Incidental Mutation 'IGL01860:P2rx5'
ID 178276
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: 0.066) question?
Stock # IGL01860
Quality Score
Status
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73056385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 103 (V103E)
Ref Sequence ENSEMBL: ENSMUSP00000006104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
AlphaFold Q3UYI1
Predicted Effect probably damaging
Transcript: ENSMUST00000006104
AA Change: V103E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: V103E

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

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136894
AA Change: V103E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: V103E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,914 (GRCm39) N248Y possibly damaging Het
Adamts13 G A 2: 26,868,023 (GRCm39) V128M probably damaging Het
Agl A T 3: 116,566,175 (GRCm39) probably benign Het
Arfgef1 A T 1: 10,224,621 (GRCm39) M1405K probably damaging Het
Atp6v1a G T 16: 43,920,319 (GRCm39) L426M probably damaging Het
Calhm6 A G 10: 34,002,561 (GRCm39) V174A probably damaging Het
Cdc123 A G 2: 5,808,752 (GRCm39) probably benign Het
Cept1 A G 3: 106,438,444 (GRCm39) probably benign Het
Cipc T A 12: 87,007,047 (GRCm39) D60E probably damaging Het
Efcab3 T C 11: 104,581,747 (GRCm39) S30P probably benign Het
Exosc3 A G 4: 45,319,659 (GRCm39) I121T probably benign Het
Fbln5 A G 12: 101,776,128 (GRCm39) Y89H probably damaging Het
Fhod3 T C 18: 25,030,738 (GRCm39) F128L probably damaging Het
Fhod3 T A 18: 25,037,005 (GRCm39) I154N probably damaging Het
Fpgt T C 3: 154,792,483 (GRCm39) T515A probably benign Het
Gas2l2 G A 11: 83,312,906 (GRCm39) T802I probably benign Het
Gm10710 T A 3: 83,035,156 (GRCm39) probably benign Het
Hdac4 A G 1: 91,861,417 (GRCm39) M1051T probably benign Het
Heatr5b A G 17: 79,115,909 (GRCm39) V849A probably damaging Het
Helb T C 10: 119,938,738 (GRCm39) I579V probably damaging Het
Hspa1l A G 17: 35,197,787 (GRCm39) I609V probably benign Het
Itgam C A 7: 127,670,115 (GRCm39) Q136K probably benign Het
Kcnc1 T C 7: 46,077,554 (GRCm39) L452P probably damaging Het
Ltbp4 T A 7: 27,019,071 (GRCm39) T1083S probably damaging Het
Mki67 T C 7: 135,300,686 (GRCm39) I1449M probably damaging Het
Nalf1 A T 8: 9,257,831 (GRCm39) V439E probably damaging Het
Pals1 T C 12: 78,877,681 (GRCm39) V531A possibly damaging Het
Pappa A G 4: 65,123,329 (GRCm39) D888G possibly damaging Het
Pcdhb21 G T 18: 37,647,958 (GRCm39) M362I probably benign Het
Pde1a A G 2: 79,705,628 (GRCm39) S333P probably damaging Het
Ppm1j A G 3: 104,691,408 (GRCm39) T299A probably damaging Het
Pramel46 G A 5: 95,418,510 (GRCm39) T162I probably benign Het
Ptdss2 A G 7: 140,732,749 (GRCm39) E168G probably damaging Het
Rspry1 A G 8: 95,376,444 (GRCm39) N322S probably benign Het
Slc7a9 T A 7: 35,156,485 (GRCm39) V309E probably damaging Het
Slco6c1 A G 1: 97,003,548 (GRCm39) probably benign Het
Tas2r120 T A 6: 132,634,227 (GRCm39) M103K probably damaging Het
Tbxas1 T A 6: 38,925,561 (GRCm39) F59I probably damaging Het
Tfpi A G 2: 84,274,378 (GRCm39) S203P probably benign Het
Tram2 T C 1: 21,074,083 (GRCm39) N285S possibly damaging Het
Trio T A 15: 27,846,896 (GRCm39) D980V probably damaging Het
Trpv5 T A 6: 41,637,229 (GRCm39) H419L probably damaging Het
Usp28 C T 9: 48,943,543 (GRCm39) R361* probably null Het
Vmn1r6 T A 6: 56,979,674 (GRCm39) L112* probably null Het
Vmn2r12 A T 5: 109,240,025 (GRCm39) N179K probably benign Het
Vmn2r82 G T 10: 79,214,691 (GRCm39) A225S probably benign Het
Zcchc4 A G 5: 52,965,698 (GRCm39) Y334C probably damaging Het
Zfp609 T C 9: 65,610,116 (GRCm39) E949G possibly damaging Het
Other mutations in P2rx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:P2rx5 APN 11 73,058,318 (GRCm39) critical splice acceptor site probably null
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 2014-05-07