Incidental Mutation 'R5881:Mc3r'
ID 454403
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 044085-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5881 (G1)
Quality Score 173
Status Not validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172091092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 105 (S105P)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably benign
Transcript: ENSMUST00000038532
AA Change: S105P

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: S105P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.3%
  • 10x: 94.5%
  • 20x: 78.4%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A C 11: 95,725,213 (GRCm39) L159W probably damaging Het
Abi3 A T 11: 95,725,214 (GRCm39) L159M probably damaging Het
Adam11 A C 11: 102,664,636 (GRCm39) I406L probably benign Het
Ager G T 17: 34,819,051 (GRCm39) V300L probably damaging Het
Ank3 C T 10: 69,822,660 (GRCm39) S1726L probably benign Het
Boc A G 16: 44,311,014 (GRCm39) I740T probably damaging Het
C8a T A 4: 104,711,129 (GRCm39) D178V probably damaging Het
Ces3a G A 8: 105,777,198 (GRCm39) V174M probably damaging Het
Cisd1 A T 10: 71,172,244 (GRCm39) W13R probably damaging Het
Commd8 A T 5: 72,320,107 (GRCm39) D111E probably benign Het
Ddx60 A T 8: 62,490,104 (GRCm39) D1691V probably damaging Het
Desi2 A G 1: 178,065,479 (GRCm39) Y15C probably damaging Het
Dnmt1 A G 9: 20,864,013 (GRCm39) V24A probably damaging Het
Dock10 G A 1: 80,538,640 (GRCm39) T968M probably benign Het
Dsel A T 1: 111,787,168 (GRCm39) F1122L probably damaging Het
Eml3 T C 19: 8,910,807 (GRCm39) F220L probably damaging Het
Entpd2 A C 2: 25,290,824 (GRCm39) N443H probably damaging Het
Epgn A G 5: 91,176,222 (GRCm39) N36S probably benign Het
Fsip2 G T 2: 82,814,785 (GRCm39) S3506I possibly damaging Het
Gprin3 T C 6: 59,331,771 (GRCm39) S179G probably benign Het
Grifin G T 5: 140,549,342 (GRCm39) H125N possibly damaging Het
H1f9 A G 11: 94,858,989 (GRCm39) T95A possibly damaging Het
Hmcn1 A G 1: 150,506,078 (GRCm39) V3816A probably damaging Het
Hspa14 A G 2: 3,499,207 (GRCm39) F196L probably benign Het
Ice1 T C 13: 70,754,620 (GRCm39) K489E probably benign Het
Jmjd6 C T 11: 116,730,682 (GRCm39) W117* probably null Het
Lrit2 G T 14: 36,794,192 (GRCm39) A419S probably benign Het
Mccc1 A G 3: 36,018,531 (GRCm39) V601A probably benign Het
Myo1f A G 17: 33,795,627 (GRCm39) D91G probably damaging Het
Myo1f G A 17: 33,799,259 (GRCm39) E255K possibly damaging Het
Necap1 T A 6: 122,858,503 (GRCm39) D115E probably benign Het
Or4b12 A T 2: 90,096,786 (GRCm39) probably null Het
Or4k15b G A 14: 50,272,444 (GRCm39) R139C probably benign Het
Or51b6 T A 7: 103,555,883 (GRCm39) M79K probably damaging Het
Papln A G 12: 83,818,652 (GRCm39) E78G probably null Het
Phldb3 T C 7: 24,326,147 (GRCm39) probably null Het
Pkd1l2 A G 8: 117,724,321 (GRCm39) I2394T probably damaging Het
Ppa2 A T 3: 133,036,200 (GRCm39) N118I probably damaging Het
Ppef2 A T 5: 92,398,388 (GRCm39) C43* probably null Het
Pramel51 A G 12: 88,143,111 (GRCm39) L169P probably damaging Het
Rab27a G A 9: 72,992,321 (GRCm39) probably null Het
Rabgap1l A T 1: 160,169,683 (GRCm39) F47I probably damaging Het
Rala A G 13: 18,067,746 (GRCm39) I95T probably damaging Het
Rgl2 A G 17: 34,151,691 (GRCm39) D245G probably benign Het
Rnf34 A T 5: 123,002,146 (GRCm39) T35S probably damaging Het
Ros1 C T 10: 52,057,894 (GRCm39) R51Q probably benign Het
Samd9l T C 6: 3,372,716 (GRCm39) D1515G possibly damaging Het
Scn7a T C 2: 66,505,870 (GRCm39) E1673G probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Tdrd5 A T 1: 156,122,070 (GRCm39) S280T probably damaging Het
Tent2 A T 13: 93,312,246 (GRCm39) C180* probably null Het
Tie1 T C 4: 118,332,800 (GRCm39) I911V possibly damaging Het
Vipas39 G A 12: 87,298,581 (GRCm39) R194* probably null Het
Ybx3 A C 6: 131,345,451 (GRCm39) N307K possibly damaging Het
Ylpm1 A T 12: 85,088,899 (GRCm39) H1216L probably 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
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
R7037:Mc3r UTSW 2 172,091,554 (GRCm39) missense probably damaging 1.00
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'- TCTGTGAGCAGGTCTTCATCAAG -3'
(R):5'- ATGACCCCGATCAAGGTGAG -3'

Sequencing Primer
(F):5'- AGGTCTTCATCAAGCCGGAG -3'
(R):5'- CCGATCAAGGTGAGGGCTTTC -3'
Posted On 2017-02-10