Incidental Mutation 'IGL02535:P2rx2'
| ID |
297448 |
| 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 # |
IGL02535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110490219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 134
(T134S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000195985]
[ENSMUST00000200037]
[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 benign
Transcript: ENSMUST00000058016
AA Change: T134S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: T134S
| 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 benign
Transcript: ENSMUST00000112478
AA Change: T122S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: T122S
| 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 benign
Transcript: ENSMUST00000195985
AA Change: T122S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: T122S
| 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 benign
Transcript: ENSMUST00000200037
AA Change: T122S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: T122S
| 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 benign
Transcript: ENSMUST00000200214
AA Change: T35S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: T35S
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,773,520 (GRCm39) |
N430D |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,807,136 (GRCm39) |
D486E |
possibly damaging |
Het |
| Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
| Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
| Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
| Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,790 (GRCm39) |
E347G |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
| Fbxl2 |
T |
C |
9: 113,808,575 (GRCm39) |
E372G |
probably benign |
Het |
| Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
| Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
| Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
| Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
| Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
| Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
| Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
| Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
| Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,667 (GRCm39) |
R294* |
probably null |
Het |
| Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
| Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
| Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
IGL03177:P2rx2
|
APN |
5 |
110,489,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation