Incidental Mutation 'R8512:P2rx3'
ID 655917
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 067846-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R8512 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84828927-84867806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84854755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 100 (E100K)
Ref Sequence ENSEMBL: ENSMUSP00000028465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]
AlphaFold Q3UR32
Predicted Effect probably damaging
Transcript: ENSMUST00000028465
AA Change: E100K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: E100K

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111613
AA Change: E100K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: E100K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,125,760 (GRCm39) probably null Het
Akap13 T C 7: 75,260,834 (GRCm39) S350P probably damaging Het
Celsr2 A G 3: 108,321,154 (GRCm39) F553L probably damaging Het
Ces3a A T 8: 105,784,661 (GRCm39) T548S probably benign Het
Chtf8 G A 8: 107,612,066 (GRCm39) T291I probably benign Het
Ckmt1 A T 2: 121,191,689 (GRCm39) R286S probably damaging Het
Dnajb2 C T 1: 75,218,075 (GRCm39) R191W Het
Dtnbp1 G T 13: 45,075,867 (GRCm39) A292E probably benign Het
Esrrg T G 1: 187,775,777 (GRCm39) Y101* probably null Het
Etaa1 G A 11: 17,897,442 (GRCm39) S225L probably damaging Het
Evi5l A G 8: 4,243,121 (GRCm39) Y335C probably benign Het
Fcho2 T C 13: 98,891,730 (GRCm39) D344G possibly damaging Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gsdmc2 C T 15: 63,706,864 (GRCm39) V101I probably null Het
Gsdmc4 A G 15: 63,763,808 (GRCm39) C430R probably damaging Het
Irak4 A C 15: 94,464,659 (GRCm39) I410L probably benign Het
Kirrel1 A G 3: 86,995,534 (GRCm39) V436A probably benign Het
Lrrc30 T A 17: 67,938,947 (GRCm39) Q211L probably damaging Het
Map4k1 C T 7: 28,695,583 (GRCm39) H512Y possibly damaging Het
Matn3 T A 12: 9,011,183 (GRCm39) S365T probably benign Het
Msantd2 T C 9: 37,434,231 (GRCm39) I358T possibly damaging Het
Msantd5 T A 11: 51,125,487 (GRCm39) S137T probably benign Het
Msx3 G T 7: 139,628,884 (GRCm39) A10E probably benign Het
Muc16 T C 9: 18,549,488 (GRCm39) T5602A probably benign Het
Myh2 T C 11: 67,081,187 (GRCm39) S1268P probably benign Het
Mynn C T 3: 30,670,798 (GRCm39) P557S probably damaging Het
Naglu T C 11: 100,961,168 (GRCm39) V73A probably benign Het
Ncor1 AGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTG 11: 62,324,437 (GRCm39) probably benign Het
Or10al3 T A 17: 38,012,071 (GRCm39) F170Y probably damaging Het
Or6c75 T A 10: 129,337,496 (GRCm39) S240T probably damaging Het
Pnisr C T 4: 21,870,372 (GRCm39) Q375* probably null Het
Psmb9 C T 17: 34,402,602 (GRCm39) C126Y probably benign Het
Ptprt A G 2: 161,400,783 (GRCm39) F1085L probably benign Het
Rev3l A G 10: 39,697,534 (GRCm39) Y677C probably damaging Het
Rftn2 G A 1: 55,253,324 (GRCm39) P93L probably damaging Het
Rtl1 T A 12: 109,561,051 (GRCm39) M263L unknown Het
Sec24c T C 14: 20,740,920 (GRCm39) V722A possibly damaging Het
Slc2a7 T C 4: 150,247,752 (GRCm39) L384P probably benign Het
Slc6a11 T C 6: 114,215,402 (GRCm39) L434P probably damaging Het
Sptb T C 12: 76,648,826 (GRCm39) E1869G possibly damaging Het
Susd2 G A 10: 75,475,485 (GRCm39) T473I probably benign Het
Synpo C T 18: 60,735,483 (GRCm39) R821H probably damaging Het
Tdrd9 G A 12: 112,012,627 (GRCm39) V1184I probably benign Het
Tle1 T G 4: 72,040,670 (GRCm39) K630Q possibly damaging Het
Traf3 A T 12: 111,228,426 (GRCm39) T546S probably benign Het
Ttc17 G A 2: 94,202,108 (GRCm39) T398M probably damaging Het
Ttn G C 2: 76,698,692 (GRCm39) N136K Het
Ttn T C 2: 76,747,111 (GRCm39) E4646G probably benign Het
Xbp1 T C 11: 5,474,266 (GRCm39) S156P probably damaging Het
Yipf7 C T 5: 69,674,387 (GRCm39) V253I 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
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
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'- TGTATGAAGGCCCCTCTGTTG -3'
(R):5'- GCCAAGTTCCTTTGGATGCC -3'

Sequencing Primer
(F):5'- GGTCAGCCCATTAATTCCCATTG -3'
(R):5'- GGATGCCCCTTGTTAGCC -3'
Posted On 2020-10-20