Incidental Mutation 'IGL03068:Gpr156'
| ID |
409757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr156
|
| Ensembl Gene |
ENSMUSG00000046961 |
| Gene Name |
G protein-coupled receptor 156 |
| Synonyms |
Gababl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37812491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 276
(V276M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061274
AA Change: V276M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: V276M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
61 |
313 |
2.6e-37 |
PFAM |
|
coiled coil region
|
353 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
766 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,311,171 (GRCm39) |
L14P |
probably damaging |
Het |
| Ak2 |
G |
T |
4: 128,901,819 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,246 (GRCm39) |
Y311C |
probably damaging |
Het |
| Arl9 |
C |
A |
5: 77,155,225 (GRCm39) |
L119I |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,491,175 (GRCm39) |
H620R |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,826,682 (GRCm39) |
D381G |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,375,246 (GRCm39) |
F292S |
possibly damaging |
Het |
| Comtd1 |
G |
A |
14: 21,897,711 (GRCm39) |
R203C |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,422,633 (GRCm39) |
A147S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,710,517 (GRCm39) |
H1586L |
possibly damaging |
Het |
| Ctnna1 |
G |
A |
18: 35,382,785 (GRCm39) |
E644K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,841,958 (GRCm39) |
D957G |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eefsec |
G |
T |
6: 88,235,209 (GRCm39) |
Q576K |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,994,927 (GRCm39) |
I1215L |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,394,766 (GRCm39) |
D160E |
probably benign |
Het |
| Exoc7 |
G |
A |
11: 116,191,960 (GRCm39) |
R197C |
possibly damaging |
Het |
| G6pc1 |
A |
G |
11: 101,261,576 (GRCm39) |
D92G |
probably benign |
Het |
| Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,601,068 (GRCm39) |
N96S |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,054,974 (GRCm39) |
S1153P |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,086,093 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,112,928 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
G |
T |
18: 74,103,415 (GRCm39) |
N31K |
probably damaging |
Het |
| Mccc2 |
T |
C |
13: 100,100,319 (GRCm39) |
T357A |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,570 (GRCm39) |
T343A |
probably benign |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,156,963 (GRCm39) |
E829G |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 75,848,208 (GRCm39) |
I873T |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,348 (GRCm39) |
K638* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,862,922 (GRCm39) |
S479P |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,037,407 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,194,769 (GRCm39) |
N470S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,987,521 (GRCm39) |
P1604S |
probably benign |
Het |
| Taf8 |
C |
A |
17: 47,812,290 (GRCm39) |
V39L |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,941 (GRCm39) |
E309G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,724,371 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,571,270 (GRCm39) |
K816M |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,180 (GRCm39) |
I354V |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,158 (GRCm39) |
N665Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,041 (GRCm39) |
T971A |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,803,137 (GRCm39) |
I349N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,646,143 (GRCm39) |
T504A |
probably benign |
Het |
| Ythdf3 |
T |
A |
3: 16,258,882 (GRCm39) |
V354E |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,474,677 (GRCm39) |
G13V |
probably damaging |
Het |
|
| Other mutations in Gpr156 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Gpr156
|
APN |
16 |
37,808,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01615:Gpr156
|
APN |
16 |
37,808,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Gpr156
|
APN |
16 |
37,799,395 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02217:Gpr156
|
APN |
16 |
37,825,673 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02515:Gpr156
|
APN |
16 |
37,826,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02596:Gpr156
|
APN |
16 |
37,799,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0690:Gpr156
|
UTSW |
16 |
37,812,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Gpr156
|
UTSW |
16 |
37,825,088 (GRCm39) |
missense |
probably benign |
|
|
R1133:Gpr156
|
UTSW |
16 |
37,825,683 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1317:Gpr156
|
UTSW |
16 |
37,807,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Gpr156
|
UTSW |
16 |
37,808,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1484:Gpr156
|
UTSW |
16 |
37,812,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Gpr156
|
UTSW |
16 |
37,768,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1761:Gpr156
|
UTSW |
16 |
37,807,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Gpr156
|
UTSW |
16 |
37,818,270 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2067:Gpr156
|
UTSW |
16 |
37,799,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2111:Gpr156
|
UTSW |
16 |
37,799,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2509:Gpr156
|
UTSW |
16 |
37,768,149 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2872:Gpr156
|
UTSW |
16 |
37,812,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2872:Gpr156
|
UTSW |
16 |
37,812,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Gpr156
|
UTSW |
16 |
37,808,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4492:Gpr156
|
UTSW |
16 |
37,812,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4988:Gpr156
|
UTSW |
16 |
37,768,577 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5329:Gpr156
|
UTSW |
16 |
37,825,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5361:Gpr156
|
UTSW |
16 |
37,826,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Gpr156
|
UTSW |
16 |
37,768,671 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5531:Gpr156
|
UTSW |
16 |
37,825,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5886:Gpr156
|
UTSW |
16 |
37,799,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Gpr156
|
UTSW |
16 |
37,825,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6345:Gpr156
|
UTSW |
16 |
37,807,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Gpr156
|
UTSW |
16 |
37,768,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Gpr156
|
UTSW |
16 |
37,812,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Gpr156
|
UTSW |
16 |
37,807,920 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8316:Gpr156
|
UTSW |
16 |
37,818,336 (GRCm39) |
missense |
probably null |
0.00 |
|
R8333:Gpr156
|
UTSW |
16 |
37,812,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Gpr156
|
UTSW |
16 |
37,768,598 (GRCm39) |
missense |
probably benign |
|
|
R8770:Gpr156
|
UTSW |
16 |
37,824,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9237:Gpr156
|
UTSW |
16 |
37,825,648 (GRCm39) |
nonsense |
probably null |
|
|
R9491:Gpr156
|
UTSW |
16 |
37,825,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9767:Gpr156
|
UTSW |
16 |
37,818,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gpr156
|
UTSW |
16 |
37,825,225 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2016-08-02 |
Incidental Mutation