Incidental Mutation 'IGL02489:Mc5r'
| ID |
295538 |
| 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: 0.121)
|
| Stock # |
IGL02489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
68470575-68475517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68472597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 319
(C319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172148]
|
| AlphaFold |
P41149 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172148
AA Change: C319S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: C319S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,780,847 (GRCm39) |
|
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,480,746 (GRCm39) |
T430A |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,810,298 (GRCm39) |
D426G |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,639,540 (GRCm39) |
S280P |
possibly damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,535 (GRCm39) |
L416P |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,803,594 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,431,971 (GRCm39) |
|
probably null |
Het |
| Ctsa |
A |
G |
2: 164,680,565 (GRCm39) |
Y402C |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,481 (GRCm39) |
V223A |
possibly damaging |
Het |
| Dnajb3 |
G |
T |
1: 88,133,032 (GRCm39) |
N123K |
probably benign |
Het |
| Fhad1 |
G |
T |
4: 141,684,931 (GRCm39) |
N469K |
probably damaging |
Het |
| Fmo3 |
G |
T |
1: 162,781,856 (GRCm39) |
T499K |
possibly damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,645 (GRCm39) |
C109Y |
probably benign |
Het |
| Lrrc27 |
G |
T |
7: 138,805,977 (GRCm39) |
R214L |
probably benign |
Het |
| Nwd2 |
A |
C |
5: 63,962,570 (GRCm39) |
Y718S |
probably damaging |
Het |
| Or8h7 |
T |
G |
2: 86,721,339 (GRCm39) |
Y60S |
probably damaging |
Het |
| Ppa1 |
T |
A |
10: 61,501,223 (GRCm39) |
D163E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,259,468 (GRCm39) |
G303W |
probably damaging |
Het |
| Rnf182 |
T |
C |
13: 43,821,779 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,045,074 (GRCm39) |
F659S |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,593 (GRCm39) |
Y217N |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,596,778 (GRCm39) |
E1008* |
probably null |
Het |
| Unc80 |
T |
C |
1: 66,564,860 (GRCm39) |
M849T |
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,878,071 (GRCm39) |
I442N |
probably benign |
Het |
|
| Other mutations in Mc5r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Mc5r
|
APN |
18 |
68,472,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation