Incidental Mutation 'IGL00943:Gpr156'
ID |
29160 |
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 # |
IGL00943
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37808938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 220
(Y220C)
|
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: Y220C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055958 Gene: ENSMUSG00000046961 AA Change: Y220C
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
G |
2: 31,680,824 (GRCm39) |
Y372C |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,295,869 (GRCm39) |
V382M |
possibly damaging |
Het |
Chkb |
A |
T |
15: 89,312,951 (GRCm39) |
V138E |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,806,765 (GRCm39) |
G2434* |
probably null |
Het |
Cpa3 |
A |
G |
3: 20,282,979 (GRCm39) |
V156A |
possibly damaging |
Het |
Dicer1 |
A |
C |
12: 104,663,031 (GRCm39) |
S1517A |
possibly damaging |
Het |
Dnajc14 |
T |
G |
10: 128,652,675 (GRCm39) |
S578A |
possibly damaging |
Het |
Dse |
A |
G |
10: 34,038,801 (GRCm39) |
Y201H |
probably damaging |
Het |
Fam114a2 |
A |
T |
11: 57,405,099 (GRCm39) |
M1K |
probably null |
Het |
Gm4847 |
A |
T |
1: 166,469,922 (GRCm39) |
S50R |
probably benign |
Het |
Grxcr1 |
T |
C |
5: 68,189,638 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,289,512 (GRCm39) |
V3824A |
probably benign |
Het |
Ino80b |
A |
T |
6: 83,101,129 (GRCm39) |
L116Q |
probably damaging |
Het |
Inpp5e |
A |
G |
2: 26,290,163 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,285,658 (GRCm39) |
C628R |
probably damaging |
Het |
Maml1 |
A |
G |
11: 50,149,541 (GRCm39) |
V733A |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,424,685 (GRCm39) |
L635P |
probably damaging |
Het |
Myh15 |
A |
T |
16: 48,986,176 (GRCm39) |
I1549F |
probably damaging |
Het |
Myo1b |
T |
A |
1: 51,823,646 (GRCm39) |
I414F |
probably damaging |
Het |
Nlrc3 |
T |
A |
16: 3,782,981 (GRCm39) |
I159F |
possibly damaging |
Het |
Nvl |
A |
T |
1: 180,929,199 (GRCm39) |
D727E |
possibly damaging |
Het |
Or1l4 |
T |
C |
2: 37,092,183 (GRCm39) |
V310A |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,896,366 (GRCm39) |
I348V |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,805,922 (GRCm39) |
V592E |
probably damaging |
Het |
Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
Slc26a7 |
T |
C |
4: 14,506,477 (GRCm39) |
D624G |
probably benign |
Het |
Slc39a6 |
A |
G |
18: 24,722,802 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
T |
C |
19: 40,283,484 (GRCm39) |
|
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,261,631 (GRCm39) |
M56K |
possibly damaging |
Het |
Togaram2 |
C |
T |
17: 72,031,999 (GRCm39) |
R873C |
probably damaging |
Het |
Tubgcp6 |
G |
A |
15: 89,006,600 (GRCm39) |
R141* |
probably null |
Het |
Vill |
A |
G |
9: 118,892,380 (GRCm39) |
E337G |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,338,185 (GRCm39) |
L11S |
possibly damaging |
Het |
|
Other mutations in Gpr156 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03068:Gpr156
|
APN |
16 |
37,812,491 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-04-17 |