Incidental Mutation 'R0382:P2rx2'
| ID |
31010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P2rx2
|
| Ensembl Gene |
ENSMUSG00000029503 |
| Gene Name |
purinergic receptor P2X, ligand-gated ion channel, 2 |
| Synonyms |
P2X2a, P2x2 |
| MMRRC Submission |
038588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0382 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110489045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 289
(E289V)
|
| 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 benign
Transcript: ENSMUST00000058016
AA Change: E289V
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: E289V
| 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: E277V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108097
Gene: ENSMUSG00000029503
AA Change: E277V
| 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: ENSMUST00000200037
AA Change: E277V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: E277V
| 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: ENSMUST00000195985
AA Change: E277V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: E277V
| 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: ENSMUST00000200214
AA Change: E190V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: E190V
| 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: ENSMUST00000199165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186408
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,923,901 (GRCm39) |
Q266L |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,586,650 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
T |
C |
11: 80,069,211 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,545 (GRCm39) |
R662G |
possibly damaging |
Het |
| Celsr3 |
C |
A |
9: 108,706,417 (GRCm39) |
P967T |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,802,680 (GRCm39) |
|
probably benign |
Het |
| Ckm |
T |
C |
7: 19,155,309 (GRCm39) |
*382Q |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,315,403 (GRCm39) |
V73A |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,256 (GRCm39) |
V1944E |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,632,754 (GRCm39) |
D1473V |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,435,342 (GRCm39) |
M172T |
probably benign |
Het |
| Dcaf12 |
T |
C |
4: 41,302,672 (GRCm39) |
N161S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,822 (GRCm39) |
Y75C |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,758,966 (GRCm39) |
V388A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,052 (GRCm39) |
C3780R |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,458,021 (GRCm39) |
*401R |
probably null |
Het |
| Fbxo5 |
G |
T |
10: 5,751,176 (GRCm39) |
Y270* |
probably null |
Het |
| Fnbp1l |
A |
T |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,613,141 (GRCm39) |
S3P |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,001,080 (GRCm39) |
D309G |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,669 (GRCm39) |
D192G |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,444,631 (GRCm39) |
S1080P |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,536,971 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
A |
G |
15: 88,869,796 (GRCm39) |
Y59C |
possibly damaging |
Het |
| Natd1 |
C |
T |
11: 60,797,739 (GRCm39) |
R62H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,931,132 (GRCm39) |
T5835A |
probably damaging |
Het |
| Or4c31 |
A |
T |
2: 88,292,069 (GRCm39) |
R147S |
possibly damaging |
Het |
| Or5j3 |
A |
G |
2: 86,128,937 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or6c66b |
T |
C |
10: 129,376,883 (GRCm39) |
I159T |
probably benign |
Het |
| Or7a38 |
T |
A |
10: 78,752,960 (GRCm39) |
Y95* |
probably null |
Het |
| Patl1 |
T |
A |
19: 11,902,596 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,591 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
C |
T |
3: 36,235,118 (GRCm39) |
C253Y |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,487,363 (GRCm39) |
D540E |
probably damaging |
Het |
| Rbm45 |
T |
A |
2: 76,200,555 (GRCm39) |
I28N |
possibly damaging |
Het |
| Rnf170 |
A |
T |
8: 26,615,927 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
G |
A |
15: 80,892,515 (GRCm39) |
W280* |
probably null |
Het |
| Slc9a9 |
A |
T |
9: 94,567,270 (GRCm39) |
H113L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,183 (GRCm39) |
C78F |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,920,360 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn8 |
T |
A |
11: 82,895,382 (GRCm39) |
I475F |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,656,319 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
T |
2: 37,490,838 (GRCm39) |
N472K |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,411,760 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,150 (GRCm39) |
L664P |
probably damaging |
Het |
| Uap1 |
T |
A |
1: 169,989,051 (GRCm39) |
M124L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,529 (GRCm39) |
N536S |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,619,848 (GRCm39) |
I155F |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,649,567 (GRCm39) |
I672T |
probably benign |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,578 (GRCm39) |
M242K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,098 (GRCm39) |
N397H |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,463 (GRCm39) |
Y395C |
probably damaging |
Het |
| Vps41 |
C |
A |
13: 19,011,897 (GRCm39) |
H335N |
probably benign |
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 |
|
|
IGL03177:P2rx2
|
APN |
5 |
110,489,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTACCTGTCCATGCACAATAAC -3'
(R):5'- AGGCACCCGCTCAATTATTGACAC -3'
Sequencing Primer
(F):5'- CGAATCCCATAGGCTTTGATGAG -3'
(R):5'- ATTGACACCTGGTCCCATGAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation