Incidental Mutation 'IGL02756:P2rx2'
| ID |
306472 |
| 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 # |
IGL02756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 110490276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000195985]
[ENSMUST00000200214]
[ENSMUST00000200037]
[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
|
| 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 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000199165
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000190060
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,970 (GRCm39) |
D54V |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,440,976 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,919,399 (GRCm39) |
L53Q |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,447,588 (GRCm39) |
T1461A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,535 (GRCm39) |
V115D |
probably damaging |
Het |
| Cabp4 |
C |
A |
19: 4,188,560 (GRCm39) |
V173L |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,042,672 (GRCm39) |
D230V |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,936,824 (GRCm39) |
I821V |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,944,239 (GRCm39) |
Y1494C |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,951,069 (GRCm39) |
S215T |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,049 (GRCm39) |
E593G |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
| Ddx19b |
T |
C |
8: 111,737,910 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,716 (GRCm39) |
L1396Q |
probably benign |
Het |
| Ermn |
A |
G |
2: 57,937,824 (GRCm39) |
I263T |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,568,880 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Far2 |
A |
T |
6: 148,058,889 (GRCm39) |
I192F |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,218 (GRCm39) |
I29F |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,811 (GRCm39) |
Y251N |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,890 (GRCm39) |
I997V |
possibly damaging |
Het |
| Gprc5d |
A |
G |
6: 135,093,613 (GRCm39) |
V98A |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,580 (GRCm39) |
E186G |
probably damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,685 (GRCm39) |
T115I |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,689,597 (GRCm39) |
T527M |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,842,332 (GRCm39) |
A512T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,235 (GRCm39) |
D135G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,784,016 (GRCm39) |
V1394A |
probably benign |
Het |
| Nek9 |
A |
C |
12: 85,358,110 (GRCm39) |
|
probably null |
Het |
| Or51q1c |
T |
C |
7: 103,652,866 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,402 (GRCm39) |
S210P |
probably damaging |
Het |
| P4htm |
A |
G |
9: 108,456,977 (GRCm39) |
L410P |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,963,748 (GRCm39) |
W921R |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,175 (GRCm39) |
F288L |
probably benign |
Het |
| Ppp4r3a |
C |
T |
12: 101,024,582 (GRCm39) |
|
probably null |
Het |
| Prss34 |
T |
C |
17: 25,518,251 (GRCm39) |
S144P |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,758,110 (GRCm39) |
T328A |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,391,945 (GRCm39) |
T65S |
probably damaging |
Het |
| Rdh8 |
A |
G |
9: 20,736,637 (GRCm39) |
S235G |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,884,500 (GRCm39) |
K6R |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,587,560 (GRCm39) |
D1025G |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,509 (GRCm39) |
N564K |
probably damaging |
Het |
| Slc43a3 |
A |
T |
2: 84,774,612 (GRCm39) |
M130L |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,274,145 (GRCm39) |
I89V |
probably benign |
Het |
| St3gal5 |
A |
G |
6: 72,126,157 (GRCm39) |
D307G |
probably null |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,193 (GRCm39) |
|
noncoding transcript |
Het |
| Tacr2 |
A |
G |
10: 62,097,469 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
T |
15: 66,606,435 (GRCm39) |
T193I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,596,179 (GRCm39) |
T191A |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,374,256 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
T |
7: 30,646,417 (GRCm39) |
C134* |
probably null |
Het |
| Usp14 |
A |
G |
18: 10,001,769 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,692,270 (GRCm39) |
S911P |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,574 (GRCm39) |
S131T |
possibly damaging |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,145 (GRCm39) |
I657T |
probably damaging |
Het |
| Zfp935 |
A |
T |
13: 62,602,701 (GRCm39) |
C166* |
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 |
|
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 |
|
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