Incidental Mutation 'IGL03403:Mc4r'
ID 421492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc4r
Ensembl Gene ENSMUSG00000047259
Gene Name melanocortin 4 receptor
Synonyms Pkcp, Fatboy
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03403
Quality Score
Status
Chromosome 18
Chromosomal Location 66990776-66993558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66992597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 172 (C172Y)
Ref Sequence ENSEMBL: ENSMUSP00000054776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057942]
AlphaFold P56450
Predicted Effect possibly damaging
Transcript: ENSMUST00000057942
AA Change: C172Y

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: C172Y

DomainStartEndE-ValueType
Pfam:7tm_4 51 228 8.1e-11 PFAM
Pfam:7TM_GPCR_Srsx 55 317 6e-12 PFAM
Pfam:7tm_1 61 302 2.7e-31 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. Disruption of this gene promotes hyperphagia and obesity, and is associated with increased cholesterol levels and insulin resistance. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mutations in this gene result in hyperglycemia and weight gain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in Mc4r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Mc4r APN 18 66,992,229 (GRCm39) missense probably benign 0.01
IGL01382:Mc4r APN 18 66,992,864 (GRCm39) missense probably damaging 0.96
IGL01820:Mc4r APN 18 66,992,226 (GRCm39) missense probably benign 0.00
IGL02749:Mc4r APN 18 66,992,733 (GRCm39) missense probably damaging 1.00
IGL02812:Mc4r APN 18 66,992,318 (GRCm39) missense probably damaging 1.00
Big_boned UTSW 18 66,992,559 (GRCm39) missense probably damaging 1.00
Big_mac UTSW 18 66,992,927 (GRCm39) missense probably damaging 1.00
blubbery UTSW 18 66,992,253 (GRCm39) missense probably damaging 1.00
Cetacean UTSW 18 66,992,251 (GRCm39) nonsense probably null
chubby UTSW 18 66,992,918 (GRCm39) missense probably damaging 1.00
halloween UTSW 18 66,992,892 (GRCm39) missense probably damaging 1.00
Leviathan UTSW 18 66,993,110 (GRCm39) start codon destroyed probably null 0.49
southbeach UTSW 18 66,992,213 (GRCm39) missense probably damaging 1.00
R1552:Mc4r UTSW 18 66,992,766 (GRCm39) missense probably benign 0.00
R1623:Mc4r UTSW 18 66,993,068 (GRCm39) missense probably benign 0.03
R1666:Mc4r UTSW 18 66,992,480 (GRCm39) missense probably damaging 1.00
R1668:Mc4r UTSW 18 66,992,480 (GRCm39) missense probably damaging 1.00
R1781:Mc4r UTSW 18 66,992,918 (GRCm39) missense probably damaging 1.00
R1873:Mc4r UTSW 18 66,992,531 (GRCm39) missense probably damaging 1.00
R2105:Mc4r UTSW 18 66,992,669 (GRCm39) missense probably damaging 1.00
R2210:Mc4r UTSW 18 66,992,466 (GRCm39) missense probably damaging 1.00
R3714:Mc4r UTSW 18 66,992,892 (GRCm39) missense probably damaging 1.00
R3715:Mc4r UTSW 18 66,992,892 (GRCm39) missense probably damaging 1.00
R4115:Mc4r UTSW 18 66,993,050 (GRCm39) missense probably benign
R4322:Mc4r UTSW 18 66,992,121 (GRCm39) missense probably benign 0.00
R4492:Mc4r UTSW 18 66,992,711 (GRCm39) missense probably benign 0.00
R4806:Mc4r UTSW 18 66,992,559 (GRCm39) missense probably damaging 1.00
R4877:Mc4r UTSW 18 66,992,409 (GRCm39) missense probably benign 0.00
R6161:Mc4r UTSW 18 66,992,251 (GRCm39) nonsense probably null
R6802:Mc4r UTSW 18 66,992,488 (GRCm39) missense probably benign 0.21
R6807:Mc4r UTSW 18 66,992,927 (GRCm39) missense probably damaging 1.00
R6929:Mc4r UTSW 18 66,992,253 (GRCm39) missense probably damaging 1.00
R7623:Mc4r UTSW 18 66,992,580 (GRCm39) missense probably benign 0.32
R8292:Mc4r UTSW 18 66,993,082 (GRCm39) nonsense probably null
R8560:Mc4r UTSW 18 66,992,166 (GRCm39) missense possibly damaging 0.60
R8897:Mc4r UTSW 18 66,992,304 (GRCm39) missense probably damaging 0.99
R8943:Mc4r UTSW 18 66,993,110 (GRCm39) start codon destroyed probably null 0.49
Posted On 2016-08-02