Incidental Mutation 'IGL02019:P2rx5'
ID 183914
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 # IGL02019
Quality Score
Status
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 73058803 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 benign
Transcript: ENSMUST00000006104
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950

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 probably benign
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 115,017,645 (GRCm39) A178V possibly damaging Het
Acad11 A G 9: 103,992,544 (GRCm39) I495M probably damaging Het
Adgrd1 T C 5: 129,192,202 (GRCm39) S91P probably benign Het
Agk A G 6: 40,353,160 (GRCm39) I175V probably damaging Het
Ascc3 A T 10: 50,566,235 (GRCm39) N727Y probably damaging Het
Atrnl1 A T 19: 57,680,195 (GRCm39) probably benign Het
B4galt3 G A 1: 171,099,362 (GRCm39) G42D probably damaging Het
Brd10 A T 19: 29,694,463 (GRCm39) S976T probably benign Het
Brip1 C T 11: 86,088,775 (GRCm39) C42Y possibly damaging Het
Camkk1 T C 11: 72,928,027 (GRCm39) F233L probably damaging Het
Cd300ld A T 11: 114,878,227 (GRCm39) M95K probably damaging Het
Cdv3 A G 9: 103,237,224 (GRCm39) probably benign Het
Cog3 G T 14: 75,968,044 (GRCm39) Q430K possibly damaging Het
D6Wsu163e G A 6: 126,932,184 (GRCm39) G308S probably damaging Het
Dnah2 A G 11: 69,365,111 (GRCm39) M1951T probably damaging Het
Elavl3 G A 9: 21,948,014 (GRCm39) T51I probably damaging Het
Eri2 A T 7: 119,385,303 (GRCm39) C399* probably null Het
Ezh2 A T 6: 47,528,835 (GRCm39) probably null Het
Fgd6 C A 10: 93,969,216 (GRCm39) T1161K probably damaging Het
Gbf1 A T 19: 46,267,731 (GRCm39) H1193L possibly damaging Het
Gbp2b T A 3: 142,312,751 (GRCm39) F378Y possibly damaging Het
Hectd2 G A 19: 36,592,916 (GRCm39) V694M possibly damaging Het
Hook1 T A 4: 95,910,434 (GRCm39) S683T probably benign Het
Ifi202b G A 1: 173,802,550 (GRCm39) R95C possibly damaging Het
Kdm8 G T 7: 125,051,658 (GRCm39) V84L probably damaging Het
Kifc3 G A 8: 95,834,168 (GRCm39) probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrig1 G T 6: 94,593,410 (GRCm39) Q424K probably damaging Het
Lrriq1 A T 10: 103,014,661 (GRCm39) M1049K probably benign Het
Mcidas A G 13: 113,133,377 (GRCm39) N103D probably benign Het
Mdn1 T C 4: 32,749,948 (GRCm39) L4377S possibly damaging Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Mug2 G A 6: 122,024,394 (GRCm39) V489I probably benign Het
Pfas A T 11: 68,884,289 (GRCm39) probably benign Het
Pknox2 A G 9: 36,834,929 (GRCm39) L180P probably damaging Het
Psmd5 C A 2: 34,744,286 (GRCm39) C412F probably benign Het
Rbks T A 5: 31,817,361 (GRCm39) D136V probably damaging Het
Rgl1 A G 1: 152,404,220 (GRCm39) probably benign Het
Scube3 A G 17: 28,386,658 (GRCm39) D721G probably damaging Het
Snrnp200 T A 2: 127,074,825 (GRCm39) V1466D possibly damaging Het
Stambp A T 6: 83,529,013 (GRCm39) L344Q probably damaging Het
Tctn1 A T 5: 122,396,912 (GRCm39) I157N probably damaging Het
Top2b T A 14: 16,409,965 (GRCm38) D877E probably benign Het
Vmn1r78 G A 7: 11,886,634 (GRCm39) G82S probably damaging Het
Vnn1 T C 10: 23,779,449 (GRCm39) F453L possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in P2rx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:P2rx5 APN 11 73,058,318 (GRCm39) critical splice acceptor site probably null
IGL01860:P2rx5 APN 11 73,056,385 (GRCm39) missense probably damaging 0.98
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