Incidental Mutation 'R4897:P2rx3'
ID 375790
Institutional Source Beutler Lab
Gene Symbol P2rx3
Ensembl Gene ENSMUSG00000027071
Gene Name purinergic receptor P2X, ligand-gated ion channel, 3
Synonyms P2X3, 4930513E20Rik
MMRRC Submission 042501-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4897 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84828927-84867806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84855270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 62 (T62I)
Ref Sequence ENSEMBL: ENSMUSP00000107243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]
AlphaFold Q3UR32
Predicted Effect probably damaging
Transcript: ENSMUST00000028465
AA Change: T62I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: T62I

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111613
AA Change: T62I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: T62I

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111616
AA Change: T62I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: T62I

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
Meta Mutation Damage Score 0.8297 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,266,309 (GRCm39) M120I probably damaging Het
4933427D14Rik A T 11: 72,082,342 (GRCm39) L328Q probably damaging Het
Adgrv1 A C 13: 81,709,704 (GRCm39) probably null Het
Ankrd46 A T 15: 36,484,279 (GRCm39) probably benign Het
Arhgef18 A T 8: 3,494,979 (GRCm39) M413L probably benign Het
Atp6v1e1 G A 6: 120,781,044 (GRCm39) T87M probably null Het
Bap1 T C 14: 30,980,402 (GRCm39) probably benign Het
Brf1 A G 12: 112,929,507 (GRCm39) L385P probably benign Het
C1qtnf1 A T 11: 118,338,938 (GRCm39) N203Y probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Ccnjl A C 11: 43,470,718 (GRCm39) D162A probably damaging Het
Cd248 A C 19: 5,119,195 (GRCm39) I348L probably benign Het
Cdc20 T C 4: 118,293,029 (GRCm39) T265A probably benign Het
Cdca5 T A 19: 6,140,427 (GRCm39) L196* probably null Het
Cdk4 T A 10: 126,900,444 (GRCm39) probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Clec4b2 G T 6: 123,177,999 (GRCm39) E105* probably null Het
Dapk1 T A 13: 60,909,600 (GRCm39) D1404E probably benign Het
Dnah1 T C 14: 30,989,496 (GRCm39) Y3308C probably damaging Het
Dnah17 A C 11: 117,969,419 (GRCm39) Y2260D probably damaging Het
Dock8 T G 19: 25,159,001 (GRCm39) S1720A probably benign Het
Erc1 A G 6: 119,754,947 (GRCm39) probably null Het
Ergic1 A G 17: 26,848,597 (GRCm39) I66V probably benign Het
Fam186a T C 15: 99,843,158 (GRCm39) T1029A possibly damaging Het
Fat4 A T 3: 39,034,781 (GRCm39) Y2811F probably damaging Het
Flt3 A G 5: 147,306,110 (GRCm39) M310T probably damaging Het
Ganab T A 19: 8,892,355 (GRCm39) C844S probably benign Het
Gas2l2 C A 11: 83,320,041 (GRCm39) V72F probably damaging Het
Gm14401 T A 2: 176,778,573 (GRCm39) C220S probably damaging Het
Hmmr A T 11: 40,619,261 (GRCm39) V73E probably benign Het
Idi2l T G 13: 8,990,637 (GRCm39) probably benign Het
Ifih1 G T 2: 62,465,358 (GRCm39) probably benign Het
Jak3 A G 8: 72,138,048 (GRCm39) E833G probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Ldb1 G A 19: 46,023,132 (GRCm39) A217V probably benign Het
Lrrc8c A G 5: 105,755,955 (GRCm39) T577A probably benign Het
Mfn1 T A 3: 32,600,711 (GRCm39) probably benign Het
Mki67 G A 7: 135,298,474 (GRCm39) P2187S probably damaging Het
Mrc1 T A 2: 14,323,952 (GRCm39) D1096E probably benign Het
Msi1 A G 5: 115,573,654 (GRCm39) probably benign Het
Msto1 T A 3: 88,819,559 (GRCm39) I152F probably benign Het
Myo9a A G 9: 59,803,800 (GRCm39) R2060G probably benign Het
Nnt A T 13: 119,541,107 (GRCm39) C44* probably null Het
Nup210l A G 3: 90,100,378 (GRCm39) D1468G probably damaging Het
Or1j16 T C 2: 36,530,906 (GRCm39) L285P probably damaging Het
Or4c10b A G 2: 89,711,476 (GRCm39) E102G probably benign Het
Or5d46 C A 2: 88,174,686 (GRCm39) C129F possibly damaging Het
Or7a40 T C 16: 16,491,482 (GRCm39) D121G probably damaging Het
Pabpc4l G T 3: 46,401,578 (GRCm39) T22K probably damaging Het
Pcdha7 A G 18: 37,108,646 (GRCm39) D557G probably damaging Het
Pcdhb20 A G 18: 37,639,298 (GRCm39) K608R possibly damaging Het
Pcnx1 A G 12: 81,964,939 (GRCm39) S369G probably damaging Het
Plod1 T C 4: 148,004,736 (GRCm39) I455V probably benign Het
Prune2 A T 19: 17,099,219 (GRCm39) E1574D probably benign Het
Ptar1 T A 19: 23,680,472 (GRCm39) L96H probably damaging Het
Rabgap1 T C 2: 37,450,583 (GRCm39) S904P probably benign Het
Rps6ka4 C T 19: 6,815,467 (GRCm39) V176I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Runx1t1 T A 4: 13,771,459 (GRCm39) M1K probably null Het
Serinc4 T A 2: 121,282,905 (GRCm39) Y419F probably damaging Het
Serpina12 A T 12: 104,004,056 (GRCm39) M192K possibly damaging Het
Spata21 T A 4: 140,832,261 (GRCm39) M474K probably damaging Het
Stpg1 T C 4: 135,246,676 (GRCm39) S135P possibly damaging Het
Tdrkh A G 3: 94,336,671 (GRCm39) D481G probably damaging Het
Ube2e1 A C 14: 18,285,268 (GRCm38) S68R probably damaging Het
Vcpip1 A C 1: 9,817,572 (GRCm39) N270K probably damaging Het
Vmn2r79 T C 7: 86,650,675 (GRCm39) F154L probably benign Het
Vwa3b A G 1: 37,153,684 (GRCm39) probably benign Het
Xdh C A 17: 74,207,703 (GRCm39) V885L probably benign Het
Zfp141 A T 7: 42,125,629 (GRCm39) V281D probably benign Het
Zfp317 T A 9: 19,558,143 (GRCm39) I119N probably benign Het
Zfp345 G A 2: 150,314,608 (GRCm39) R310C probably benign Het
Zfp760 G A 17: 21,942,229 (GRCm39) C468Y 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
IGL01897:P2rx3 APN 2 84,853,825 (GRCm39) critical splice donor site 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
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
Predicted Primers PCR Primer
(F):5'- AGGCTGGTTCTTGTTTCTCAAAC -3'
(R):5'- GTGGGTTTGAAGATCCTCTGAAC -3'

Sequencing Primer
(F):5'- AACAGTACTGCTGGTTTGGGAC -3'
(R):5'- GGGTTTGAAGATCCTCTGAACTAAGC -3'
Posted On 2016-03-17