Incidental Mutation 'PIT4382001:P2rx1'
ID 554702
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # PIT4382001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72889929-72906026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72900026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 148 (N148D)
Ref Sequence ENSEMBL: ENSMUSP00000021141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021141] [ENSMUST00000092938]
AlphaFold P51576
Predicted Effect probably benign
Transcript: ENSMUST00000021141
AA Change: N148D

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787
AA Change: N148D

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 376 1.2e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092938
AA Change: N148D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787
AA Change: N148D

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 182 1.1e-71 PFAM
Pfam:P2X_receptor 171 355 2.1e-76 PFAM
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.5%
  • 10x: 84.6%
  • 20x: 72.3%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik G T 7: 136,978,711 (GRCm39) H144N unknown Het
Acsm4 C T 7: 119,297,798 (GRCm39) T145M probably damaging Het
Adam10 T C 9: 70,673,363 (GRCm39) L498P probably damaging Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Alk T C 17: 72,256,916 (GRCm39) M648V probably benign Het
Arhgap35 T C 7: 16,297,794 (GRCm39) R424G possibly damaging Het
Baiap2l1 T C 5: 144,215,480 (GRCm39) K342E possibly damaging Het
Ccdc54 C T 16: 50,411,219 (GRCm39) V16M probably damaging Het
Chil3 T G 3: 106,055,975 (GRCm39) D366A probably damaging Het
Chuk A G 19: 44,087,046 (GRCm39) V151A probably damaging Het
Cpd T G 11: 76,688,614 (GRCm39) H886P probably benign Het
Cped1 T A 6: 22,222,449 (GRCm39) C736* probably null Het
Creb3l3 T C 10: 80,920,746 (GRCm39) E428G probably benign Het
Csad G A 15: 102,097,085 (GRCm39) L7F probably benign Het
Dnah1 C T 14: 31,006,412 (GRCm39) D2255N probably damaging Het
Dnajb12 T C 10: 59,728,508 (GRCm39) Y159H probably damaging Het
Dpysl4 T A 7: 138,669,494 (GRCm39) Y57* probably null Het
F2rl1 T G 13: 95,650,154 (GRCm39) N243H probably benign Het
Fhl4 T C 10: 84,934,293 (GRCm39) K163E possibly damaging Het
Flot2 T C 11: 77,944,193 (GRCm39) S46P possibly damaging Het
Fsip2 C A 2: 82,821,196 (GRCm39) T5643K possibly damaging Het
Golga4 T A 9: 118,382,521 (GRCm39) Y542N possibly damaging Het
Il17re A G 6: 113,446,038 (GRCm39) T426A probably benign Het
Kdm2a T A 19: 4,393,201 (GRCm39) M385L probably benign Het
Kdm3b T C 18: 34,942,140 (GRCm39) S744P probably damaging Het
Krtap20-1 T A 16: 88,881,048 (GRCm39) Y26* probably null Het
Lama2 T C 10: 27,080,901 (GRCm39) D974G probably damaging Het
Ldc1 A T 4: 130,112,954 (GRCm39) N147K possibly damaging Het
Lipo5 A T 19: 33,443,339 (GRCm39) L159Q probably null Het
LTO1 T A 7: 144,470,181 (GRCm39) Y37N probably damaging Het
Mau2 C T 8: 70,483,302 (GRCm39) E187K possibly damaging Het
Mrpl9 T C 3: 94,355,136 (GRCm39) L236P probably benign Het
Mta1 A G 12: 113,096,870 (GRCm39) T564A probably benign Het
Mylk C T 16: 34,696,012 (GRCm39) S249L probably damaging Het
Ncor1 G T 11: 62,235,489 (GRCm39) T331K probably damaging Het
Nsun3 T A 16: 62,606,228 (GRCm39) K15N probably damaging Het
Nsun5 A G 5: 135,400,355 (GRCm39) Y132C probably benign Het
Obsl1 T A 1: 75,464,607 (GRCm39) T1605S probably benign Het
Or10a3n A G 7: 108,493,309 (GRCm39) Y107H probably damaging Het
Or51f1 A G 7: 102,505,809 (GRCm39) Y227H probably damaging Het
Or51t4 A T 7: 102,598,656 (GRCm39) Y328F probably benign Het
Or5b109 T C 19: 13,212,259 (GRCm39) I215T probably damaging Het
Pogz T A 3: 94,787,107 (GRCm39) S1232T probably damaging Het
Polr3b C A 10: 84,520,049 (GRCm39) T655N probably damaging Het
Prss34 T C 17: 25,517,882 (GRCm39) probably null Het
Rhpn2 A G 7: 35,090,178 (GRCm39) probably null Het
Runx1 T A 16: 92,410,648 (GRCm39) D256V probably damaging Het
Shc1 C A 3: 89,334,715 (GRCm39) Q525K probably benign Het
Slc10a5 T C 3: 10,400,507 (GRCm39) D51G probably benign Het
Slc6a3 A T 13: 73,719,642 (GRCm39) N557I probably benign Het
Slmap C T 14: 26,254,586 (GRCm39) R32H probably damaging Het
Spata31d1c T C 13: 65,183,985 (GRCm39) I509T probably benign Het
Spata31e4 A T 13: 50,855,007 (GRCm39) E215V probably damaging Het
Srr C A 11: 74,801,134 (GRCm39) V138F probably benign Het
Tas2r118 G A 6: 23,969,785 (GRCm39) T92I possibly damaging Het
Tcaf2 A T 6: 42,601,300 (GRCm39) *920K probably null Het
Tenm2 T A 11: 35,954,729 (GRCm39) Y1141F probably damaging Het
Thoc6 T C 17: 23,887,841 (GRCm39) N322S probably benign Het
Tlcd2 A G 11: 75,359,417 (GRCm39) I70V probably benign Het
Tmem214 A G 5: 31,028,795 (GRCm39) D128G possibly damaging Het
Trav13d-4 T C 14: 53,995,238 (GRCm39) V64A probably benign Het
Tyro3 T C 2: 119,632,845 (GRCm39) W122R probably damaging Het
Ugcg A G 4: 59,213,246 (GRCm39) D144G possibly damaging Het
Uimc1 T C 13: 55,178,828 (GRCm39) D627G probably benign Het
Utp6 T C 11: 79,853,099 (GRCm39) I13V probably benign Het
Vmn2r99 A G 17: 19,614,605 (GRCm39) K775R probably damaging Het
Wdfy3 CG C 5: 102,030,827 (GRCm39) probably null Het
Zw10 C T 9: 48,982,944 (GRCm39) T525I 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
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
R5345:P2rx1 UTSW 11 72,900,056 (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'- AAGGTAAGAGCAGCCCCTTC -3'
(R):5'- ACTCTTGGGCCACATGGATAGG -3'

Sequencing Primer
(F):5'- GTAAGAGCAGCCCCTTCCTGTC -3'
(R):5'- GCCACATGGATAGGCTGAG -3'
Posted On 2019-06-07