Incidental Mutation 'IGL03147:Gpr161'
ID |
453097 |
Institutional Source |
Beutler Lab
|
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 # |
IGL03147 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
165123358-165154314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 165144877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 389
(T389A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107077
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111450]
[ENSMUST00000178700]
|
AlphaFold |
B2RPY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111450
AA Change: T389A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107077 Gene: ENSMUSG00000040836 AA Change: T389A
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: T406A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000136621 Gene: ENSMUSG00000040836 AA Change: T406A
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 |
|
Meta Mutation Damage Score |
0.0763 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
91% (39/43) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
Ano3 |
A |
G |
2: 110,527,763 (GRCm39) |
S552P |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Deup1 |
A |
T |
9: 15,521,910 (GRCm39) |
M85K |
probably damaging |
Het |
Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
Exo1 |
A |
G |
1: 175,716,354 (GRCm39) |
Y157C |
probably damaging |
Het |
Ext1 |
T |
A |
15: 52,951,468 (GRCm39) |
I539F |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,748,917 (GRCm39) |
V1849A |
possibly damaging |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Mir205hg |
T |
A |
1: 193,189,768 (GRCm39) |
|
noncoding transcript |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,309,342 (GRCm39) |
Y1318F |
probably damaging |
Het |
Or4c120 |
A |
G |
2: 89,001,316 (GRCm39) |
M80T |
probably benign |
Het |
Pml |
T |
C |
9: 58,137,326 (GRCm39) |
H491R |
possibly damaging |
Het |
Rbmxl2 |
T |
G |
7: 106,808,858 (GRCm39) |
S48A |
probably benign |
Het |
Rgs6 |
A |
G |
12: 83,138,620 (GRCm39) |
D318G |
probably damaging |
Het |
Rmc1 |
T |
C |
18: 12,302,286 (GRCm39) |
|
probably benign |
Het |
Sfi1 |
G |
A |
11: 3,136,080 (GRCm39) |
T84I |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,773,519 (GRCm39) |
M275V |
possibly damaging |
Het |
Sp110 |
GC |
GCC |
1: 85,519,288 (GRCm39) |
|
probably null |
Het |
Specc1 |
T |
C |
11: 62,009,108 (GRCm39) |
V288A |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,732,377 (GRCm39) |
V118I |
probably damaging |
Het |
St8sia2 |
C |
A |
7: 73,616,567 (GRCm39) |
C136F |
probably damaging |
Het |
Stmn3 |
A |
T |
2: 180,950,993 (GRCm39) |
I21N |
possibly damaging |
Het |
Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,542,311 (GRCm39) |
K25231N |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Vmn1r11 |
A |
T |
6: 57,114,650 (GRCm39) |
I68F |
probably damaging |
Het |
Zfr |
T |
A |
15: 12,140,638 (GRCm39) |
Y228* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGATATCTGTCTCCCAGTG -3'
(R):5'- AGGAAACCTAGCTTCTGCCTC -3'
Sequencing Primer
(F):5'- ATATCTGTCTCCCAGTGGATCAGGAG -3'
(R):5'- GGAAACCTAGCTTCTGCCTCTTACC -3'
|
Posted On |
2017-01-27 |