Incidental Mutation 'R5827:P2rx2'
| ID |
450212 |
| 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 |
043218-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110488195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 453
(R453Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000200214]
[ENSMUST00000195985]
[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
AA Change: R453Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000054233
Gene: ENSMUSG00000029503
AA Change: R453Q
| 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: ENSMUST00000200214
AA Change: R354Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000142567
Gene: ENSMUSG00000029503
AA Change: R354Q
| 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: ENSMUST00000195985
AA Change: R441Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: R441Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000190060
|
| 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: ENSMUST00000186408
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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 |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
| Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
| H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
| Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
| Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
| Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
| Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
| Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
| Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
| Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
| Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
| Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
| Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
| Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
probably 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 |
|
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 |
|
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'- CAGATCCAGGTCTGTAGCTTAG -3'
(R):5'- AGGGCTCCTTTCTGTGTGAC -3'
Sequencing Primer
(F):5'- ATCCAGGTCTGTAGCTTAGTGAGG -3'
(R):5'- GCTCTACAGCCATAAGAAGTTCG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation