Incidental Mutation 'IGL02663:P2rx2'
ID |
302641 |
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 # |
IGL02663
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
Type of Mutation |
splice site (2733 bp from exon) |
DNA Base Change (assembly) |
G to T
at 110488052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000195985]
[ENSMUST00000200037]
[ENSMUST00000200214]
[ENSMUST00000186408]
|
AlphaFold |
Q8K3P1 |
Predicted Effect |
probably null
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
|
SMART Domains |
Protein: ENSMUSP00000054233 Gene: ENSMUSG00000029503
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
|
SMART Domains |
Protein: ENSMUSP00000108097 Gene: ENSMUSG00000029503
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000199165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190060
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195985
|
SMART Domains |
Protein: ENSMUSP00000143047 Gene: ENSMUSG00000029503
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
|
SMART Domains |
Protein: ENSMUSP00000143554 Gene: ENSMUSG00000029503
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
|
SMART Domains |
Protein: ENSMUSP00000142567 Gene: ENSMUSG00000029503
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 |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl9 |
A |
C |
3: 97,112,648 (GRCm39) |
F1269C |
probably damaging |
Het |
Cdc20b |
T |
A |
13: 113,192,665 (GRCm39) |
|
probably null |
Het |
Chrna1 |
A |
G |
2: 73,404,660 (GRCm39) |
|
probably benign |
Het |
Creb5 |
A |
G |
6: 53,657,946 (GRCm39) |
H236R |
probably damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,661,005 (GRCm39) |
F93S |
probably damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,467,787 (GRCm39) |
L257H |
probably damaging |
Het |
Dnai3 |
A |
T |
3: 145,760,312 (GRCm39) |
M692K |
possibly damaging |
Het |
Fahd1 |
C |
T |
17: 25,068,478 (GRCm39) |
G200R |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,618,380 (GRCm39) |
|
probably benign |
Het |
Mfhas1 |
G |
T |
8: 36,057,060 (GRCm39) |
V512L |
probably damaging |
Het |
Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
Nfia |
A |
G |
4: 97,929,856 (GRCm39) |
T339A |
probably benign |
Het |
Npas3 |
T |
C |
12: 54,115,691 (GRCm39) |
L840P |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,821,641 (GRCm39) |
T2A |
probably benign |
Het |
Or11g7 |
A |
G |
14: 50,691,309 (GRCm39) |
T267A |
probably benign |
Het |
Or14j10 |
A |
T |
17: 37,934,935 (GRCm39) |
I197K |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,290,743 (GRCm39) |
V302A |
probably benign |
Het |
Ppp1r8 |
G |
A |
4: 132,560,419 (GRCm39) |
T94I |
probably damaging |
Het |
S100a11 |
A |
T |
3: 93,431,464 (GRCm39) |
E33D |
probably damaging |
Het |
Sec31b |
C |
A |
19: 44,522,717 (GRCm39) |
A92S |
probably damaging |
Het |
Serpina3g |
C |
T |
12: 104,205,399 (GRCm39) |
T46I |
possibly damaging |
Het |
Sgo2b |
A |
T |
8: 64,396,148 (GRCm39) |
I36N |
probably damaging |
Het |
Slc35e1 |
A |
G |
8: 73,242,053 (GRCm39) |
L223P |
probably damaging |
Het |
St14 |
T |
C |
9: 31,011,678 (GRCm39) |
|
probably null |
Het |
Sult2a8 |
A |
G |
7: 14,159,368 (GRCm39) |
Y84H |
possibly damaging |
Het |
Tas1r2 |
T |
C |
4: 139,387,593 (GRCm39) |
Y322H |
probably benign |
Het |
Tmem59 |
T |
C |
4: 107,054,738 (GRCm39) |
L181P |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,146,963 (GRCm39) |
|
probably null |
Het |
Ube2h |
A |
G |
6: 30,241,412 (GRCm39) |
V86A |
probably damaging |
Het |
Vmn2r22 |
A |
T |
6: 123,626,117 (GRCm39) |
H106Q |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,339,802 (GRCm39) |
V681A |
possibly 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 |
110,488,115 (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 |