Incidental Mutation 'IGL02217:Gpr156'
| ID |
284930 |
| 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 # |
IGL02217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
37736858-37827892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37825673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 630
(D630G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061274
AA Change: D630G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000055958
Gene: ENSMUSG00000046961
AA Change: D630G
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,667,757 (GRCm39) |
T405S |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
| Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
| Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
| Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
| Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
| Ifi213 |
T |
G |
1: 173,422,598 (GRCm39) |
E89A |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
| Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
| Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
| Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
| Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
| Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
| Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
| Ptov1 |
C |
T |
7: 44,516,900 (GRCm39) |
G70R |
probably damaging |
Het |
| Qtrt1 |
T |
G |
9: 21,328,685 (GRCm39) |
|
probably null |
Het |
| Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
| Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
| Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
| Srpk2 |
A |
C |
5: 23,750,568 (GRCm39) |
V45G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
| Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
| Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation