Incidental Mutation 'IGL03378:Gpr161'
| ID |
420577 |
| 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 # |
IGL03378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165123358-165154314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165138077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 204
(L204P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111450]
[ENSMUST00000178700]
|
| AlphaFold |
B2RPY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111450
AA Change: L204P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107077
Gene: ENSMUSG00000040836
AA Change: L204P
| 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: L221P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136621
Gene: ENSMUSG00000040836
AA Change: L221P
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
A |
15: 34,355,778 (GRCm39) |
I261N |
probably benign |
Het |
| Bace1 |
T |
A |
9: 45,770,199 (GRCm39) |
|
probably null |
Het |
| Caprin2 |
G |
T |
6: 148,779,352 (GRCm39) |
Q152K |
probably benign |
Het |
| Cdh16 |
C |
T |
8: 105,345,917 (GRCm39) |
D285N |
probably benign |
Het |
| Cnnm2 |
G |
A |
19: 46,866,473 (GRCm39) |
A874T |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,285,722 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
C |
7: 105,362,940 (GRCm39) |
E3834A |
possibly damaging |
Het |
| Erc2 |
A |
C |
14: 27,733,680 (GRCm39) |
S585R |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,819,005 (GRCm39) |
E269G |
probably damaging |
Het |
| Hp |
A |
G |
8: 110,302,339 (GRCm39) |
V203A |
probably damaging |
Het |
| Krtap6-5 |
A |
T |
16: 88,844,677 (GRCm39) |
C19S |
unknown |
Het |
| Lce1i |
A |
T |
3: 92,685,033 (GRCm39) |
S48T |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,261,496 (GRCm39) |
S4482T |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,337,285 (GRCm39) |
|
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,886,915 (GRCm39) |
F31S |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,498 (GRCm39) |
Y190* |
probably null |
Het |
| Or8k18 |
T |
A |
2: 86,085,363 (GRCm39) |
I225L |
possibly damaging |
Het |
| Papola |
G |
T |
12: 105,775,692 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
C |
7: 89,159,352 (GRCm39) |
D239G |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,382,220 (GRCm39) |
T83A |
unknown |
Het |
| Sh3pxd2b |
T |
G |
11: 32,331,443 (GRCm39) |
L56V |
probably damaging |
Het |
| Ski |
A |
G |
4: 155,245,329 (GRCm39) |
S300P |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,053,989 (GRCm39) |
S17P |
probably damaging |
Het |
| Svs5 |
C |
A |
2: 164,175,260 (GRCm39) |
H37Q |
probably benign |
Het |
| Tbx21 |
A |
G |
11: 97,005,567 (GRCm39) |
S133P |
probably benign |
Het |
| Tgfbr3 |
G |
T |
5: 107,257,568 (GRCm39) |
S830R |
probably damaging |
Het |
| Thsd1 |
A |
T |
8: 22,733,794 (GRCm39) |
K280N |
probably benign |
Het |
| Tnfrsf13c |
T |
A |
15: 82,108,513 (GRCm39) |
M1L |
probably benign |
Het |
| Ttll7 |
T |
C |
3: 146,615,408 (GRCm39) |
F291L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,599,907 (GRCm39) |
V10762A |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation