Incidental Mutation 'IGL01098:Gpr6'
ID |
52093 |
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 # |
IGL01098
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
40945973-40948281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40946739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 281
(T281I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061796]
|
AlphaFold |
Q6YNI2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061796
AA Change: T281I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057323 Gene: ENSMUSG00000046922 AA Change: T281I
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
Lrrc17 |
T |
A |
5: 21,780,269 (GRCm39) |
F414L |
probably benign |
Het |
Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
possibly damaging |
Het |
|
Other mutations in Gpr6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Gpr6
|
APN |
10 |
40,946,812 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01010:Gpr6
|
APN |
10 |
40,947,147 (GRCm39) |
missense |
probably benign |
|
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 |
2013-06-21 |