Incidental Mutation 'R8943:Mc4r'
ID 681125
Institutional Source Beutler Lab
Gene Symbol Mc4r
Ensembl Gene ENSMUSG00000047259
Gene Name melanocortin 4 receptor
Synonyms Pkcp, Fatboy
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 66990776-66993558 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to C at 66993110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000054776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057942]
AlphaFold P56450
Predicted Effect probably null
Transcript: ENSMUST00000057942
AA Change: M1R

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: M1R

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCGCCACGATCACTAGAATG -3'
(R):5'- ATGATCTGAGCCGAACCCAG -3'

Sequencing Primer
(F):5'- GAATGTTCTCCAACAGGCTTATGAC -3'
(R):5'- TCTGAGCCGAACCCAGAAGAG -3'
Posted On 2021-08-31