Incidental Mutation 'IGL03177:P2rx2'
| ID |
412046 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
P2rx2
|
| Ensembl Gene |
ENSMUSG00000029503 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 2 |
| Synonyms |
P2X2a, P2x2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110489479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 251
(I251V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000200037]
[ENSMUST00000195985]
[ENSMUST00000200214]
[ENSMUST00000186408]
|
| AlphaFold |
Q8K3P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007296
|
| SMART Domains |
Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
| Domain | Start | End | E-Value | Type |
|---|
|
POLBc
|
267 |
870 |
9.42e-97 |
SMART |
|
Blast:POLBc
|
903 |
970 |
1e-28 |
BLAST |
|
Blast:POLBc
|
1014 |
1073 |
2e-22 |
BLAST |
|
Blast:POLBc
|
1195 |
1266 |
7e-21 |
BLAST |
|
low complexity region
|
1275 |
1294 |
N/A |
INTRINSIC |
|
Blast:DUF1744
|
1401 |
1430 |
2e-7 |
BLAST |
|
DUF1744
|
1524 |
1924 |
1.9e-236 |
SMART |
|
coiled coil region
|
1936 |
1963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058016
AA Change: I251V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: I251V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
388 |
1.5e-149 |
PFAM |
|
low complexity region
|
419 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112478
AA Change: I239V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: I239V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
395 |
4e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112481
|
| SMART Domains |
Protein: ENSMUSP00000108100
Gene: ENSMUSG00000007080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1744
|
13 |
48 |
2.7e-13 |
PFAM |
|
coiled coil region
|
60 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185691
|
| SMART Domains |
Protein: ENSMUSP00000139397
Gene: ENSMUSG00000072754
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Colipase-like
|
26 |
85 |
3.8e-19 |
PFAM |
|
Pfam:Colipase-like
|
66 |
155 |
3.2e-35 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200037
AA Change: I239V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: I239V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
388 |
5.5e-149 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195985
AA Change: I239V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: I239V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:P2X_receptor
|
27 |
393 |
7.4e-144 |
PFAM |
|
low complexity region
|
419 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200214
AA Change: I152V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: I152V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P2X_receptor
|
1 |
306 |
1.3e-117 |
PFAM |
|
low complexity region
|
332 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186408
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice are viable and show no gross pathology. Mice show abnormal ventilatory and electrophysiological responses to hypoxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
| H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
| Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
| Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
| Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
| Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
| Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
| Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
| Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
| Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
| Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
| Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably damaging |
Het |
|
| Other mutations in P2rx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:P2rx2
|
APN |
5 |
110,489,671 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02523:P2rx2
|
APN |
5 |
110,489,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02535:P2rx2
|
APN |
5 |
110,490,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02663:P2rx2
|
APN |
5 |
110,488,052 (GRCm39) |
splice site |
probably null |
|
|
IGL02663:P2rx2
|
APN |
5 |
110,488,115 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02756:P2rx2
|
APN |
5 |
110,490,276 (GRCm39) |
splice site |
probably benign |
|
|
R0382:P2rx2
|
UTSW |
5 |
110,489,045 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2092:P2rx2
|
UTSW |
5 |
110,489,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:P2rx2
|
UTSW |
5 |
110,489,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2226:P2rx2
|
UTSW |
5 |
110,490,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2395:P2rx2
|
UTSW |
5 |
110,489,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:P2rx2
|
UTSW |
5 |
110,488,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4863:P2rx2
|
UTSW |
5 |
110,489,434 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5125:P2rx2
|
UTSW |
5 |
110,490,517 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5250:P2rx2
|
UTSW |
5 |
110,489,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5366:P2rx2
|
UTSW |
5 |
110,489,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5559:P2rx2
|
UTSW |
5 |
110,488,427 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5827:P2rx2
|
UTSW |
5 |
110,488,195 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7617:P2rx2
|
UTSW |
5 |
110,489,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:P2rx2
|
UTSW |
5 |
110,488,210 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8690:P2rx2
|
UTSW |
5 |
110,490,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:P2rx2
|
UTSW |
5 |
110,489,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:P2rx2
|
UTSW |
5 |
110,488,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9642:P2rx2
|
UTSW |
5 |
110,489,878 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9664:P2rx2
|
UTSW |
5 |
110,488,172 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9711:P2rx2
|
UTSW |
5 |
110,490,388 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2016-08-02 |
Incidental Mutation