Incidental Mutation 'IGL01483:Mc5r'
ID 88673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc5r
Ensembl Gene ENSMUSG00000007480
Gene Name melanocortin 5 receptor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL01483
Quality Score
Status
Chromosome 18
Chromosomal Location 68470575-68475517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68472315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000130497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172148]
AlphaFold P41149
Predicted Effect probably damaging
Transcript: ENSMUST00000172148
AA Change: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: I225V

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
Pfam:7tm_4 90 314 1.6e-10 PFAM
Pfam:7TM_GPCR_Srsx 94 357 9.8e-10 PFAM
Pfam:7tm_1 100 342 6.2e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in a severe defect in water repulsion and thermoregulation due to decreased production of sebaceous lipids. Males exhibit less aggressive and more defensive behavior when placed with wildtype males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,351,201 (GRCm39) noncoding transcript Het
Abcb4 T C 5: 8,977,871 (GRCm39) I483T probably damaging Het
Ank3 A T 10: 69,710,639 (GRCm39) H388L probably damaging Het
Arhgap24 T C 5: 103,008,243 (GRCm39) Y52H possibly damaging Het
Atf7ip A G 6: 136,564,457 (GRCm39) N900S probably damaging Het
Bmp10 A T 6: 87,410,933 (GRCm39) D242V probably damaging Het
Ceacam12 A G 7: 17,801,446 (GRCm39) R142G probably benign Het
Cilp2 T A 8: 70,335,496 (GRCm39) I501F probably damaging Het
Cplane1 T G 15: 8,216,591 (GRCm39) I603S probably damaging Het
Dglucy T C 12: 100,819,476 (GRCm39) V426A probably damaging Het
Dyrk1b A G 7: 27,882,101 (GRCm39) D94G probably damaging Het
Efcab3 T C 11: 104,630,173 (GRCm39) V968A probably benign Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Fbxo7 T C 10: 85,880,445 (GRCm39) Y298H probably damaging Het
Gcg T C 2: 62,310,827 (GRCm39) D25G possibly damaging Het
Helb A G 10: 119,947,043 (GRCm39) V90A probably damaging Het
Krt40 T A 11: 99,433,553 (GRCm39) E144D probably damaging Het
Lpo G A 11: 87,711,964 (GRCm39) T31I probably benign Het
Mccc1 A G 3: 36,044,009 (GRCm39) F245L probably damaging Het
Mindy4 A G 6: 55,193,670 (GRCm39) D121G probably damaging Het
Nap1l4 A T 7: 143,081,053 (GRCm39) probably null Het
Noc4l T A 5: 110,796,824 (GRCm39) K486M probably damaging Het
Notum T C 11: 120,547,482 (GRCm39) D271G probably damaging Het
Pan3 T A 5: 147,466,783 (GRCm39) L550Q probably benign Het
Pde4dip A G 3: 97,661,465 (GRCm39) S594P probably damaging Het
Pramel12 A T 4: 143,144,047 (GRCm39) E131V probably damaging Het
Prr23a1 T G 9: 98,725,369 (GRCm39) S244A probably benign Het
Rarb T C 14: 16,432,273 (GRCm38) probably benign Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Slco6c1 T C 1: 97,055,832 (GRCm39) N23S probably benign Het
Smarcc1 G T 9: 110,051,128 (GRCm39) G983* probably null Het
Tbc1d22a A T 15: 86,275,404 (GRCm39) Q442L probably benign Het
Tuba1b A G 15: 98,830,338 (GRCm39) Y161H possibly damaging Het
Zdhhc14 G A 17: 5,762,733 (GRCm39) M212I probably benign Het
Other mutations in Mc5r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02396:Mc5r APN 18 68,472,537 (GRCm39) missense possibly damaging 0.88
IGL02474:Mc5r APN 18 68,471,910 (GRCm39) missense probably damaging 1.00
IGL02489:Mc5r APN 18 68,472,597 (GRCm39) missense probably damaging 0.99
IGL03323:Mc5r APN 18 68,472,286 (GRCm39) missense probably benign 0.00
R0022:Mc5r UTSW 18 68,471,853 (GRCm39) missense probably benign
R0022:Mc5r UTSW 18 68,471,853 (GRCm39) missense probably benign
R0067:Mc5r UTSW 18 68,472,637 (GRCm39) missense probably damaging 1.00
R0067:Mc5r UTSW 18 68,472,637 (GRCm39) missense probably damaging 1.00
R0883:Mc5r UTSW 18 68,472,163 (GRCm39) missense probably damaging 1.00
R1179:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R1789:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R1866:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R2291:Mc5r UTSW 18 68,472,435 (GRCm39) missense probably damaging 1.00
R4297:Mc5r UTSW 18 68,472,378 (GRCm39) missense probably benign 0.00
R4960:Mc5r UTSW 18 68,471,890 (GRCm39) missense possibly damaging 0.50
R5062:Mc5r UTSW 18 68,472,352 (GRCm39) missense probably damaging 1.00
R5521:Mc5r UTSW 18 68,472,748 (GRCm39) missense possibly damaging 0.73
R5853:Mc5r UTSW 18 68,472,564 (GRCm39) missense probably benign 0.25
R6007:Mc5r UTSW 18 68,472,318 (GRCm39) missense possibly damaging 0.93
R7326:Mc5r UTSW 18 68,472,739 (GRCm39) missense probably damaging 1.00
R9160:Mc5r UTSW 18 68,472,205 (GRCm39) missense probably damaging 1.00
R9287:Mc5r UTSW 18 68,472,200 (GRCm39) missense probably damaging 1.00
R9471:Mc5r UTSW 18 68,472,127 (GRCm39) missense probably damaging 1.00
R9511:Mc5r UTSW 18 68,472,565 (GRCm39) missense possibly damaging 0.65
Posted On 2013-11-18