Incidental Mutation 'R1428:P2rx3'
ID 161382
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 039484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R1428 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 84828927-84867806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 84855294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 54 (T54R)
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: T54R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: T54R

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111613
AA Change: T54R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: T54R

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111616
AA Change: T54R

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: T54R

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 0.5651 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
Abl1 G T 2: 31,691,822 (GRCm39) A1114S probably damaging Het
Acbd5 T C 2: 22,989,733 (GRCm39) V452A probably damaging Het
Armc12 A G 17: 28,756,910 (GRCm39) D225G probably damaging Het
Atad3a T A 4: 155,840,139 (GRCm39) Q121H probably damaging Het
Atosa A T 9: 74,913,603 (GRCm39) T79S probably benign Het
Bptf T A 11: 106,963,873 (GRCm39) I1711F probably damaging Het
C2cd4c A T 10: 79,448,064 (GRCm39) I361N probably damaging Het
Canx A G 11: 50,199,221 (GRCm39) probably benign Het
Ccdc127 C T 13: 74,505,034 (GRCm39) T194I probably benign Het
Cdc42ep3 T C 17: 79,642,465 (GRCm39) K152E probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cnbd2 T C 2: 156,181,204 (GRCm39) probably null Het
Cplane1 T A 15: 8,248,853 (GRCm39) Y1801N possibly damaging Het
Crybg1 T C 10: 43,851,074 (GRCm39) N1599S probably benign Het
Cyc1 T C 15: 76,228,548 (GRCm39) V59A probably benign Het
Cyp2j11 T C 4: 96,183,117 (GRCm39) K484E probably benign Het
Ddx60 T C 8: 62,411,193 (GRCm39) probably benign Het
Epg5 T C 18: 78,005,642 (GRCm39) S711P probably damaging Het
Espl1 A T 15: 102,214,120 (GRCm39) Q649L probably benign Het
Eya1 G A 1: 14,374,638 (GRCm39) probably benign Het
Fat2 T A 11: 55,186,913 (GRCm39) Y1311F probably damaging Het
Garin5b T A 7: 4,760,687 (GRCm39) H675L possibly damaging Het
Gins4 T C 8: 23,717,144 (GRCm39) Y208C probably damaging Het
Gsk3b T C 16: 37,910,937 (GRCm39) V17A probably benign Het
Gykl1 A T 18: 52,827,833 (GRCm39) K347I probably benign Het
Helz T A 11: 107,483,666 (GRCm39) probably benign Het
Hivep3 C T 4: 119,953,772 (GRCm39) T696I possibly damaging Het
Ifi27l2a G T 12: 103,409,093 (GRCm39) probably benign Het
Kif13a A G 13: 46,944,987 (GRCm39) probably benign Het
Kpna3 C T 14: 61,620,669 (GRCm39) probably benign Het
Mmp15 C G 8: 96,096,190 (GRCm39) P327R probably benign Het
Mrc1 A T 2: 14,320,074 (GRCm39) T1003S probably benign Het
Mtss1 T C 15: 58,819,239 (GRCm39) D393G probably benign Het
Olfm4 T A 14: 80,258,843 (GRCm39) Y331N probably damaging Het
Or10a49 T A 7: 108,468,167 (GRCm39) N65Y probably damaging Het
Or4c12b G C 2: 89,646,725 (GRCm39) L12F probably damaging Het
Pacsin1 C T 17: 27,924,937 (GRCm39) T217I probably damaging Het
Phlpp1 A G 1: 106,308,155 (GRCm39) probably null Het
Pknox1 T C 17: 31,811,066 (GRCm39) probably benign Het
Plb1 A G 5: 32,422,256 (GRCm39) R70G possibly damaging Het
Rab3gap2 G A 1: 184,980,101 (GRCm39) A340T probably damaging Het
Rnf103 T A 6: 71,485,983 (GRCm39) W205R probably damaging Het
Rps6kc1 G A 1: 190,530,923 (GRCm39) T936M probably damaging Het
Spef2 T C 15: 9,596,793 (GRCm39) probably benign Het
Sstr4 A G 2: 148,238,279 (GRCm39) S297G probably benign Het
Timm8a1 C T X: 133,438,872 (GRCm39) E93K probably benign Het
Uck1 A C 2: 32,148,367 (GRCm39) Y150D probably damaging Het
Yipf4 A G 17: 74,805,300 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TGGTCACCATTAAAACACAGGCAGG -3'
(R):5'- CTTTTCCACATGGCACATGCTGG -3'

Sequencing Primer
(F):5'- GGAGTCTAGCTTCTTGATATCCAG -3'
(R):5'- GGGTTTGAAGATCCTCTGAACTAAG -3'
Posted On 2014-03-14