Incidental Mutation 'IGL02019:P2rx5'
ID183914
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: 0.082) question?
Stock #IGL02019
Quality Score
Status
Chromosome11
Chromosomal Location73160421-73172685 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 73167977 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
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: 114,879,584 A178V possibly damaging Het
9930021J03Rik A T 19: 29,717,063 S976T probably benign Het
Acad11 A G 9: 104,115,345 I495M probably damaging Het
Adgrd1 T C 5: 129,115,138 S91P probably benign Het
Agk A G 6: 40,376,226 I175V probably damaging Het
Ascc3 A T 10: 50,690,139 N727Y probably damaging Het
Atrnl1 A T 19: 57,691,763 probably benign Het
B4galt3 G A 1: 171,271,792 G42D probably damaging Het
Brip1 C T 11: 86,197,949 C42Y possibly damaging Het
Camkk1 T C 11: 73,037,201 F233L probably damaging Het
Cd300ld A T 11: 114,987,401 M95K probably damaging Het
Cdv3 A G 9: 103,360,025 probably benign Het
Cog3 G T 14: 75,730,604 Q430K possibly damaging Het
D6Wsu163e G A 6: 126,955,221 G308S probably damaging Het
Dnah2 A G 11: 69,474,285 M1951T probably damaging Het
Elavl3 G A 9: 22,036,718 T51I probably damaging Het
Eri2 A T 7: 119,786,080 C399* probably null Het
Ezh2 A T 6: 47,551,901 probably null Het
Fgd6 C A 10: 94,133,354 T1161K probably damaging Het
Gbf1 A T 19: 46,279,292 H1193L possibly damaging Het
Gbp2b T A 3: 142,606,990 F378Y possibly damaging Het
Hectd2 G A 19: 36,615,516 V694M possibly damaging Het
Hook1 T A 4: 96,022,197 S683T probably benign Het
Ifi202b G A 1: 173,974,984 R95C possibly damaging Het
Kdm8 G T 7: 125,452,486 V84L probably damaging Het
Kifc3 G A 8: 95,107,540 probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrig1 G T 6: 94,616,429 Q424K probably damaging Het
Lrriq1 A T 10: 103,178,800 M1049K probably benign Het
Mcidas A G 13: 112,996,843 N103D probably benign Het
Mdn1 T C 4: 32,749,948 L4377S possibly damaging Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Mug2 G A 6: 122,047,435 V489I probably benign Het
Pfas A T 11: 68,993,463 probably benign Het
Pknox2 A G 9: 36,923,633 L180P probably damaging Het
Psmd5 C A 2: 34,854,274 C412F probably benign Het
Rbks T A 5: 31,660,017 D136V probably damaging Het
Rgl1 A G 1: 152,528,469 probably benign Het
Scube3 A G 17: 28,167,684 D721G probably damaging Het
Snrnp200 T A 2: 127,232,905 V1466D possibly damaging Het
Stambp A T 6: 83,552,031 L344Q probably damaging Het
Tctn1 A T 5: 122,258,849 I157N probably damaging Het
Top2b T A 14: 16,409,965 D877E probably benign Het
Vmn1r78 G A 7: 12,152,707 G82S probably damaging Het
Vnn1 T C 10: 23,903,551 F453L possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I 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
IGL03079:P2rx5 APN 11 73164888 missense possibly damaging 0.92
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 On2014-05-07