Casr MGI Mouse Gene Detail - MGI:1351351 - calcium-sensing receptor

Using the Quick Search Tool for more information.', STICKY, CAPTION, 'Quick Search Tips', CENTER, BELOW, WIDTH, 450, DELAY, 600, CLOSECLICK, CLOSETEXT, 'Close X');" onMouseOut="nd();">
[フレーム]
Casr Gene Detail
Summary
  • Symbol
    Casr
  • Name
    calcium-sensing receptor
  • Synonyms
    CaR, cation sensing receptor, Gprc2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351351
    NCBI Gene: 12374
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:36314058-36382503 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 16, 25.57 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1818 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351351
protein coding gene Chr16:36310947-36382605 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022789
protein coding gene Chr16:34893146-34961344 (-)
A/J MGP_AJ_G0022754
protein coding gene Chr16:33174373-33243791 (-)
AKR/J MGP_AKRJ_G0022726
protein coding gene Chr16:34425332-34503942 (-)
BALB/cJ MGP_BALBcJ_G0022755
protein coding gene Chr16:33277474-33347620 (-)
C3H/HeJ MGP_C3HHeJ_G0022519
protein coding gene Chr16:34557304-34627555 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023202
protein coding gene Chr16:35714589-35789510 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020716
protein coding gene Chr16:33534691-33607469 (-)
CAST/EiJ MGP_CASTEiJ_G0022045
protein coding gene Chr16:34669498-34743781 (-)
CBA/J MGP_CBAJ_G0022490
protein coding gene Chr16:37281393-37359345 (-)
DBA/2J MGP_DBA2J_G0022622
protein coding gene Chr16:33063218-33132593 (-)
FVB/NJ MGP_FVBNJ_G0022597
protein coding gene Chr16:33100147-33169115 (-)
LP/J MGP_LPJ_G0022690
protein coding gene Chr16:34601619-34674101 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022616
protein coding gene Chr16:36331138-36403137 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023217
protein coding gene Chr16:34388363-34464683 (-)
PWK/PhJ MGP_PWKPhJ_G0021785
protein coding gene Chr16:33456482-33529219 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021616
protein coding gene Chr16:34306362-34375933 (-)
WSB/EiJ MGP_WSBEiJ_G0022089
protein coding gene Chr16:34439652-34512819 (-)



Homology
more
  • Human Ortholog
    CASR, calcium sensing receptor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASR, calcium sensing receptor
  • Synonyms
    CAR, EIG8, FHH, FIH, GPRC2A, hCasR, HHC, HHC1, HYPOC1, NSHPT, PCAR1
  • Links
    NCBI Gene ID: 846
    UniProt: P41180

  • Chr Location
    3q13.33-q21.1; chr3:122183668-122291629 (+) GRCh38
Human Diseases
more
  • Diseases
    3 with Casr mouse models; 9 with human CASR associations

Human Disease Mouse Models
IDs
autosomal dominant hypocalcemia 1
View 2 models
Mouse Models

Human Disease Modeled: autosomal dominant hypocalcemia 1

Allelic Composition Genetic Background Reference Phenotypes
CasrNuf/CasrNuf
involves: 102/El * C3H/He J:92612 View
CasrNuf/Casr+
 either: (involves: 102/El * 102/H * C3H/He) or (involves: 102/El * C3H/He * C3H/HeH) J:92612 View
IDs
familial hypocalciuric hypercalcemia 1
View 7 models
IDs
hyperparathyroidism

DOID:13543
ICD10CM:E21.3
ICD9CM:252.0
ICD9CM:252.00
MESH:D006961
NCI:C48259
OMIM:145000
OMIM:145001
OMIM:610071
ORDO:99879
UMLS_CUI:C0020502

 View 6 models
IDs
autosomal dominant hypocalcemia
IDs
calcium oxalate nephrolithiasis
IDs
hypercalcemia

DOID:12678
ICD10CM:E83.52
ICD9CM:275.42
MESH:D006934
UMLS_CUI:C0020437
IDs
intellectual disability

DOID:1059
NCI:C84392
UMLS_CUI:C0025362
IDs
nephrolithiasis

DOID:585
EFO:0004253
ICD10CM:N20
ICD9CM:592
UMLS_CUI:C0156257
IDs
secondary hyperparathyroidism

DOID:12466
MESH:D006962
NCI:C113335
UMLS_CUI:C0020503
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 10 alleles in 15 genetic backgrounds
    1 images
    75 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit high levels of serum calcium and parathyroid hormone, parathyroid hyperplasia, bone defects, reduced growth, and early death. Carriers have elevated serum calcium, magnesium, and parathyroid hormone levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
    7
  • Literature Summary
  • Comparison Matrix
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051980 Ensembl Gene Model | MGI Sequence Detail 68446 C57BL/6J ± kb
    transcript ENSMUST00000063597 Ensembl | MGI Sequence Detail 4534 Not Applicable
    polypeptide ENSMUSP00000069080 Ensembl | MGI Sequence Detail 1079 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000005058 extracellular calcium-sensing receptor
    • InterPro Domains
      IPR000337 GPCR, family 3
      IPR017979 GPCR, family 3, conserved site
      IPR017978 GPCR family 3, C-terminal
      IPR000068 GPCR, family 3, extracellular calcium-sensing receptor-related
      IPR011500 GPCR, family 3, nine cysteines domain
      IPR038550 GPCR, family 3, nine cysteines domain superfamily
      IPR028082 Periplasmic binding protein-like I
      IPR001828 Receptor, ligand binding region
    • GlyGen
      Q9QY96 10 sites, 2 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 2
      cDNA 7
      Primer pair 8
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-28074, MGI:104782
    References
    more
    • Summaries
      All 150
      Developmental Gene Expression 15
      Diseases 3
      Gene Ontology 14
      Phenotypes 75
    • Earliest
      J:43659 Pollak MR, et al., Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31;75(7):1297-303
    • Latest
      J:373638 Adam S, et al., The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis. EBioMedicine. 2024 Sep;107:105293
    TSS for Casr:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr140999 Chr16:36382148-36382161 (-) 348 bp
    Tssr140998 Chr16:36382111-36382125 (-) 385 bp
    Tssr140997 Chr16:36381963-36381976 (-) 533 bp
    Tssr140996 Chr16:36381903-36381916 (-) 593 bp
    Tssr140995 Chr16:36352601-36352623 (-) 29,891 bp
    Tssr140994 Chr16:36352580-36352597 (-) 29,914 bp
    Tssr140993 Chr16:36352548-36352575 (-) 29,941 bp
    Tssr140992 Chr16:36352531-36352546 (-) 29,964 bp
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
    This site uses cookies. Some cookies are essential for site operations and others help us analyze use and utility of our web site. Please refer to our privacy policy for more information.
    Close Save preferences

    AltStyle によって変換されたページ (->オリジナル) /