Incidental Mutation 'IGL01618:Mc3r'
ID 92440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01618
Quality Score
Status
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172091290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 171 (C171S)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably benign
Transcript: ENSMUST00000038532
AA Change: C171S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: C171S

DomainStartEndE-ValueType
Pfam:7tm_4 45 198 3.2e-12 PFAM
Pfam:7TM_GPCR_Srsx 49 314 1.9e-7 PFAM
Pfam:7tm_1 55 299 5.4e-35 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,261,265 (GRCm39) A74V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1a3 G A 7: 66,058,978 (GRCm39) T239I probably damaging Het
Anxa9 A G 3: 95,207,847 (GRCm39) probably null Het
Atp5me C A 5: 108,581,899 (GRCm39) K28N probably damaging Het
C9 T G 15: 6,489,149 (GRCm39) Y169D probably benign Het
Chat T A 14: 32,168,849 (GRCm39) probably null Het
Csmd3 C T 15: 47,874,479 (GRCm39) E706K probably benign Het
Ctbs A G 3: 146,160,867 (GRCm39) K145E probably benign Het
Dennd5a A G 7: 109,533,302 (GRCm39) M156T probably damaging Het
Dhx29 A G 13: 113,101,756 (GRCm39) Y1275C probably damaging Het
Dpp10 A T 1: 123,295,596 (GRCm39) F517Y probably benign Het
Dst G A 1: 34,227,990 (GRCm39) W1536* probably null Het
Galc T C 12: 98,218,340 (GRCm39) T171A possibly damaging Het
Gsap T C 5: 21,431,246 (GRCm39) I190T probably damaging Het
Hars2 A T 18: 36,922,630 (GRCm39) R388* probably null Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Jhy G T 9: 40,872,260 (GRCm39) T83K possibly damaging Het
Kcne4 A T 1: 78,795,525 (GRCm39) M58L possibly damaging Het
Lamc3 T A 2: 31,802,119 (GRCm39) I509N probably damaging Het
Lpar6 T C 14: 73,476,506 (GRCm39) S156P probably damaging Het
Man2c1 T C 9: 57,048,840 (GRCm39) probably benign Het
Marchf11 T C 15: 26,409,285 (GRCm39) I328T possibly damaging Het
Muc4 A T 16: 32,577,001 (GRCm39) Q2167L unknown Het
Myom1 T C 17: 71,406,988 (GRCm39) V1135A possibly damaging Het
Nectin1 C T 9: 43,702,555 (GRCm39) R101* probably null Het
Nxpe4 T C 9: 48,305,440 (GRCm39) S277P possibly damaging Het
Or1e35 T C 11: 73,798,303 (GRCm39) N5S probably damaging Het
Or2a52 T A 6: 43,144,637 (GRCm39) V215E probably damaging Het
Or52r1c G A 7: 102,735,582 (GRCm39) V281I probably benign Het
Or5b106 T A 19: 13,123,614 (GRCm39) K136N probably benign Het
Or5w19 A C 2: 87,698,488 (GRCm39) D51A probably damaging Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Prepl A G 17: 85,373,709 (GRCm39) V586A probably damaging Het
Prrc2a T C 17: 35,368,529 (GRCm39) Y2098C probably damaging Het
Rdh16 G A 10: 127,637,176 (GRCm39) C37Y probably damaging Het
Rnd1 A T 15: 98,571,746 (GRCm39) M100K probably benign Het
Sema3c A G 5: 17,877,504 (GRCm39) N204D probably damaging Het
Susd4 A G 1: 182,686,026 (GRCm39) probably null Het
Taar7f G T 10: 23,926,239 (GRCm39) A278S possibly damaging Het
Tle4 T A 19: 14,522,178 (GRCm39) M122L probably benign Het
Trim9 C T 12: 70,295,125 (GRCm39) V662I probably benign Het
Vmn2r10 C A 5: 109,150,345 (GRCm39) C233F probably damaging Het
Vmn2r98 A C 17: 19,285,521 (GRCm39) T114P possibly damaging Het
Zfyve21 C T 12: 111,794,247 (GRCm39) probably benign Het
Zng1 T C 19: 24,918,140 (GRCm39) E210G possibly damaging Het
Other mutations in Mc3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Mc3r APN 2 172,090,948 (GRCm39) missense possibly damaging 0.95
IGL01784:Mc3r APN 2 172,091,290 (GRCm39) missense probably benign
IGL01865:Mc3r APN 2 172,090,975 (GRCm39) missense probably damaging 1.00
IGL02164:Mc3r APN 2 172,091,314 (GRCm39) missense probably damaging 1.00
IGL03011:Mc3r APN 2 172,091,716 (GRCm39) missense probably benign 0.08
IGL03266:Mc3r APN 2 172,091,189 (GRCm39) missense probably benign 0.01
R0882:Mc3r UTSW 2 172,091,711 (GRCm39) missense probably benign 0.00
R1005:Mc3r UTSW 2 172,091,483 (GRCm39) missense probably benign 0.00
R1501:Mc3r UTSW 2 172,091,300 (GRCm39) missense probably benign 0.19
R2374:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R3437:Mc3r UTSW 2 172,091,588 (GRCm39) missense probably benign 0.23
R3813:Mc3r UTSW 2 172,090,799 (GRCm39) missense probably benign 0.06
R3936:Mc3r UTSW 2 172,091,216 (GRCm39) missense probably damaging 1.00
R4225:Mc3r UTSW 2 172,090,954 (GRCm39) missense probably damaging 1.00
R4491:Mc3r UTSW 2 172,091,123 (GRCm39) missense possibly damaging 0.50
R5074:Mc3r UTSW 2 172,091,533 (GRCm39) missense possibly damaging 0.95
R5277:Mc3r UTSW 2 172,091,707 (GRCm39) missense probably damaging 1.00
R5706:Mc3r UTSW 2 172,091,610 (GRCm39) nonsense probably null
R5832:Mc3r UTSW 2 172,091,350 (GRCm39) missense probably benign 0.01
R5865:Mc3r UTSW 2 172,091,592 (GRCm39) missense possibly damaging 0.84
R5881:Mc3r UTSW 2 172,091,092 (GRCm39) missense probably benign 0.22
R5905:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6028:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6492:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R7037:Mc3r UTSW 2 172,091,554 (GRCm39) missense probably damaging 1.00
R8445:Mc3r UTSW 2 172,091,237 (GRCm39) missense probably damaging 1.00
R8931:Mc3r UTSW 2 172,091,515 (GRCm39) missense possibly damaging 0.84
R9648:Mc3r UTSW 2 172,091,639 (GRCm39) missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172,091,736 (GRCm39) missense probably benign
Posted On 2013-12-09