Incidental Mutation 'R4297:Mc5r'
ID |
323401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mc5r
|
Ensembl Gene |
ENSMUSG00000007480 |
Gene Name |
melanocortin 5 receptor |
Synonyms |
|
MMRRC Submission |
041085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R4297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
68470575-68475517 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68472378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 246
(F246L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172148]
|
AlphaFold |
P41149 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172148
AA Change: F246L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000130497 Gene: ENSMUSG00000007480 AA Change: F246L
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 |
|
Meta Mutation Damage Score |
0.0791 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
85% (33/39) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
Gsto2 |
A |
C |
19: 47,864,935 (GRCm39) |
E156A |
possibly damaging |
Het |
Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCGGTGGACAGGTACATC -3'
(R):5'- AGTAGACGTTCTGAGGGCAG -3'
Sequencing Primer
(F):5'- GTACATCACCATCTTCTATGCCTTG -3'
(R):5'- CGTTCTGAGGGCAGGAGATC -3'
|
Posted On |
2015-06-20 |