Incidental Mutation 'R5903:P2rx3'
ID 456428
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 044101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5903 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84828927-84867806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84831071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 265 (E265G)
Ref Sequence ENSEMBL: ENSMUSP00000107243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]
AlphaFold Q3UR32
Predicted Effect possibly damaging
Transcript: ENSMUST00000028465
AA Change: E289G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: E289G

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111613
AA Change: E287G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: E287G

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111616
AA Change: E265G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: E265G

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 91 1.2e-32 PFAM
Pfam:P2X_receptor 86 350 3.3e-113 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.8%
Validation Efficiency 98% (58/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,661 (GRCm39) V150A unknown Het
Abraxas1 T C 5: 100,965,824 (GRCm39) probably null Het
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atg2b T C 12: 105,605,618 (GRCm39) D1449G possibly damaging Het
Atg7 G A 6: 114,683,254 (GRCm39) W439* probably null Het
Atp6v0a2 T A 5: 124,789,343 (GRCm39) I370N probably damaging Het
B4galt1 T C 4: 40,807,760 (GRCm39) D347G probably damaging Het
Baz2b C T 2: 59,790,233 (GRCm39) C660Y probably damaging Het
Ccdc88c T C 12: 100,896,801 (GRCm39) Y1390C probably damaging Het
Cdcp1 G A 9: 123,002,837 (GRCm39) Q745* probably null Het
Cep97 G A 16: 55,739,889 (GRCm39) S185L probably damaging Het
Clec4d A G 6: 123,244,020 (GRCm39) H43R probably damaging Het
Cntn3 T A 6: 102,219,094 (GRCm39) M509L probably benign Het
Cntrob A C 11: 69,200,201 (GRCm39) S564R possibly damaging Het
Cyp2j8 T A 4: 96,395,514 (GRCm39) N37I possibly damaging Het
Edc4 A G 8: 106,617,219 (GRCm39) T1029A probably benign Het
Fhip2b A T 14: 70,829,121 (GRCm39) V64E probably damaging Het
Fmnl1 G T 11: 103,062,270 (GRCm39) probably null Het
Fzd6 T A 15: 38,870,783 (GRCm39) M1K probably null Het
Gle1 C A 2: 29,830,293 (GRCm39) T283N probably benign Het
Hsd17b14 T C 7: 45,215,386 (GRCm39) V161A probably damaging Het
Hsf2 T C 10: 57,380,819 (GRCm39) S218P probably benign Het
Ipo7 T A 7: 109,650,020 (GRCm39) C736S probably damaging Het
Itpkb G T 1: 180,241,540 (GRCm39) V737L probably damaging Het
Itpr1 T C 6: 108,466,758 (GRCm39) probably benign Het
Kcnh8 G T 17: 53,110,364 (GRCm39) V192L possibly damaging Het
Kctd10 G A 5: 114,518,523 (GRCm39) probably benign Het
Kdm3a C A 6: 71,609,234 (GRCm39) probably benign Het
Kif5a T A 10: 127,066,447 (GRCm39) M990L probably benign Het
Klf12 A G 14: 100,260,124 (GRCm39) S202P probably damaging Het
Krt81 T G 15: 101,358,083 (GRCm39) Q390P probably damaging Het
Lrig3 T C 10: 125,844,347 (GRCm39) S604P probably damaging Het
Ms4a1 A T 19: 11,235,612 (GRCm39) V48D probably damaging Het
Mta1 C T 12: 113,100,239 (GRCm39) P688L probably damaging Het
Oas1h T C 5: 121,009,040 (GRCm39) V250A probably damaging Het
Or10c1 A T 17: 37,521,912 (GRCm39) Y277* probably null Het
Or52z13 G T 7: 103,247,128 (GRCm39) G202* probably null Het
Pdzd8 A G 19: 59,333,718 (GRCm39) I101T possibly damaging Het
Psme4 A T 11: 30,791,589 (GRCm39) N1148I probably benign Het
Rnf213 T C 11: 119,312,195 (GRCm39) L874P probably damaging Het
Sart3 T C 5: 113,889,300 (GRCm39) Y508C probably damaging Het
Sez6l2 T C 7: 126,569,305 (GRCm39) probably benign Het
Slc9b1 C T 3: 135,098,655 (GRCm39) probably benign Het
Stmn3 T C 2: 180,950,573 (GRCm39) K78E possibly damaging Het
Thsd4 T A 9: 60,301,389 (GRCm39) N302I possibly damaging Het
Trdv5 A T 14: 54,386,242 (GRCm39) H74Q probably benign Het
Tubb4b C T 2: 25,113,993 (GRCm39) R77H probably benign Het
Ugt1a6a C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Unc5a T A 13: 55,147,503 (GRCm39) C438S possibly damaging Het
Zan C A 5: 137,440,396 (GRCm39) C1946F unknown 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
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
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'- CCTACATAGTATAGGAAGCTGATGGG -3'
(R):5'- ACGACCCAGGAATCTGCTTG -3'

Sequencing Primer
(F):5'- CTGATGGGGGATATGGCCAG -3'
(R):5'- GTTAAAATCTCCATGGTATCGGTCC -3'
Posted On 2017-02-15