Incidental Mutation 'R1384:P2rx5'
ID 163176
Institutional Source Beutler Lab
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Name purinergic receptor P2X, ligand-gated ion channel, 5
Synonyms P2X5
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1384 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73058716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 300 (Y300C)
Ref Sequence ENSEMBL: ENSMUSP00000121834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
AlphaFold Q3UYI1
Predicted Effect probably damaging
Transcript: ENSMUST00000006104
AA Change: Y300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: Y300C

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135202
AA Change: Y276C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: Y276C

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136894
AA Change: Y300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: Y300C

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 331 2.9e-144 PFAM
Meta Mutation Damage Score 0.9577 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cpt1c G A 7: 44,610,348 (GRCm39) probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Filip1l A G 16: 57,391,652 (GRCm39) K509E possibly damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Men1 T C 19: 6,389,921 (GRCm39) S464P probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tbx2 A G 11: 85,724,318 (GRCm39) K129R probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGACCTTGATAAAGCTGCCTCCC -3'
(R):5'- TTTCCCGCCTGTGAGACAGAAAC -3'

Sequencing Primer
(F):5'- TTGCTGGGTCAAGTCCAC -3'
(R):5'- CCTGTGAGACAGAAACAGACG -3'
Posted On 2014-03-17