Incidental Mutation 'IGL00337:P2rx5'
ID 4549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Name purinergic receptor P2X, ligand-gated ion channel, 5
Synonyms P2X5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL00337
Quality Score
Status
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 73058318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
AlphaFold Q3UYI1
Predicted Effect probably null
Transcript: ENSMUST00000006104
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135202
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000136894
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A T 3: 127,614,401 (GRCm39) probably benign Het
Ap1ar A C 3: 127,614,400 (GRCm39) probably benign Het
Apip A T 2: 102,922,257 (GRCm39) T208S probably benign Het
Arhgap11a A G 2: 113,672,287 (GRCm39) V227A probably damaging Het
Atrn G T 2: 130,799,999 (GRCm39) V459F probably damaging Het
Cep295 T C 9: 15,237,368 (GRCm39) probably null Het
Cfhr1 A G 1: 139,484,253 (GRCm39) probably benign Het
D5Ertd615e A G 5: 45,320,769 (GRCm39) noncoding transcript Het
Dhx29 A G 13: 113,101,137 (GRCm39) I1227V probably benign Het
Fam98a T C 17: 75,858,742 (GRCm39) D16G probably damaging Het
Frk A G 10: 34,360,239 (GRCm39) D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 (GRCm39) H354Q probably damaging Het
Ggps1 G A 13: 14,228,973 (GRCm39) S70L probably damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpx T C 7: 105,240,977 (GRCm39) Y432C probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Il10rb G A 16: 91,203,227 (GRCm39) A8T probably benign Het
Ing5 G T 1: 93,733,816 (GRCm39) M1I probably null Het
Kcnc4 C T 3: 107,355,189 (GRCm39) D420N probably benign Het
Kcnj8 T C 6: 142,515,961 (GRCm39) N49D probably damaging Het
Kif26b C A 1: 178,743,213 (GRCm39) A656D probably damaging Het
Klc4 T C 17: 46,946,361 (GRCm39) E488G probably damaging Het
Mtmr4 C T 11: 87,502,750 (GRCm39) H878Y probably benign Het
Ndufaf7 T C 17: 79,254,520 (GRCm39) probably benign Het
Nlrp14 T G 7: 106,781,308 (GRCm39) D168E possibly damaging Het
Ogdhl T C 14: 32,055,669 (GRCm39) F251S probably damaging Het
Or1p1 T C 11: 74,180,213 (GRCm39) V247A probably damaging Het
Parp14 G A 16: 35,661,445 (GRCm39) T1501I probably benign Het
Prl3c1 C A 13: 27,384,746 (GRCm39) T85K probably damaging Het
Psg27 A G 7: 18,295,729 (GRCm39) Y239H probably damaging Het
Pzp T C 6: 128,493,872 (GRCm39) R300G probably benign Het
Sec16a A G 2: 26,329,499 (GRCm39) S839P probably benign Het
Sphkap T A 1: 83,317,329 (GRCm39) D56V probably damaging Het
Srrt C T 5: 137,294,240 (GRCm39) probably benign Het
Sstr3 T A 15: 78,424,667 (GRCm39) T27S probably benign Het
Taf1d C A 9: 15,222,899 (GRCm39) S255Y probably damaging Het
Tbc1d15 C A 10: 115,045,546 (GRCm39) E473* probably null Het
Tmem247 T C 17: 87,224,963 (GRCm39) V24A probably benign Het
Txnrd2 T C 16: 18,296,519 (GRCm39) C494R probably damaging Het
Zfp180 A G 7: 23,784,894 (GRCm39) D5G probably damaging Het
Other mutations in P2rx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:P2rx5 APN 11 73,056,385 (GRCm39) missense probably damaging 0.98
IGL02019:P2rx5 APN 11 73,058,803 (GRCm39) splice site probably benign
IGL03079:P2rx5 APN 11 73,055,714 (GRCm39) missense possibly damaging 0.92
IGL03088:P2rx5 APN 11 73,056,446 (GRCm39) splice site probably benign
R0014:P2rx5 UTSW 11 73,057,888 (GRCm39) splice site probably benign
R0845:P2rx5 UTSW 11 73,056,400 (GRCm39) missense probably damaging 1.00
R1384:P2rx5 UTSW 11 73,058,716 (GRCm39) missense probably damaging 1.00
R3415:P2rx5 UTSW 11 73,051,486 (GRCm39) missense possibly damaging 0.94
R4155:P2rx5 UTSW 11 73,062,655 (GRCm39) missense probably damaging 0.96
R4641:P2rx5 UTSW 11 73,058,390 (GRCm39) missense possibly damaging 0.58
R4750:P2rx5 UTSW 11 73,055,703 (GRCm39) missense probably damaging 1.00
R4854:P2rx5 UTSW 11 73,062,605 (GRCm39) missense probably benign 0.23
R5186:P2rx5 UTSW 11 73,062,616 (GRCm39) missense possibly damaging 0.68
R7003:P2rx5 UTSW 11 73,058,800 (GRCm39) critical splice donor site probably null
R7141:P2rx5 UTSW 11 73,051,474 (GRCm39) missense probably damaging 1.00
R7312:P2rx5 UTSW 11 73,055,692 (GRCm39) missense probably damaging 1.00
R9221:P2rx5 UTSW 11 73,062,655 (GRCm39) missense probably damaging 0.99
R9488:P2rx5 UTSW 11 73,056,427 (GRCm39) missense
R9759:P2rx5 UTSW 11 73,058,341 (GRCm39) missense probably damaging 1.00
X0004:P2rx5 UTSW 11 73,057,815 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20