Incidental Mutation 'R7312:P2rx5'
ID 567685
Institutional Source Beutler Lab
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Name purinergic receptor P2X, ligand-gated ion channel, 5
Synonyms P2X5
MMRRC Submission 045410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7312 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73051247-73063511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73055692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 50 (L50M)
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: L50M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950
AA Change: L50M

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135202
AA Change: L50M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950
AA Change: L50M

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136894
AA Change: L50M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950
AA Change: L50M

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 331 2.9e-144 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,969,021 (GRCm39) S215P probably benign Het
Ano2 C T 6: 126,016,460 (GRCm39) Q998* probably null Het
Atg9a A T 1: 75,164,736 (GRCm39) V76E probably damaging Het
Cacna1c T C 6: 119,034,172 (GRCm39) I118M Het
Cacna1g T A 11: 94,323,383 (GRCm39) I1274F probably damaging Het
Cd300lg C T 11: 101,937,767 (GRCm39) A199V probably benign Het
Cfap61 C T 2: 145,887,390 (GRCm39) R612* probably null Het
Cpeb4 A T 11: 31,881,417 (GRCm39) Y692F probably damaging Het
Dcun1d1 A G 3: 35,951,940 (GRCm39) probably null Het
Dennd2d T A 3: 106,398,579 (GRCm39) M188K probably benign Het
Dmgdh A G 13: 93,845,354 (GRCm39) probably null Het
Efl1 T A 7: 82,330,652 (GRCm39) M275K probably benign Het
Erp29 G T 5: 121,583,392 (GRCm39) A178D probably benign Het
Fbn1 T C 2: 125,308,594 (GRCm39) N156S possibly damaging Het
Frrs1 C T 3: 116,675,426 (GRCm39) T118I probably damaging Het
Frrs1l A G 4: 56,968,230 (GRCm39) W181R probably benign Het
Gprc5b C A 7: 118,583,482 (GRCm39) W129L probably damaging Het
Hoxc9 A G 15: 102,890,593 (GRCm39) H170R probably benign Het
Il12rb2 C T 6: 67,333,617 (GRCm39) D221N probably benign Het
Lmo1 T C 7: 108,742,819 (GRCm39) N28S probably benign Het
Lrrfip2 T A 9: 111,006,525 (GRCm39) probably null Het
Macf1 A T 4: 123,400,130 (GRCm39) F722I probably damaging Het
Mical1 T C 10: 41,355,772 (GRCm39) probably null Het
Mtcl3 A G 10: 29,073,240 (GRCm39) Y844C probably damaging Het
Mtmr11 C T 3: 96,071,855 (GRCm39) T223M possibly damaging Het
Mup21 A G 4: 62,068,468 (GRCm39) V66A probably benign Het
Nav2 C A 7: 49,111,672 (GRCm39) A726D possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nudt21 A T 8: 94,746,227 (GRCm39) V157D probably benign Het
Numa1 T C 7: 101,639,806 (GRCm39) I52T possibly damaging Het
Obscn T C 11: 58,946,442 (GRCm39) D4421G probably benign Het
Oog3 T C 4: 143,886,801 (GRCm39) I106M probably benign Het
Or10g9 A T 9: 39,912,106 (GRCm39) V139E probably benign Het
Or2g25 T C 17: 37,970,403 (GRCm39) T274A possibly damaging Het
Or2z9 T C 8: 72,853,793 (GRCm39) L63P probably damaging Het
Or51f1 T A 7: 102,505,706 (GRCm39) Y261F probably damaging Het
Or5w20 T G 2: 87,726,755 (GRCm39) C71G possibly damaging Het
Orai2 T A 5: 136,179,437 (GRCm39) I199F probably damaging Het
Pdia2 T C 17: 26,416,634 (GRCm39) E215G possibly damaging Het
Pds5a A T 5: 65,823,570 (GRCm39) S74T possibly damaging Het
Phlpp2 A G 8: 110,666,785 (GRCm39) S1105G probably damaging Het
Pi4kb T A 3: 94,891,888 (GRCm39) D189E probably benign Het
Pigw G A 11: 84,768,585 (GRCm39) T248M probably damaging Het
Pnlip T A 19: 58,670,134 (GRCm39) V458D probably damaging Het
Ppm1l G A 3: 69,225,044 (GRCm39) V49I probably benign Het
Prl3b1 T A 13: 27,426,473 (GRCm39) M1K probably null Het
Rad1 T A 15: 10,493,367 (GRCm39) C265S probably benign Het
Rnaset2b C T 17: 7,265,427 (GRCm39) S237F probably benign Het
Rtl1 C T 12: 109,561,672 (GRCm39) A56T unknown Het
S1pr2 T C 9: 20,879,238 (GRCm39) I197V probably benign Het
Smyd4 A G 11: 75,281,082 (GRCm39) Q185R probably benign Het
Sox5 T A 6: 144,100,759 (GRCm39) T77S probably benign Het
Sox7 A G 14: 64,185,291 (GRCm39) Y109C probably damaging Het
Styxl2 C T 1: 165,954,676 (GRCm39) V25I probably damaging Het
Tln1 G A 4: 43,545,922 (GRCm39) R898C probably damaging Het
Tmprss11b T A 5: 86,812,173 (GRCm39) E158V probably damaging Het
Tnpo3 C A 6: 29,562,875 (GRCm39) R614L possibly damaging Het
Vmn2r100 T A 17: 19,742,296 (GRCm39) D223E probably benign Het
Zc3h12d A T 10: 7,743,345 (GRCm39) M372L probably benign Het
Zfp28 G T 7: 6,386,593 (GRCm39) probably benign Het
Zfp963 A T 8: 70,195,759 (GRCm39) H231Q probably damaging Het
Zscan4b A G 7: 10,634,867 (GRCm39) S459P probably benign 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
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'- ACAGTCTACTTTCCAGCTTTAGCAC -3'
(R):5'- TGATGCAGTTCTCTGGGCAC -3'

Sequencing Primer
(F):5'- GCTTTAGCACACTGACTGCAG -3'
(R):5'- GGGCACTTCCTATGTGACC -3'
Posted On 2019-06-26