Incidental Mutation 'R6161:Mc4r'
ID 489898
Institutional Source Beutler Lab
Gene Symbol Mc4r
Ensembl Gene ENSMUSG00000047259
Gene Name melanocortin 4 receptor
Synonyms Pkcp, Fatboy
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 66990776-66993558 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 66992251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 287 (Y287*)
Ref Sequence ENSEMBL: ENSMUSP00000054776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057942]
AlphaFold P56450
Predicted Effect probably null
Transcript: ENSMUST00000057942
AA Change: Y287*
SMART Domains Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: Y287*

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 0.9717 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAAAGTCTGCAGGTATCTACC -3'
(R):5'- ACATGTTCCTGATGGCGAGG -3'

Sequencing Primer
(F):5'- GGTATCTACCTAGTTTGCACTCTG -3'
(R):5'- GCTTCACATTAAGAGGATTGCTGTCC -3'
Posted On 2017-10-10