Incidental Mutation 'R5547:Gpr161'
| ID |
436328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr161
|
| Ensembl Gene |
ENSMUSG00000040836 |
| Gene Name |
G protein-coupled receptor 161 |
| Synonyms |
vl, LOC240888 |
| MMRRC Submission |
043105-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5547 (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 165133982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 81
(F81L)
|
| 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: F64L
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: F64L
| 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: F81L
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: F81L
| 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: 98.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,661,356 (GRCm39) |
S492P |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,231,201 (GRCm39) |
D1133E |
probably damaging |
Het |
| Avpi1 |
T |
C |
19: 42,113,382 (GRCm39) |
K25R |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,110 (GRCm39) |
S708G |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,794 (GRCm39) |
E202G |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,970 (GRCm39) |
V860E |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,698 (GRCm39) |
V138E |
probably damaging |
Het |
| Cdip1 |
A |
G |
16: 4,587,988 (GRCm39) |
S2P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,428 (GRCm39) |
N702S |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,623,400 (GRCm39) |
I381V |
probably benign |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cryz |
C |
T |
3: 154,317,194 (GRCm39) |
R138* |
probably null |
Het |
| Ctsll3 |
T |
A |
13: 60,948,551 (GRCm39) |
M103L |
probably benign |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Daxx |
CGATGATGATGA |
CGA |
17: 34,131,633 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,469,097 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,948 (GRCm39) |
S505C |
probably damaging |
Het |
| H2-T15 |
G |
A |
17: 36,368,796 (GRCm39) |
H95Y |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,613,257 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,250,243 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
A |
3: 65,576,601 (GRCm39) |
|
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,572,675 (GRCm39) |
Q98R |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,879,330 (GRCm39) |
K681E |
possibly damaging |
Het |
| Numa1 |
G |
T |
7: 101,663,137 (GRCm39) |
A735S |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,884,598 (GRCm39) |
L446Q |
probably benign |
Het |
| Or5ac19 |
G |
A |
16: 59,089,479 (GRCm39) |
L184F |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,909 (GRCm39) |
E1735K |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,729,488 (GRCm39) |
D119G |
probably benign |
Het |
| Pgpep1 |
T |
C |
8: 71,105,069 (GRCm39) |
K64E |
probably benign |
Het |
| Prr19 |
A |
C |
7: 25,003,388 (GRCm39) |
D334A |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,557,221 (GRCm39) |
S691* |
probably null |
Het |
| Recql4 |
G |
A |
15: 76,589,994 (GRCm39) |
R684* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,302 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tdo2 |
T |
C |
3: 81,866,247 (GRCm39) |
R339G |
probably damaging |
Het |
| Tmem245 |
C |
T |
4: 56,910,156 (GRCm39) |
|
probably null |
Het |
| Trim24 |
A |
G |
6: 37,942,485 (GRCm39) |
E965G |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,156 (GRCm39) |
S103P |
probably damaging |
Het |
| Trpv6 |
A |
T |
6: 41,613,088 (GRCm39) |
V26D |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,688,844 (GRCm39) |
C455R |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,873 (GRCm39) |
I209T |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,406 (GRCm39) |
N131S |
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 |
|
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'- TGACCATGAGCCTCAACTCC -3'
(R):5'- AGCTCTCCAAGTCTGATGCAAAC -3'
Sequencing Primer
(F):5'- TCCTCCCTCAGCTACAGGAAGG -3'
(R):5'- CTGATGCAAACTTACCGATCGATGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation