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Mc1r Gene Detail
Summary
  • Symbol
    Mc1r
  • Name
    melanocortin 1 receptor
  • Synonyms
    e, extension recessive yellow, Mcr1, Mshra
  • Feature Type
    protein coding gene
  • IDs
    MGI:99456
    NCBI Gene: 17199
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:124133846-124137483 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.10 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    154 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_99456
 protein coding gene Chr8:124133839-124137483 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034254
 protein coding gene Chr8:127019759-127023392 (+)
A/J MGP_AJ_G0034234
 protein coding gene Chr8:121762769-121767086 (+)
AKR/J MGP_AKRJ_G0034161
 protein coding gene Chr8:125300487-125304121 (+)
BALB/cJ MGP_BALBcJ_G0034227
 protein coding gene Chr8:121963938-121969446 (+)
C3H/HeJ MGP_C3HHeJ_G0033938
 protein coding gene Chr8:126000300-126003951 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034747
 protein coding gene Chr8:131268646-131274792 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031689
 protein coding gene Chr8:114580231-114583854 (+)
CAST/EiJ MGP_CASTEiJ_G0033266
 protein coding gene Chr8:126099365-126102959 (+)
CBA/J MGP_CBAJ_G0033911
 protein coding gene Chr8:136086195-136093030 (+)
DBA/2J MGP_DBA2J_G0034067
 protein coding gene Chr8:120930086-120933651 (+)
FVB/NJ MGP_FVBNJ_G0034011
 protein coding gene Chr8:120102482-120106450 (+)
LP/J MGP_LPJ_G0034157
 protein coding gene Chr8:127165424-127168981 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034058
 protein coding gene Chr8:138216614-138221619 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034766
 protein coding gene Chr8:125505685-125509282 (+)
PWK/PhJ MGP_PWKPhJ_G0032967
 protein coding gene Chr8:120765594-120769300 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032807
 protein coding gene Chr8:124224582-124229470 (+)
WSB/EiJ MGP_WSBEiJ_G0033382
 protein coding gene Chr8:126243206-126246818 (+)



Homology
more
  • Human Ortholog
    MC1R, melanocortin 1 receptor
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MC1R, melanocortin 1 receptor
  • Synonyms
    CMM5, MSH-R, SHEP2
  • Links
    NCBI Gene ID: 4157
    neXtProt AC: NX_Q01726
    UniProt: Q01726

  • Chr Location
    16q24.3; chr16:89912119-89920973 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human MC1R associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 10 alleles in 16 genetic backgrounds
    15 phenotypes from multigenic genotypes
    1 images
    73 phenotype references
Phenotype Overview

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.
Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    9
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

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
    792
  • Tissues
    59
  • cDNA Data
    8
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074037 Ensembl Gene Model | MGI Sequence Detail 3638 C57BL/6J ±  kb
    transcript ENSMUST00000098324 Ensembl | MGI Sequence Detail 3638 Not Applicable  
    polypeptide ENSMUSP00000095929 Ensembl | MGI Sequence Detail 315 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 3
      cDNA 8
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15162, MGD-MRK-16225, MGD-MRK-16229, MGD-MRK-9266
    References
    more
    • Summaries
      All 140
      Developmental Gene Expression 6
      Gene Ontology 9
      Phenotypes 73
    • Earliest
      J:13077 Bateman N, Sombre, a viable dominant mutant in the house mouse. J Hered. 1961;52(4):186-189
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory