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)
|
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
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |