Incidental Mutation 'IGL00309:Gpr6'
| ID |
6113 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr6
|
| Ensembl Gene |
ENSMUSG00000046922 |
| Gene Name |
G protein-coupled receptor 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40945973-40948281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40946812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 257
(A257T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061796]
|
| AlphaFold |
Q6YNI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061796
AA Change: A257T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057323
Gene: ENSMUSG00000046922
AA Change: A257T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
90 |
330 |
2.5e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213704
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [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 |
|---|
| 4933430I17Rik |
T |
C |
4: 62,450,903 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,051,342 (GRCm39) |
D118V |
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,912,598 (GRCm39) |
I1241N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,608 (GRCm39) |
D126G |
probably benign |
Het |
| BB014433 |
G |
T |
8: 15,092,510 (GRCm39) |
N114K |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,322 (GRCm39) |
V241E |
probably benign |
Het |
| Ccnjl |
A |
T |
11: 43,474,023 (GRCm39) |
K199N |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,000,190 (GRCm39) |
T130A |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,145,270 (GRCm39) |
N395K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,199,733 (GRCm39) |
V67A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,085,081 (GRCm39) |
R806H |
probably damaging |
Het |
| Extl3 |
G |
A |
14: 65,314,438 (GRCm39) |
P248L |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,555 (GRCm39) |
D205G |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,767,555 (GRCm39) |
V98L |
possibly damaging |
Het |
| Mex3c |
C |
T |
18: 73,722,960 (GRCm39) |
T351M |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,636 (GRCm39) |
S205T |
probably benign |
Het |
| Or10g3b |
A |
G |
14: 52,587,167 (GRCm39) |
V112A |
probably benign |
Het |
| Or5ar1 |
A |
T |
2: 85,671,706 (GRCm39) |
V143D |
probably benign |
Het |
| Or5g26 |
A |
T |
2: 85,494,700 (GRCm39) |
V26D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,451,743 (GRCm39) |
Y412H |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,309,172 (GRCm39) |
V75E |
probably benign |
Het |
| Sv2c |
A |
G |
13: 96,184,937 (GRCm39) |
C247R |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,728 (GRCm39) |
V403E |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,140,746 (GRCm39) |
V202A |
probably damaging |
Het |
| Zscan25 |
A |
G |
5: 145,220,559 (GRCm39) |
E118G |
probably damaging |
Het |
|
| Other mutations in Gpr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Gpr6
|
APN |
10 |
40,947,147 (GRCm39) |
missense |
probably benign |
|
|
IGL01098:Gpr6
|
APN |
10 |
40,946,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01323:Gpr6
|
APN |
10 |
40,947,555 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1153:Gpr6
|
UTSW |
10 |
40,946,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1154:Gpr6
|
UTSW |
10 |
40,946,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Gpr6
|
UTSW |
10 |
40,947,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Gpr6
|
UTSW |
10 |
40,947,544 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1638:Gpr6
|
UTSW |
10 |
40,946,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1935:Gpr6
|
UTSW |
10 |
40,947,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1936:Gpr6
|
UTSW |
10 |
40,947,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2108:Gpr6
|
UTSW |
10 |
40,946,649 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2129:Gpr6
|
UTSW |
10 |
40,947,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4024:Gpr6
|
UTSW |
10 |
40,947,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4237:Gpr6
|
UTSW |
10 |
40,946,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Gpr6
|
UTSW |
10 |
40,946,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Gpr6
|
UTSW |
10 |
40,947,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Gpr6
|
UTSW |
10 |
40,947,258 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6821:Gpr6
|
UTSW |
10 |
40,947,004 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7190:Gpr6
|
UTSW |
10 |
40,946,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Gpr6
|
UTSW |
10 |
40,946,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7574:Gpr6
|
UTSW |
10 |
40,946,652 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7611:Gpr6
|
UTSW |
10 |
40,946,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8011:Gpr6
|
UTSW |
10 |
40,946,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9416:Gpr6
|
UTSW |
10 |
40,946,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-04-20 |
Incidental Mutation