Incidental Mutation 'R1668:Mc4r'
ID 187413
Institutional Source Beutler Lab
Gene Symbol Mc4r
Ensembl Gene ENSMUSG00000047259
Gene Name melanocortin 4 receptor
Synonyms Pkcp, Fatboy
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 66990776-66993558 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66992480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 211 (L211P)
Ref Sequence ENSEMBL: ENSMUSP00000054776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057942]
AlphaFold P56450
Predicted Effect probably damaging
Transcript: ENSMUST00000057942
AA Change: L211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054776
Gene: ENSMUSG00000047259
AA Change: L211P

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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
Predicted Primers PCR Primer
(F):5'- CGATGACGGCGTTACACATGATCAG -3'
(R):5'- AACATCATGACGGTTAGGCGGG -3'

Sequencing Primer
(F):5'- GCACACGCAGTATGGATTCTG -3'
(R):5'- GTCGGGATCATCATAAGTTGTATC -3'
Posted On 2014-05-09