Incidental Mutation 'R3936:Mc3r'
ID 307163
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R3936 (G1)
Quality Score 208
Status Not validated
Chromosome 2
Chromosomal Location 172248492-172251114 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172249296 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 146 (I146N)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably damaging
Transcript: ENSMUST00000038532
AA Change: I146N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: I146N

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 C T 12: 53,140,444 (GRCm38) T1547M possibly damaging Het
Alk T A 17: 72,205,954 (GRCm38) I337F probably damaging Het
Ank3 A T 10: 69,879,989 (GRCm38) K491* probably null Het
Arx T A X: 93,297,369 (GRCm38) L554Q probably damaging Het
Axdnd1 T C 1: 156,331,639 (GRCm38) N203S probably benign Het
Baz2b A G 2: 59,912,761 (GRCm38) V1622A possibly damaging Het
Btnl6 T A 17: 34,517,342 (GRCm38) H4L probably benign Het
Dync2h1 C A 9: 7,001,482 (GRCm38) L3835F probably damaging Het
Fcgbp T C 7: 28,075,399 (GRCm38) F133L probably benign Het
Fnip1 A G 11: 54,480,239 (GRCm38) probably null Het
G6pc A G 11: 101,374,603 (GRCm38) I154V probably benign Het
Golgb1 G T 16: 36,914,056 (GRCm38) E1222* probably null Het
Gpr85 A G 6: 13,836,045 (GRCm38) F287L probably benign Het
Gzmk A T 13: 113,173,025 (GRCm38) S164T probably damaging Het
Il22ra2 T A 10: 19,631,708 (GRCm38) S156R probably benign Het
Kansl1 A T 11: 104,343,543 (GRCm38) D712E possibly damaging Het
Mcm2 G A 6: 88,893,008 (GRCm38) R60C probably damaging Het
Mitf C T 6: 97,993,253 (GRCm38) P54S probably damaging Het
Olfr156 T A 4: 43,821,359 (GRCm38) M1L probably benign Het
P4hb A C 11: 120,562,409 (GRCm38) H440Q probably benign Het
Pbsn T C X: 77,848,096 (GRCm38) T32A probably damaging Het
Rptn A C 3: 93,395,576 (GRCm38) H72P possibly damaging Het
Scn1a T C 2: 66,327,776 (GRCm38) I418V probably damaging Het
Sf3a1 T A 11: 4,180,024 (GRCm38) probably null Het
Slc35f1 C T 10: 53,108,218 (GRCm38) T358I probably damaging Het
Slc9c1 A G 16: 45,606,830 (GRCm38) probably benign Het
Sorcs3 T A 19: 48,713,504 (GRCm38) V608D probably damaging Het
Sult2b1 C T 7: 45,742,216 (GRCm38) V49M probably benign Het
Tlr11 A G 14: 50,362,735 (GRCm38) E726G possibly damaging Het
Treh C T 9: 44,684,543 (GRCm38) R342W probably benign Het
Other mutations in Mc3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Mc3r APN 2 172,249,028 (GRCm38) missense possibly damaging 0.95
IGL01618:Mc3r APN 2 172,249,370 (GRCm38) missense probably benign
IGL01784:Mc3r APN 2 172,249,370 (GRCm38) missense probably benign
IGL01865:Mc3r APN 2 172,249,055 (GRCm38) missense probably damaging 1.00
IGL02164:Mc3r APN 2 172,249,394 (GRCm38) missense probably damaging 1.00
IGL03011:Mc3r APN 2 172,249,796 (GRCm38) missense probably benign 0.08
IGL03266:Mc3r APN 2 172,249,269 (GRCm38) missense probably benign 0.01
R0882:Mc3r UTSW 2 172,249,791 (GRCm38) missense probably benign 0.00
R1005:Mc3r UTSW 2 172,249,563 (GRCm38) missense probably benign 0.00
R1501:Mc3r UTSW 2 172,249,380 (GRCm38) missense probably benign 0.19
R2374:Mc3r UTSW 2 172,249,154 (GRCm38) missense possibly damaging 0.84
R3437:Mc3r UTSW 2 172,249,668 (GRCm38) missense probably benign 0.23
R3813:Mc3r UTSW 2 172,248,879 (GRCm38) missense probably benign 0.06
R4225:Mc3r UTSW 2 172,249,034 (GRCm38) missense probably damaging 1.00
R4491:Mc3r UTSW 2 172,249,203 (GRCm38) missense possibly damaging 0.50
R5074:Mc3r UTSW 2 172,249,613 (GRCm38) missense possibly damaging 0.95
R5277:Mc3r UTSW 2 172,249,787 (GRCm38) missense probably damaging 1.00
R5706:Mc3r UTSW 2 172,249,690 (GRCm38) nonsense probably null
R5832:Mc3r UTSW 2 172,249,430 (GRCm38) missense probably benign 0.01
R5865:Mc3r UTSW 2 172,249,672 (GRCm38) missense possibly damaging 0.84
R5881:Mc3r UTSW 2 172,249,172 (GRCm38) missense probably benign 0.22
R5905:Mc3r UTSW 2 172,249,209 (GRCm38) missense probably damaging 1.00
R6028:Mc3r UTSW 2 172,249,209 (GRCm38) missense probably damaging 1.00
R6492:Mc3r UTSW 2 172,249,154 (GRCm38) missense possibly damaging 0.84
R7037:Mc3r UTSW 2 172,249,634 (GRCm38) missense probably damaging 1.00
R8445:Mc3r UTSW 2 172,249,317 (GRCm38) missense probably damaging 1.00
R8931:Mc3r UTSW 2 172,249,595 (GRCm38) missense possibly damaging 0.84
R9648:Mc3r UTSW 2 172,249,719 (GRCm38) missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172,249,816 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17