Incidental Mutation 'IGL01382:Mc4r'
ID 78893
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 # IGL01382
Quality Score
Status
Chromosome 18
Chromosomal Location 66990776-66993558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66992864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 83 (I83T)
Ref Sequence ENSEMBL: ENSMUSP00000054776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057942]
AlphaFold P56450
Predicted Effect probably damaging
Transcript: ENSMUST00000057942
AA Change: I83T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: I83T

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,458,006 (GRCm39) R393L probably benign Het
Arhgap21 G T 2: 20,860,511 (GRCm39) P1128T probably damaging Het
Atp12a T G 14: 56,617,412 (GRCm39) C567W probably damaging Het
Bcat2 C A 7: 45,237,684 (GRCm39) R312S probably damaging Het
Cacna1g T A 11: 94,356,684 (GRCm39) T151S probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Dis3l2 A G 1: 86,784,925 (GRCm39) D272G probably benign Het
Entrep3 T C 3: 89,095,733 (GRCm39) S596P probably damaging Het
Ephx4 A G 5: 107,577,585 (GRCm39) E303G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Gm9843 A T 16: 76,200,460 (GRCm39) noncoding transcript Het
Gnb1l T C 16: 18,362,950 (GRCm39) F11S probably damaging Het
Ipmk C T 10: 71,212,596 (GRCm39) T186M probably damaging Het
Jph1 T C 1: 17,086,380 (GRCm39) T381A probably damaging Het
Kbtbd8 T A 6: 95,099,211 (GRCm39) I163K probably damaging Het
Kif18a T A 2: 109,127,111 (GRCm39) Y348* probably null Het
Lrrc37a T A 11: 103,389,581 (GRCm39) D1948V probably damaging Het
Myh8 A T 11: 67,192,799 (GRCm39) E1530V probably damaging Het
Naip6 C T 13: 100,436,364 (GRCm39) E720K possibly damaging Het
Ncor2 T A 5: 125,132,837 (GRCm39) Q50L probably damaging Het
Or5p70 G A 7: 107,994,452 (GRCm39) V42M probably benign Het
Or9s15 A G 1: 92,524,922 (GRCm39) Y227C possibly damaging Het
Plxnd1 A T 6: 115,937,488 (GRCm39) M1575K probably damaging Het
Ptprg T G 14: 12,237,797 (GRCm38) M643R probably benign Het
Reck T A 4: 43,940,662 (GRCm39) C824S probably damaging Het
Rpgrip1 C T 14: 52,382,934 (GRCm39) T689I possibly damaging Het
Ruvbl2 A T 7: 45,072,161 (GRCm39) S358T probably benign Het
Sec14l3 G T 11: 4,018,104 (GRCm39) C128F probably damaging Het
Serpinf2 C T 11: 75,328,863 (GRCm39) probably benign Het
Sez6l C T 5: 112,573,487 (GRCm39) V842I probably benign Het
Tm6sf2 A G 8: 70,531,018 (GRCm39) Y257C probably damaging Het
Tmpo T C 10: 91,001,912 (GRCm39) D99G probably damaging Het
Tulp3 A C 6: 128,302,033 (GRCm39) N329K probably damaging Het
Vmn1r7 T A 6: 57,001,708 (GRCm39) D184V probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vmn2r93 T A 17: 18,533,578 (GRCm39) L494* probably null Het
Wdr18 T C 10: 79,801,106 (GRCm39) L173P probably damaging Het
Zfp663 T A 2: 165,200,935 (GRCm39) Y33F probably damaging Het
Zmiz2 T A 11: 6,353,781 (GRCm39) probably null Het
Other mutations in Mc4r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Mc4r APN 18 66,992,229 (GRCm39) missense probably benign 0.01
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
IGL03403:Mc4r APN 18 66,992,597 (GRCm39) missense possibly damaging 0.61
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 2013-11-05