Incidental Mutation 'R7037:Mc3r'
ID 546751
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172091554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably damaging
Transcript: ENSMUST00000038532
AA Change: F259L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: F259L

DomainStartEndE-ValueType
Pfam:7tm_4 45 198 3.2e-12 PFAM
Pfam:7TM_GPCR_Srsx 49 314 1.9e-7 PFAM
Pfam:7tm_1 55 299 5.4e-35 PFAM
Meta Mutation Damage Score 0.3271 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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 and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly damaging Het
Other mutations in Mc3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Mc3r APN 2 172,090,948 (GRCm39) missense possibly damaging 0.95
IGL01618:Mc3r APN 2 172,091,290 (GRCm39) missense probably benign
IGL01784:Mc3r APN 2 172,091,290 (GRCm39) missense probably benign
IGL01865:Mc3r APN 2 172,090,975 (GRCm39) missense probably damaging 1.00
IGL02164:Mc3r APN 2 172,091,314 (GRCm39) missense probably damaging 1.00
IGL03011:Mc3r APN 2 172,091,716 (GRCm39) missense probably benign 0.08
IGL03266:Mc3r APN 2 172,091,189 (GRCm39) missense probably benign 0.01
R0882:Mc3r UTSW 2 172,091,711 (GRCm39) missense probably benign 0.00
R1005:Mc3r UTSW 2 172,091,483 (GRCm39) missense probably benign 0.00
R1501:Mc3r UTSW 2 172,091,300 (GRCm39) missense probably benign 0.19
R2374:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R3437:Mc3r UTSW 2 172,091,588 (GRCm39) missense probably benign 0.23
R3813:Mc3r UTSW 2 172,090,799 (GRCm39) missense probably benign 0.06
R3936:Mc3r UTSW 2 172,091,216 (GRCm39) missense probably damaging 1.00
R4225:Mc3r UTSW 2 172,090,954 (GRCm39) missense probably damaging 1.00
R4491:Mc3r UTSW 2 172,091,123 (GRCm39) missense possibly damaging 0.50
R5074:Mc3r UTSW 2 172,091,533 (GRCm39) missense possibly damaging 0.95
R5277:Mc3r UTSW 2 172,091,707 (GRCm39) missense probably damaging 1.00
R5706:Mc3r UTSW 2 172,091,610 (GRCm39) nonsense probably null
R5832:Mc3r UTSW 2 172,091,350 (GRCm39) missense probably benign 0.01
R5865:Mc3r UTSW 2 172,091,592 (GRCm39) missense possibly damaging 0.84
R5881:Mc3r UTSW 2 172,091,092 (GRCm39) missense probably benign 0.22
R5905:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6028:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6492:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R8445:Mc3r UTSW 2 172,091,237 (GRCm39) missense probably damaging 1.00
R8931:Mc3r UTSW 2 172,091,515 (GRCm39) missense possibly damaging 0.84
R9648:Mc3r UTSW 2 172,091,639 (GRCm39) missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172,091,736 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCACCATGTTCTTCGCCATGG -3'
(R):5'- CATCCTAGCCCAAGTTCATGC -3'

Sequencing Primer
(F):5'- ATGGTGCTCCTCATGGGC -3'
(R):5'- AGCCCAAGTTCATGCTGTTG -3'
Posted On 2019-05-13