Incidental Mutation 'IGL01763:Gpr161'
| ID |
153597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr161
|
| Ensembl Gene |
ENSMUSG00000040836 |
| Gene Name |
G protein-coupled receptor 161 |
| Synonyms |
vl, LOC240888 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165123358-165154314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165144820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 387
(S387P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111450]
[ENSMUST00000178700]
|
| AlphaFold |
B2RPY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111450
AA Change: S370P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: S370P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
48 |
261 |
1.1e-6 |
PFAM |
|
Pfam:7tm_1
|
57 |
337 |
3e-47 |
PFAM |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178700
AA Change: S387P
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: S387P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
63 |
273 |
1.5e-7 |
PFAM |
|
Pfam:7tm_1
|
72 |
352 |
9.2e-48 |
PFAM |
|
low complexity region
|
491 |
504 |
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.] Upon ligand binding, G protein-coupled receptors, such as GPR161, activate cytoplasmic G proteins (see GNAS, MIM 139320), allowing the receptors to transduce extracellular signals across the plasma membrane into the cell. Phosphorylation of the receptor attenuates signaling (Matteson et al., 2008 [PubMed 18250320]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a null mutation display complete embryonic lethality during organogenesis, extensive craniofacial abnormalities, ventralization of the neural tube with expansion of the floor plate, absence of limb development, and caudal spina bifida. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
| Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
probably benign |
Het |
|
| Other mutations in Gpr161 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Gpr161
|
APN |
1 |
165,146,372 (GRCm39) |
missense |
probably benign |
|
|
IGL01090:Gpr161
|
APN |
1 |
165,134,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01151:Gpr161
|
APN |
1 |
165,149,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Gpr161
|
APN |
1 |
165,149,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Gpr161
|
APN |
1 |
165,138,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Gpr161
|
APN |
1 |
165,138,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03147:Gpr161
|
UTSW |
1 |
165,144,877 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0367:Gpr161
|
UTSW |
1 |
165,144,805 (GRCm39) |
splice site |
probably benign |
|
|
R1827:Gpr161
|
UTSW |
1 |
165,134,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1970:Gpr161
|
UTSW |
1 |
165,133,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1991:Gpr161
|
UTSW |
1 |
165,134,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2425:Gpr161
|
UTSW |
1 |
165,138,192 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4805:Gpr161
|
UTSW |
1 |
165,134,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Gpr161
|
UTSW |
1 |
165,149,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5546:Gpr161
|
UTSW |
1 |
165,133,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5547:Gpr161
|
UTSW |
1 |
165,133,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5824:Gpr161
|
UTSW |
1 |
165,138,560 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6152:Gpr161
|
UTSW |
1 |
165,137,864 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6658:Gpr161
|
UTSW |
1 |
165,134,136 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6924:Gpr161
|
UTSW |
1 |
165,149,188 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7128:Gpr161
|
UTSW |
1 |
165,138,026 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7216:Gpr161
|
UTSW |
1 |
165,134,115 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7540:Gpr161
|
UTSW |
1 |
165,146,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Gpr161
|
UTSW |
1 |
165,134,005 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9053:Gpr161
|
UTSW |
1 |
165,134,166 (GRCm39) |
splice site |
probably benign |
|
|
R9076:Gpr161
|
UTSW |
1 |
165,133,757 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9259:Gpr161
|
UTSW |
1 |
165,138,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Gpr161
|
UTSW |
1 |
165,146,389 (GRCm39) |
nonsense |
probably null |
|
|
R9469:Gpr161
|
UTSW |
1 |
165,133,896 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2014-02-04 |
Incidental Mutation