Incidental Mutation 'IGL03079:P2rx5'
ID417797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 5
SynonymsP2X5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03079
Quality Score
Status
Chromosome11
Chromosomal Location73160421-73172685 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73164888 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 57 (D57G)
Ref Sequence ENSEMBL: ENSMUSP00000006104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006104
AA Change: D57G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: D57G

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135202
AA Change: D57G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: D57G

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136894
AA Change: D57G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: D57G

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 331 2.9e-144 PFAM
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. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit decreased peripheral blood CD8+ lymphocytes and elevated NK cells. Impaired learning/memory during trace aversive conditioning and increased exploratory behavior during open field testing is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 T A 10: 103,009,348 H274L probably damaging Het
Arl6ip4 A T 5: 124,116,927 H59L possibly damaging Het
C1ra A G 6: 124,519,835 Y410C probably damaging Het
Ceacam11 A G 7: 17,978,436 N270S probably benign Het
Cmtr1 T A 17: 29,663,293 N39K possibly damaging Het
Cmya5 T C 13: 93,097,701 D293G possibly damaging Het
Cyp2d11 T C 15: 82,390,966 E260G probably damaging Het
Dnajc13 C T 9: 104,212,869 W700* probably null Het
Efemp2 G T 19: 5,475,127 L20F probably damaging Het
Grasp T C 15: 101,230,567 V162A probably damaging Het
Hars G A 18: 36,770,503 L289F probably damaging Het
Hdlbp A G 1: 93,413,940 probably benign Het
Iqgap3 A T 3: 88,113,170 M374L probably benign Het
Lrig2 A T 3: 104,490,971 W281R probably damaging Het
Lyg2 C T 1: 37,907,646 E185K possibly damaging Het
Maml2 A G 9: 13,621,616 probably benign Het
March11 T C 15: 26,311,058 S207P probably damaging Het
Nipa2 A T 7: 55,933,457 V180E probably damaging Het
Olfr731 A T 14: 50,238,124 C254S possibly damaging Het
Pxdn T C 12: 30,002,998 I1058T probably damaging Het
Rxfp3 C A 15: 11,036,823 M154I possibly damaging Het
Slc3a1 T A 17: 85,059,823 Y479* probably null Het
Tecrl G A 5: 83,294,600 H209Y probably damaging Het
Ttll5 T C 12: 85,876,558 Y270H probably damaging Het
Usp34 A G 11: 23,432,247 E1986G possibly damaging Het
Zfp719 A G 7: 43,591,166 Y726C probably damaging Het
Zfp810 T C 9: 22,284,127 E7G probably damaging Het
Other mutations in P2rx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:P2rx5 APN 11 73167492 critical splice acceptor site probably null
IGL01860:P2rx5 APN 11 73165559 missense probably damaging 0.98
IGL02019:P2rx5 APN 11 73167977 splice site probably benign
IGL03088:P2rx5 APN 11 73165620 splice site probably benign
R0014:P2rx5 UTSW 11 73167062 splice site probably benign
R0845:P2rx5 UTSW 11 73165574 missense probably damaging 1.00
R1384:P2rx5 UTSW 11 73167890 missense probably damaging 1.00
R3415:P2rx5 UTSW 11 73160660 missense possibly damaging 0.94
R4155:P2rx5 UTSW 11 73171829 missense probably damaging 0.96
R4641:P2rx5 UTSW 11 73167564 missense possibly damaging 0.58
R4750:P2rx5 UTSW 11 73164877 missense probably damaging 1.00
R4854:P2rx5 UTSW 11 73171779 missense probably benign 0.23
R5186:P2rx5 UTSW 11 73171790 missense possibly damaging 0.68
R7003:P2rx5 UTSW 11 73167974 critical splice donor site probably null
R7141:P2rx5 UTSW 11 73160648 missense probably damaging 1.00
R7312:P2rx5 UTSW 11 73164866 missense probably damaging 1.00
X0004:P2rx5 UTSW 11 73166989 missense probably damaging 1.00
Posted On2016-08-02