Incidental Mutation 'IGL03323:Mc5r'
| ID |
416546 |
| 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)
|
| Stock # |
IGL03323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
68470575-68475517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 68472286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 215
(T215I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172148]
|
| AlphaFold |
P41149 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172148
AA Change: T215I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: T215I
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
| Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
| Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
| Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
| Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
| Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
| Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
| Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
| Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
| Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
| Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
| Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
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 |
|
IGL02489:Mc5r
|
APN |
18 |
68,472,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2016-08-02 |
Incidental Mutation