Incidental Mutation 'R5125:P2rx2'
| ID |
455884 |
| 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 |
042713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110490517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 66
(T66I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000185691]
[ENSMUST00000186408]
[ENSMUST00000195985]
[ENSMUST00000200214]
[ENSMUST00000200037]
|
| AlphaFold |
Q8K3P1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058016
AA Change: T66I
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: T66I
| 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: 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: ENSMUST00000186408
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
| Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
| Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
| Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
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 |
110,488,052 (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 |
|
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 |
|
| Posted On |
2017-02-14 |
Incidental Mutation