Incidental Mutation 'R9759:P2rx5'
ID 732908
Institutional Source Beutler Lab
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Name purinergic receptor P2X, ligand-gated ion channel, 5
Synonyms P2X5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R9759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73058341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 259 (I259F)
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: I259F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: I259F

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135202
AA Change: I235F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: I235F

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136894
AA Change: I259F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: I259F

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 331 2.9e-144 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G T 13: 119,615,989 (GRCm39) W508L probably damaging Het
Abt1 G T 13: 23,606,439 (GRCm39) Q172K probably damaging Het
Aoah C A 13: 21,000,738 (GRCm39) H57Q probably damaging Het
Cpxm2 T C 7: 131,756,242 (GRCm39) E34G probably benign Het
Ddx25 C T 9: 35,457,265 (GRCm39) R350Q probably benign Het
Dnah9 G A 11: 65,965,944 (GRCm39) H1691Y probably null Het
Doc2g A T 19: 4,056,571 (GRCm39) H319L probably benign Het
Enah A C 1: 181,841,911 (GRCm39) V6G unknown Het
Fam135b T G 15: 71,335,689 (GRCm39) T502P probably benign Het
Frem2 A G 3: 53,562,918 (GRCm39) S530P possibly damaging Het
Gm19410 A G 8: 36,252,938 (GRCm39) R628G possibly damaging Het
Hdac7 T C 15: 97,699,989 (GRCm39) T614A probably benign Het
Ift88 T A 14: 57,672,256 (GRCm39) L32* probably null Het
Insm2 C T 12: 55,647,390 (GRCm39) T378M possibly damaging Het
Kctd3 G A 1: 188,710,786 (GRCm39) T459M probably damaging Het
Khsrp A G 17: 57,332,925 (GRCm39) L188P probably benign Het
Kynu A G 2: 43,569,881 (GRCm39) I388V probably benign Het
Met T C 6: 17,555,561 (GRCm39) V1090A probably damaging Het
Mier1 C T 4: 103,019,725 (GRCm39) T483I probably benign Het
Mthfsd A G 8: 121,824,615 (GRCm39) S297P probably benign Het
Pax3 A G 1: 78,170,415 (GRCm39) L138P probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Rbm12 A T 2: 155,938,546 (GRCm39) H575Q probably benign Het
Scube1 C T 15: 83,492,465 (GRCm39) R953H probably benign Het
Sirt1 A G 10: 63,156,516 (GRCm39) S705P probably benign Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc46a3 T C 5: 147,823,234 (GRCm39) T203A probably benign Het
Snta1 G T 2: 154,222,889 (GRCm39) T278K probably benign Het
Stac3 A G 10: 127,344,083 (GRCm39) D327G possibly damaging Het
Timm44 C A 8: 4,317,707 (GRCm39) E205* probably null Het
Timm8a2 A T 14: 122,272,216 (GRCm39) T40S probably damaging Het
Vmn2r116 A G 17: 23,620,360 (GRCm39) N698S possibly damaging Het
Zik1 A C 7: 10,223,716 (GRCm39) C460W possibly damaging Het
Zmynd8 A C 2: 165,680,746 (GRCm39) I229S 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
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
X0004:P2rx5 UTSW 11 73,057,815 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGCCCGCTAGGTTGTTTTC -3'
(R):5'- TGGACTTGACCCAGCAAAGG -3'

Sequencing Primer
(F):5'- TCTGATCCCAGGGCATCAC -3'
(R):5'- TTGACCCAGCAAAGGATACAG -3'
Posted On 2022-11-14