Incidental Mutation 'IGL01897:P2rx3'
ID 179445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx3
Ensembl Gene ENSMUSG00000027071
Gene Name purinergic receptor P2X, ligand-gated ion channel, 3
Synonyms P2X3, 4930513E20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01897
Quality Score
Status
Chromosome 2
Chromosomal Location 84828927-84867806 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to C at 84853825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]
AlphaFold Q3UR32
Predicted Effect probably benign
Transcript: ENSMUST00000028465
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111613
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111616
SMART Domains Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 91 1.2e-32 PFAM
Pfam:P2X_receptor 86 350 3.3e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145285
Coding Region Coverage
Validation Efficiency
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 and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show normal ventilatory responses to hypoxia. Mice homozygous for a reporter allele show loss of rapidly desensitizing ATP-gated cation currents in dorsal root ganglion neurons, reduced formalin-evoked pain behavior, and enhanced thermal hyperalgesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,346,025 (GRCm39) Y21H possibly damaging Het
Adamts15 A T 9: 30,813,448 (GRCm39) S906T probably damaging Het
Brat1 A G 5: 140,703,670 (GRCm39) D641G probably benign Het
Ccdc42 G A 11: 68,485,101 (GRCm39) R205H probably benign Het
Cdadc1 T C 14: 59,829,986 (GRCm39) probably null Het
Cfi T C 3: 129,652,034 (GRCm39) V235A probably damaging Het
Ctps1 T A 4: 120,424,476 (GRCm39) D46V probably damaging Het
Cyb5d1 A T 11: 69,284,587 (GRCm39) D188E probably benign Het
Cyp19a1 G T 9: 54,075,813 (GRCm39) T414N probably benign Het
Cyp2c40 A T 19: 39,792,217 (GRCm39) C242* probably null Het
Eif3b A T 5: 140,411,202 (GRCm39) T218S possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Heyl A T 4: 123,140,400 (GRCm39) I320F probably damaging Het
Itpr3 T A 17: 27,330,236 (GRCm39) V1618E probably damaging Het
Kif7 A T 7: 79,350,800 (GRCm39) I1007N probably damaging Het
Lat2 A G 5: 134,635,481 (GRCm39) probably benign Het
Lipm A T 19: 34,098,708 (GRCm39) D394V probably damaging Het
Lmbrd1 T A 1: 24,782,977 (GRCm39) I307K possibly damaging Het
Mief1 T C 15: 80,132,709 (GRCm39) probably benign Het
Mta2 C T 19: 8,925,130 (GRCm39) Q333* probably null Het
Neb T A 2: 52,170,587 (GRCm39) E1695V possibly damaging Het
Npc1l1 A T 11: 6,177,879 (GRCm39) N510K probably benign Het
Or5af1 T C 11: 58,722,465 (GRCm39) F162L probably damaging Het
Pdgfc A G 3: 81,111,639 (GRCm39) E198G possibly damaging Het
Pkdcc T A 17: 83,527,548 (GRCm39) I242N probably damaging Het
Pkn3 C T 2: 29,972,824 (GRCm39) probably benign Het
Rcan2 T G 17: 44,147,325 (GRCm39) D54E probably damaging Het
Tmeff2 T A 1: 51,171,369 (GRCm39) Y202N probably damaging Het
Unc13c A G 9: 73,453,309 (GRCm39) L1827P probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wfdc15a G T 2: 164,041,896 (GRCm39) Q21K probably benign Het
Zfp951 C A 5: 104,963,149 (GRCm39) S139I probably benign Het
Other mutations in P2rx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:P2rx3 APN 2 84,865,616 (GRCm39) missense probably damaging 1.00
IGL01775:P2rx3 APN 2 84,854,501 (GRCm39) missense probably benign
IGL02399:P2rx3 APN 2 84,853,571 (GRCm39) missense probably benign
R0928:P2rx3 UTSW 2 84,865,642 (GRCm39) start codon destroyed probably null 0.98
R1428:P2rx3 UTSW 2 84,855,294 (GRCm39) missense possibly damaging 0.91
R1537:P2rx3 UTSW 2 84,853,825 (GRCm39) critical splice donor site probably null
R1678:P2rx3 UTSW 2 84,852,811 (GRCm39) missense possibly damaging 0.90
R4332:P2rx3 UTSW 2 84,855,205 (GRCm39) missense probably benign 0.25
R4897:P2rx3 UTSW 2 84,855,270 (GRCm39) missense probably damaging 1.00
R5052:P2rx3 UTSW 2 84,829,368 (GRCm39) missense probably benign 0.01
R5903:P2rx3 UTSW 2 84,831,071 (GRCm39) missense possibly damaging 0.93
R5917:P2rx3 UTSW 2 84,865,591 (GRCm39) missense probably damaging 1.00
R6614:P2rx3 UTSW 2 84,865,543 (GRCm39) missense probably damaging 1.00
R8250:P2rx3 UTSW 2 84,852,735 (GRCm39) missense probably damaging 1.00
R8512:P2rx3 UTSW 2 84,854,755 (GRCm39) missense probably damaging 0.98
R8953:P2rx3 UTSW 2 84,853,842 (GRCm39) missense possibly damaging 0.61
R9237:P2rx3 UTSW 2 84,853,896 (GRCm39) missense probably benign 0.02
Z1177:P2rx3 UTSW 2 84,852,820 (GRCm39) missense probably benign 0.36
Posted On 2014-05-07