Incidental Mutation 'R5345:P2rx1'
ID 422571
Institutional Source Beutler Lab
Gene Symbol P2rx1
Ensembl Gene ENSMUSG00000020787
Gene Name purinergic receptor P2X, ligand-gated ion channel, 1
Synonyms RP-2, P2x, Pdcd3, P2X1 receptor
MMRRC Submission 042924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5345 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72889929-72906026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72900056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 158 (T158A)
Ref Sequence ENSEMBL: ENSMUSP00000090614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021141] [ENSMUST00000092938]
AlphaFold P51576
Predicted Effect probably damaging
Transcript: ENSMUST00000021141
AA Change: T158A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: T158A

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 376 1.2e-157 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092938
AA Change: T158A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: T158A

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 182 1.1e-71 PFAM
Pfam:P2X_receptor 171 355 2.1e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148964
Meta Mutation Damage Score 0.4392 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,687,059 (GRCm39) S519T probably damaging Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acot1 T A 12: 84,063,942 (GRCm39) I350N probably damaging Het
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Ankar A G 1: 72,709,310 (GRCm39) M735T possibly damaging Het
Cacna1c A G 6: 118,633,497 (GRCm39) probably null Het
Cdc25b A G 2: 131,034,516 (GRCm39) S222G probably benign Het
Celsr3 T C 9: 108,709,323 (GRCm39) S1390P probably damaging Het
Clca4a T G 3: 144,676,222 (GRCm39) D104A probably damaging Het
Clcn6 A T 4: 148,123,206 (GRCm39) probably benign Het
Coq8b A G 7: 26,949,773 (GRCm39) T320A probably benign Het
Cspg5 A T 9: 110,075,698 (GRCm39) M145L probably benign Het
Cyp2c67 T A 19: 39,614,676 (GRCm39) I284F probably benign Het
Eya4 T C 10: 22,985,947 (GRCm39) I565V probably benign Het
Fbxw11 A G 11: 32,688,471 (GRCm39) N410S probably damaging Het
Gabrb2 C T 11: 42,517,636 (GRCm39) A448V possibly damaging Het
Hectd4 A G 5: 121,402,037 (GRCm39) D375G possibly damaging Het
Itsn2 T C 12: 4,722,783 (GRCm39) V1073A probably damaging Het
Kif5c A G 2: 49,613,078 (GRCm39) T139A probably benign Het
L1td1 G A 4: 98,624,684 (GRCm39) G293D probably damaging Het
Lama1 A G 17: 68,124,558 (GRCm39) M2873V probably benign Het
Msantd5f6 A T 4: 73,319,514 (GRCm39) W77R probably damaging Het
Myo15a A G 11: 60,388,364 (GRCm39) R1960G probably damaging Het
Nbeal1 T C 1: 60,367,369 (GRCm39) probably null Het
Ndufb4 A G 16: 37,474,540 (GRCm39) probably null Het
Nup153 A T 13: 46,840,341 (GRCm39) L1089* probably null Het
Or10g3 G A 14: 52,609,725 (GRCm39) R262* probably null Het
Or2l13b T A 16: 19,349,527 (GRCm39) I48F probably damaging Het
Or5aq1b A G 2: 86,901,836 (GRCm39) V214A possibly damaging Het
Park7 A G 4: 150,992,880 (GRCm39) probably benign Het
Parl A T 16: 20,116,892 (GRCm39) F102I probably damaging Het
Plxnc1 T A 10: 94,685,831 (GRCm39) H720L probably benign Het
Ptpn4 A G 1: 119,693,207 (GRCm39) S140P probably benign Het
Rel A G 11: 23,692,462 (GRCm39) S524P probably benign Het
Ripply2 A G 9: 86,901,779 (GRCm39) probably null Het
Rmc1 C T 18: 12,312,234 (GRCm39) T158M probably benign Het
Rps4l-ps T C 7: 114,526,433 (GRCm39) noncoding transcript Het
Rtn4ip1 T C 10: 43,808,466 (GRCm39) L81P probably damaging Het
Sap130 T C 18: 31,781,251 (GRCm39) L138P probably benign Het
Scp2 A T 4: 107,912,776 (GRCm39) probably null Het
Sec24c T A 14: 20,743,288 (GRCm39) M970K probably benign Het
Setd5 C T 6: 113,092,968 (GRCm39) P340L probably damaging Het
Sgcg A T 14: 61,483,218 (GRCm39) M61K probably damaging Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Slc34a1 A G 13: 55,548,331 (GRCm39) R21G probably benign Het
Slc7a14 A C 3: 31,278,006 (GRCm39) L533W probably damaging Het
Srsf9 A G 5: 115,468,595 (GRCm39) D77G probably benign Het
Tab1 A T 15: 80,034,014 (GRCm39) E119V possibly damaging Het
Tcstv5 A T 13: 120,411,384 (GRCm39) V74E probably damaging Het
Tnrc6c C T 11: 117,614,113 (GRCm39) A757V possibly damaging Het
Tradd A T 8: 105,986,556 (GRCm39) I72N probably damaging Het
Trbv12-1 C T 6: 41,090,781 (GRCm39) T51M probably benign Het
Tsga10 T C 1: 37,802,392 (GRCm39) K605E probably damaging Het
Vwc2l A G 1: 70,768,077 (GRCm39) D47G probably damaging Het
Zfp647 T A 15: 76,795,695 (GRCm39) T322S possibly damaging Het
Zscan20 A C 4: 128,481,914 (GRCm39) S583A probably benign Het
Other mutations in P2rx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:P2rx1 APN 11 72,903,826 (GRCm39) critical splice donor site probably null
IGL01109:P2rx1 APN 11 72,899,041 (GRCm39) missense probably damaging 0.99
IGL02466:P2rx1 APN 11 72,900,410 (GRCm39) critical splice acceptor site probably null
IGL02524:P2rx1 APN 11 72,900,474 (GRCm39) missense probably damaging 1.00
IGL02536:P2rx1 APN 11 72,903,300 (GRCm39) missense probably damaging 1.00
PIT4382001:P2rx1 UTSW 11 72,900,026 (GRCm39) missense probably benign 0.09
R0479:P2rx1 UTSW 11 72,903,787 (GRCm39) missense probably damaging 1.00
R1238:P2rx1 UTSW 11 72,903,784 (GRCm39) missense probably damaging 1.00
R2156:P2rx1 UTSW 11 72,904,939 (GRCm39) missense probably benign 0.15
R4016:P2rx1 UTSW 11 72,900,799 (GRCm39) missense probably damaging 1.00
R5440:P2rx1 UTSW 11 72,899,329 (GRCm39) missense probably benign
R6172:P2rx1 UTSW 11 72,900,856 (GRCm39) missense probably damaging 0.99
R6285:P2rx1 UTSW 11 72,898,974 (GRCm39) missense probably benign 0.22
R6348:P2rx1 UTSW 11 72,890,148 (GRCm39) missense probably benign
R7793:P2rx1 UTSW 11 72,900,079 (GRCm39) nonsense probably null
R8402:P2rx1 UTSW 11 72,904,715 (GRCm39) missense probably damaging 1.00
R8520:P2rx1 UTSW 11 72,899,779 (GRCm39) missense probably benign 0.10
R8723:P2rx1 UTSW 11 72,899,756 (GRCm39) missense probably benign 0.05
R8857:P2rx1 UTSW 11 72,903,197 (GRCm39) intron probably benign
R8903:P2rx1 UTSW 11 72,900,821 (GRCm39) missense probably benign 0.03
R8965:P2rx1 UTSW 11 72,900,051 (GRCm39) missense probably benign 0.00
R9007:P2rx1 UTSW 11 72,900,059 (GRCm39) missense probably damaging 0.96
Z1177:P2rx1 UTSW 11 72,904,725 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACTCCAGGAAAAGCAG -3'
(R):5'- GACTCTTGGGCCACATGGATAG -3'

Sequencing Primer
(F):5'- TAAGAGCAGCCCCTTCCTG -3'
(R):5'- GCCACATGGATAGGCTGAG -3'
Posted On 2016-08-04