Incidental Mutation 'IGL02332:P2rx2'
ID288713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx2
Ensembl Gene ENSMUSG00000029503
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 2
SynonymsP2x2, P2X2a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02332
Quality Score
Status
Chromosome5
Chromosomal Location110339812-110343212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110341805 bp
ZygosityHeterozygous
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] [ENSMUST00000186408] [ENSMUST00000195985] [ENSMUST00000200037] [ENSMUST00000200214]
Predicted Effect probably benign
Transcript: ENSMUST00000007296
SMART Domains Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: S203G

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143047
Gene: ENSMUSG00000029503
AA Change: S203G

DomainStartEndE-ValueType
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: ENSMUST00000200037
AA Change: S203G

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143554
Gene: ENSMUSG00000029503
AA Change: S203G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:P2X_receptor 1 306 1.3e-117 PFAM
low complexity region 332 349 N/A INTRINSIC
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in P2rx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02523:P2rx2 APN 5 110342042 missense probably damaging 0.98
IGL02535:P2rx2 APN 5 110342353 missense probably benign 0.02
IGL02663:P2rx2 APN 5 110340249 missense possibly damaging 0.84
IGL02663:P2rx2 APN 5 110340186 unclassified probably null
IGL02756:P2rx2 APN 5 110342410 splice site probably benign
IGL03177:P2rx2 APN 5 110341613 missense probably damaging 1.00
R0382:P2rx2 UTSW 5 110341179 missense probably benign 0.25
R2092:P2rx2 UTSW 5 110341141 missense probably damaging 1.00
R2104:P2rx2 UTSW 5 110341141 missense probably damaging 1.00
R2226:P2rx2 UTSW 5 110342879 missense probably damaging 0.98
R2395:P2rx2 UTSW 5 110341661 missense probably damaging 1.00
R4854:P2rx2 UTSW 5 110340927 missense probably damaging 0.99
R4863:P2rx2 UTSW 5 110341568 missense probably benign 0.23
R5125:P2rx2 UTSW 5 110342651 missense possibly damaging 0.59
R5250:P2rx2 UTSW 5 110341588 missense probably damaging 0.98
R5366:P2rx2 UTSW 5 110341828 missense probably damaging 1.00
R5559:P2rx2 UTSW 5 110340561 missense possibly damaging 0.90
R5827:P2rx2 UTSW 5 110340329 missense probably benign 0.03
R7617:P2rx2 UTSW 5 110342084 missense probably damaging 1.00
R7792:P2rx2 UTSW 5 110340344 missense possibly damaging 0.90
Posted On2015-04-16