Incidental Mutation 'IGL01151:Gpr161'
ID |
50358 |
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 # |
IGL01151
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
165123358-165154314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 165149078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 482
(L482F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111450]
[ENSMUST00000178700]
|
AlphaFold |
B2RPY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111450
AA Change: L465F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107077 Gene: ENSMUSG00000040836 AA Change: L465F
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 damaging
Transcript: ENSMUST00000178700
AA Change: L482F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136621 Gene: ENSMUSG00000040836 AA Change: L482F
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
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 |
IGL01763:Gpr161
|
APN |
1 |
165,144,820 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
2013-06-21 |