Incidental Mutation 'IGL01775:P2rx3'
ID154066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx3
Ensembl Gene ENSMUSG00000027071
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 3
Synonyms4930513E20Rik, P2X3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL01775
Quality Score
Status
Chromosome2
Chromosomal Location84998583-85037462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85024157 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 91 (R91H)
Ref Sequence ENSEMBL: ENSMUSP00000107243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]
Predicted Effect probably benign
Transcript: ENSMUST00000028465
AA Change: R115H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: R115H

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 367 1.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111613
AA Change: R115H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: R115H

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111616
AA Change: R91H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: R91H

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A T 10: 100,583,937 L94Q probably benign Het
Aatf A T 11: 84,471,137 L333Q probably damaging Het
Ablim3 A T 18: 61,816,918 probably benign Het
Acsl6 T C 11: 54,346,000 probably benign Het
Adra1b T A 11: 43,835,301 D263V probably damaging Het
Aicda G A 6: 122,561,053 V57M probably damaging Het
C2cd3 T C 7: 100,443,431 W494R probably damaging Het
Ccnb1 T C 13: 100,783,509 S165G probably benign Het
Cnot4 A T 6: 35,069,476 probably benign Het
Dph6 A T 2: 114,518,295 probably benign Het
Emc3 A G 6: 113,531,335 S50P possibly damaging Het
Fbxo45 A C 16: 32,233,275 probably null Het
Gm14496 A T 2: 182,000,332 T599S probably benign Het
Gspt1 T C 16: 11,223,295 I535V possibly damaging Het
Hemk1 A G 9: 107,330,796 I215T possibly damaging Het
Ighm A T 12: 113,422,467 C88S unknown Het
Itih2 A C 2: 10,129,286 D38E probably benign Het
Lat C A 7: 126,368,089 V113L probably benign Het
Micalcl T A 7: 112,382,062 F480L possibly damaging Het
Mki67 A T 7: 135,698,276 S1676R possibly damaging Het
Msh2 A T 17: 87,682,646 N254I possibly damaging Het
Naglu T C 11: 101,074,095 M336T probably damaging Het
Nhsl1 C T 10: 18,524,474 R483C probably damaging Het
Nsmaf C T 4: 6,396,791 E899K possibly damaging Het
Nup85 T C 11: 115,580,767 Y181H probably damaging Het
Olfr1030 T C 2: 85,984,670 S277P probably damaging Het
Olfr666 A T 7: 104,893,292 M112K possibly damaging Het
Olfr855 A T 9: 19,584,705 Q56L probably benign Het
Olfr937 C A 9: 39,060,467 L66F probably damaging Het
Plag1 T C 4: 3,904,513 D226G probably damaging Het
Pofut1 T A 2: 153,248,473 F96I probably damaging Het
Prim1 A G 10: 128,029,243 N399S probably benign Het
Prkd3 G T 17: 79,012,760 T51K probably damaging Het
Ptprc T C 1: 138,064,759 Y1210C probably damaging Het
Rbm43 A T 2: 51,925,448 S254T probably damaging Het
Retsat G A 6: 72,607,317 R528Q probably damaging Het
Rps8 C A 4: 117,155,052 R56L probably benign Het
Samhd1 A T 2: 157,114,330 probably benign Het
Sfxn1 T C 13: 54,105,739 probably benign Het
Stk33 T A 7: 109,312,367 E396D possibly damaging Het
Tcaim T C 9: 122,818,825 V135A probably damaging Het
Thsd7b A G 1: 129,628,939 D421G probably damaging Het
Unc80 A G 1: 66,601,056 D1374G possibly damaging Het
Wnk2 C A 13: 49,071,110 D232Y probably damaging Het
Zfand1 T C 3: 10,344,866 T145A probably damaging Het
Other mutations in P2rx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:P2rx3 APN 2 85035272 missense probably damaging 1.00
IGL01897:P2rx3 APN 2 85023481 critical splice donor site probably benign
IGL02399:P2rx3 APN 2 85023227 missense probably benign
R0928:P2rx3 UTSW 2 85035298 start codon destroyed probably null 0.98
R1428:P2rx3 UTSW 2 85024950 missense possibly damaging 0.91
R1537:P2rx3 UTSW 2 85023481 critical splice donor site probably null
R1678:P2rx3 UTSW 2 85022467 missense possibly damaging 0.90
R4332:P2rx3 UTSW 2 85024861 missense probably benign 0.25
R4897:P2rx3 UTSW 2 85024926 missense probably damaging 1.00
R5052:P2rx3 UTSW 2 84999024 missense probably benign 0.01
R5903:P2rx3 UTSW 2 85000727 missense possibly damaging 0.93
R5917:P2rx3 UTSW 2 85035247 missense probably damaging 1.00
R6614:P2rx3 UTSW 2 85035199 missense probably damaging 1.00
Posted On2014-02-04