Incidental Mutation 'R5824:Gpr161'
| ID |
501601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr161
|
| Ensembl Gene |
ENSMUSG00000040836 |
| Gene Name |
G protein-coupled receptor 161 |
| Synonyms |
vl, LOC240888 |
| MMRRC Submission |
043216-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
165123358-165154314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 165138560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 382
(T382K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111450]
[ENSMUST00000178700]
|
| AlphaFold |
B2RPY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111450
AA Change: T365K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: T365K
| 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 |
possibly damaging
Transcript: ENSMUST00000178700
AA Change: T382K
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: T382K
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
| Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
| Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
| Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
| Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGTCCTTTACCAGTGC -3'
(R):5'- CATTCTCCAGGGATGGGTAC -3'
Sequencing Primer
(F):5'- TACCAGTGCCATCTGCCAC -3'
(R):5'- ACCAGGGGCTATTGTGTCCTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation