Incidental Mutation 'IGL02502:P2rx7'
ID296095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx7
Ensembl Gene ENSMUSG00000029468
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 7
SynonymsP2X7R, P2X7 receptor, P2X(7)
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02502
Quality Score
Status
Chromosome5
Chromosomal Location122643911-122691432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 122680987 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 491 (R491C)
Ref Sequence ENSEMBL: ENSMUSP00000098303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031425] [ENSMUST00000100737] [ENSMUST00000121489]
Predicted Effect probably benign
Transcript: ENSMUST00000031425
SMART Domains Protein: ENSMUSP00000031425
Gene: ENSMUSG00000029468

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 403 1e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100737
AA Change: R491C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098303
Gene: ENSMUSG00000029468
AA Change: R491C

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 397 3.6e-158 PFAM
low complexity region 435 451 N/A INTRINSIC
low complexity region 516 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121489
SMART Domains Protein: ENSMUSP00000112440
Gene: ENSMUSG00000029468

DomainStartEndE-ValueType
Pfam:P2X_receptor 11 403 3.5e-149 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199371
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 and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene are fertile and viable with no obvious phenotypic abnormality. Cellular responses of macrophages to extracellular ATP are frequently normal however. In addition, long bones are thinner than normal in adult mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
C2cd2 G T 16: 97,876,390 S378Y possibly damaging Het
Cd101 C A 3: 101,011,825 A654S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I283V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3711C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Evpl T C 11: 116,222,718 D1382G probably damaging Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
G6pd2 T C 5: 61,809,628 Y249H probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ikbkg T A X: 74,443,827 V334E probably benign Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Myh10 A G 11: 68,814,372 probably null Het
Nbeal2 A G 9: 110,633,768 S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M36K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I96N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign Het
Other mutations in P2rx7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:P2rx7 APN 5 122676698 missense probably damaging 1.00
IGL01911:P2rx7 APN 5 122658768 missense probably damaging 0.99
IGL02375:P2rx7 APN 5 122673656 splice site probably benign
IGL03102:P2rx7 APN 5 122663605 missense possibly damaging 0.88
IGL03179:P2rx7 APN 5 122673700 missense possibly damaging 0.66
ailing UTSW 5 122673736 missense probably benign
Enfermo UTSW 5 122652789 missense probably damaging 0.98
Incapacitated UTSW 5 122673793 missense probably damaging 0.99
Sickpuppy UTSW 5 122681003 missense probably damaging 0.96
BB009:P2rx7 UTSW 5 122644182 missense probably benign 0.01
BB019:P2rx7 UTSW 5 122644182 missense probably benign 0.01
PIT1430001:P2rx7 UTSW 5 122681216 missense probably damaging 0.99
R0363:P2rx7 UTSW 5 122657030 nonsense probably null
R0558:P2rx7 UTSW 5 122673798 missense possibly damaging 0.83
R1186:P2rx7 UTSW 5 122670451 missense probably damaging 1.00
R1709:P2rx7 UTSW 5 122670465 missense possibly damaging 0.95
R1856:P2rx7 UTSW 5 122681032 missense probably damaging 1.00
R1899:P2rx7 UTSW 5 122673736 missense probably benign
R1905:P2rx7 UTSW 5 122680952 missense probably damaging 1.00
R2082:P2rx7 UTSW 5 122644095 missense possibly damaging 0.92
R2117:P2rx7 UTSW 5 122681266 missense probably benign 0.00
R2205:P2rx7 UTSW 5 122681101 missense probably damaging 1.00
R2446:P2rx7 UTSW 5 122680816 missense probably benign
R3151:P2rx7 UTSW 5 122681266 missense probably benign 0.00
R4052:P2rx7 UTSW 5 122666277 missense probably damaging 1.00
R4883:P2rx7 UTSW 5 122681066 missense probably damaging 1.00
R4930:P2rx7 UTSW 5 122670479 missense probably damaging 1.00
R5194:P2rx7 UTSW 5 122673795 missense probably benign 0.00
R5257:P2rx7 UTSW 5 122681003 missense probably damaging 0.96
R5258:P2rx7 UTSW 5 122681003 missense probably damaging 0.96
R5481:P2rx7 UTSW 5 122680820 missense possibly damaging 0.89
R5656:P2rx7 UTSW 5 122673717 missense probably damaging 0.99
R5738:P2rx7 UTSW 5 122652789 missense probably damaging 0.98
R6587:P2rx7 UTSW 5 122664550 missense probably damaging 1.00
R7098:P2rx7 UTSW 5 122673793 missense probably damaging 0.99
R7120:P2rx7 UTSW 5 122681294 missense probably benign
R7180:P2rx7 UTSW 5 122680820 missense possibly damaging 0.89
R7358:P2rx7 UTSW 5 122666142 critical splice acceptor site probably null
R7724:P2rx7 UTSW 5 122673373 missense probably benign 0.07
R7932:P2rx7 UTSW 5 122644182 missense probably benign 0.01
R8240:P2rx7 UTSW 5 122655033 missense probably damaging 1.00
Z1177:P2rx7 UTSW 5 122663641 missense probably damaging 1.00
Posted On2015-04-16