Incidental Mutation 'IGL00976:P2rx1'
ID28651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx1
Ensembl Gene ENSMUSG00000020787
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 1
SynonymsP2X1 receptor, P2x, Pdcd3, RP-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL00976
Quality Score
Status
Chromosome11
Chromosomal Location72999103-73015200 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 73013000 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000090614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021141] [ENSMUST00000092938]
Predicted Effect probably null
Transcript: ENSMUST00000021141
SMART Domains Protein: ENSMUSP00000021141
Gene: ENSMUSG00000020787

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 376 1.2e-157 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000092938
SMART Domains Protein: ENSMUSP00000090614
Gene: ENSMUSG00000020787

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180695
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in P2rx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:P2rx1 APN 11 73008215 missense probably damaging 0.99
IGL02466:P2rx1 APN 11 73009584 critical splice acceptor site probably null
IGL02524:P2rx1 APN 11 73009648 missense probably damaging 1.00
IGL02536:P2rx1 APN 11 73012474 missense probably damaging 1.00
PIT4382001:P2rx1 UTSW 11 73009200 missense probably benign 0.09
R0479:P2rx1 UTSW 11 73012961 missense probably damaging 1.00
R1238:P2rx1 UTSW 11 73012958 missense probably damaging 1.00
R2156:P2rx1 UTSW 11 73014113 missense probably benign 0.15
R4016:P2rx1 UTSW 11 73009973 missense probably damaging 1.00
R5345:P2rx1 UTSW 11 73009230 missense probably damaging 1.00
R5440:P2rx1 UTSW 11 73008503 missense probably benign
R6172:P2rx1 UTSW 11 73010030 missense probably damaging 0.99
R6285:P2rx1 UTSW 11 73008148 missense probably benign 0.22
R6348:P2rx1 UTSW 11 72999322 missense probably benign
Posted On2013-04-17