P2rx1 - SNV Details



 Gene Information 
Gene Name P2rx1
Old Gene Names for P2rx1 Ai323649 , Bb122383 , Pdcd3
Gene Description purinergic receptor P2X, ligand-gated ion channel, 1 [Source:MGI Symbol;Acc:MGI:1098235]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
response to stimulus; postsynaptic membrane; synaptic transmission
glutamatergic; membrane; cation channel activity; external side of cell outer membrane; integral to membrane; drug binding; regulation of blood pressure; purinergic nucleotide receptor signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic process; response to organic substance; response to ATP; serotonin secretion by platelet; purinergic nucleotide receptor activity; zinc ion binding; membrane raft; death; insemination; ceramide biosynthetic process; protein complex; protein binding; regulation of smooth muscle contraction; ion channel activity; platelet activation; vasoconstriction; regulation of vascular smooth muscle contraction; positive regulation of ion transport; ion transport; protein heterooligomerization; regulation of action potential in neuron; protein homooligomerization; ATP binding; neuron projection; plasma membrane; regulation of calcium ion transport; regulation of vasoconstriction; extracellular ATP-gated cation channel activity
Homolog in other species P2RX1
Omim http://omim.org/entry/600845
Immgen Expression
LOW/MEDIAN(HIGH IN MF.THIO5.II-480HI.PC)
Gnf Expression
MEDIAN(HIGH IN PANCREAS, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000020787
Chromosome 11
Coordinate 73,013,000     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.53
C:V0.48
Amino Acid Change Disrupted splicing
Sample ID IGL00976
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved