Incidental Mutation 'IGL02332:P2rx2'
ID |
288713 |
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 # |
IGL02332
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
110487678-110491078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110489671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 116
(S116G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007296]
[ENSMUST00000058016]
[ENSMUST00000112478]
[ENSMUST00000112481]
[ENSMUST00000185691]
[ENSMUST00000195985]
[ENSMUST00000200037]
[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: S215G
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000054233 Gene: ENSMUSG00000029503 AA Change: S215G
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: S203G
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108097 Gene: ENSMUSG00000029503 AA Change: S203G
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
AA Change: S203G
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143047 Gene: ENSMUSG00000029503 AA Change: S203G
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
AA Change: S203G
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143554 Gene: ENSMUSG00000029503 AA Change: S203G
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
AA Change: S116G
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142567 Gene: ENSMUSG00000029503 AA Change: S116G
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
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B24Rik |
A |
G |
3: 48,563,323 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
T |
11: 9,241,482 (GRCm39) |
Y1115F |
probably damaging |
Het |
Adam29 |
T |
A |
8: 56,324,775 (GRCm39) |
I560F |
probably damaging |
Het |
Bivm |
T |
C |
1: 44,167,880 (GRCm39) |
|
probably benign |
Het |
Brinp1 |
C |
A |
4: 68,823,121 (GRCm39) |
R24L |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,761,829 (GRCm39) |
Y562H |
probably damaging |
Het |
Cr2 |
C |
A |
1: 194,842,630 (GRCm39) |
Q256H |
probably benign |
Het |
Dhcr7 |
A |
T |
7: 143,396,865 (GRCm39) |
N119I |
probably damaging |
Het |
Dio1 |
A |
T |
4: 107,150,978 (GRCm39) |
Y169N |
probably damaging |
Het |
Dmbt1 |
C |
T |
7: 130,668,343 (GRCm39) |
|
probably benign |
Het |
Eogt |
T |
G |
6: 97,102,566 (GRCm39) |
H249P |
probably damaging |
Het |
Ermard |
A |
C |
17: 15,210,807 (GRCm39) |
|
probably null |
Het |
Exoc4 |
T |
C |
6: 33,226,175 (GRCm39) |
|
probably null |
Het |
Fxr2 |
G |
T |
11: 69,540,664 (GRCm39) |
|
probably null |
Het |
Glyr1 |
G |
T |
16: 4,836,817 (GRCm39) |
T443N |
probably damaging |
Het |
Gm14137 |
T |
G |
2: 119,005,807 (GRCm39) |
L122R |
probably damaging |
Het |
Gm4845 |
C |
A |
1: 141,184,335 (GRCm39) |
|
noncoding transcript |
Het |
Gm8258 |
A |
G |
5: 104,923,768 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
G |
A |
3: 63,897,990 (GRCm39) |
R258H |
probably benign |
Het |
Itga6 |
T |
G |
2: 71,668,717 (GRCm39) |
L552R |
possibly damaging |
Het |
Itgam |
T |
A |
7: 127,684,846 (GRCm39) |
|
probably null |
Het |
Itgb5 |
G |
T |
16: 33,740,500 (GRCm39) |
E224* |
probably null |
Het |
Itih4 |
C |
A |
14: 30,609,817 (GRCm39) |
A49D |
probably damaging |
Het |
Itpr2 |
A |
T |
6: 146,328,040 (GRCm39) |
N64K |
probably damaging |
Het |
Moap1 |
T |
C |
12: 102,709,066 (GRCm39) |
Y161C |
probably benign |
Het |
Mst1r |
G |
T |
9: 107,785,025 (GRCm39) |
G228* |
probably null |
Het |
Myo1g |
T |
C |
11: 6,470,766 (GRCm39) |
D30G |
possibly damaging |
Het |
Ndn |
T |
A |
7: 61,998,573 (GRCm39) |
C140S |
probably damaging |
Het |
Nek5 |
G |
T |
8: 22,585,277 (GRCm39) |
Q367K |
probably benign |
Het |
Nrdc |
A |
T |
4: 108,858,185 (GRCm39) |
R52S |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,634,571 (GRCm39) |
L1007Q |
probably damaging |
Het |
Or51k2 |
T |
C |
7: 103,596,127 (GRCm39) |
M118T |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,864,556 (GRCm39) |
D3G |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,409 (GRCm39) |
L200Q |
probably damaging |
Het |
Pcdhb13 |
G |
A |
18: 37,576,635 (GRCm39) |
V338M |
probably benign |
Het |
Pdcl2 |
A |
T |
5: 76,466,982 (GRCm39) |
Y70* |
probably null |
Het |
Ppm1e |
T |
C |
11: 87,122,568 (GRCm39) |
H463R |
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,731,951 (GRCm39) |
C134S |
possibly damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,057,602 (GRCm39) |
F180L |
possibly damaging |
Het |
Pxn |
A |
G |
5: 115,682,985 (GRCm39) |
S96G |
probably benign |
Het |
Rasa4 |
G |
T |
5: 136,124,453 (GRCm39) |
Q167H |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,757,640 (GRCm39) |
I43V |
possibly damaging |
Het |
Sez6 |
C |
T |
11: 77,845,568 (GRCm39) |
|
probably benign |
Het |
Slc39a6 |
A |
T |
18: 24,722,880 (GRCm39) |
D473E |
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,842,885 (GRCm39) |
D68G |
probably damaging |
Het |
Syt13 |
T |
C |
2: 92,771,149 (GRCm39) |
F79L |
probably benign |
Het |
Tas2r103 |
A |
T |
6: 133,013,475 (GRCm39) |
M197K |
probably benign |
Het |
Tbrg4 |
A |
G |
11: 6,568,492 (GRCm39) |
V429A |
probably damaging |
Het |
Tuft1 |
A |
C |
3: 94,523,075 (GRCm39) |
|
probably null |
Het |
Uqcrc1 |
A |
G |
9: 108,776,937 (GRCm39) |
T80A |
probably damaging |
Het |
Vps18 |
A |
G |
2: 119,124,291 (GRCm39) |
N406S |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,868,510 (GRCm39) |
W188R |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,807,335 (GRCm39) |
S2738A |
probably benign |
Het |
|
Other mutations in P2rx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |