Incidental Mutation 'IGL03088:P2rx5'
ID418252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2rx5
Ensembl Gene ENSMUSG00000005950
Gene Namepurinergic receptor P2X, ligand-gated ion channel, 5
SynonymsP2X5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03088
Quality Score
Status
Chromosome11
Chromosomal Location73160421-73172685 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 73165620 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006104] [ENSMUST00000135202] [ENSMUST00000136894]
Predicted Effect probably benign
Transcript: ENSMUST00000006104
SMART Domains Protein: ENSMUSP00000006104
Gene: ENSMUSG00000005950

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 382 2.1e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135202
SMART Domains Protein: ENSMUSP00000118448
Gene: ENSMUSG00000005950

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 307 1.8e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136894
SMART Domains Protein: ENSMUSP00000121834
Gene: ENSMUSG00000005950

DomainStartEndE-ValueType
Pfam:P2X_receptor 14 331 2.9e-144 PFAM
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. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit decreased peripheral blood CD8+ lymphocytes and elevated NK cells. Impaired learning/memory during trace aversive conditioning and increased exploratory behavior during open field testing is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,293,384 L299R unknown Het
5330417C22Rik A G 3: 108,536,358 W31R probably damaging Het
8030411F24Rik A T 2: 148,783,407 H87L possibly damaging Het
Abca9 T G 11: 110,144,261 R693S probably benign Het
Adamts20 A T 15: 94,329,914 probably null Het
Afg1l T A 10: 42,426,497 D169V probably damaging Het
Agbl1 T A 7: 76,720,142 M663K probably benign Het
Angpt2 T A 8: 18,741,023 I86F probably benign Het
Ankrd2 G A 19: 42,041,985 E160K probably null Het
As3mt G T 19: 46,707,794 V14F probably damaging Het
Atp6v0a2 T C 5: 124,714,107 probably benign Het
Atp6v0d1 T A 8: 105,530,959 I113F probably damaging Het
Bank1 A G 3: 136,093,362 I406T probably damaging Het
BC053393 C A 11: 46,584,417 F146L probably benign Het
Bicdl1 A G 5: 115,663,822 V59A possibly damaging Het
Brsk1 A G 7: 4,710,454 probably benign Het
Cdh17 T A 4: 11,810,473 N721K probably damaging Het
Cercam A G 2: 29,881,687 probably benign Het
Clpb T A 7: 101,785,449 L484* probably null Het
Creb3l1 T A 2: 91,995,394 M127L probably benign Het
Ctla2b A C 13: 60,896,060 D122E probably damaging Het
Cyb5rl C A 4: 107,081,028 Y12* probably null Het
Dennd5a T C 7: 109,908,381 Y800C probably damaging Het
Dmrt3 T G 19: 25,623,047 S419A probably benign Het
Fbxo38 A G 18: 62,522,472 V381A possibly damaging Het
Flg2 A T 3: 93,203,191 H842L unknown Het
Fn1 A T 1: 71,614,038 probably null Het
Fos A C 12: 85,475,856 T181P possibly damaging Het
Fzd10 A G 5: 128,602,605 Y463C possibly damaging Het
Gprc5b T C 7: 118,983,633 M338V probably benign Het
Gsta4 T C 9: 78,206,063 probably benign Het
Gstm2 T A 3: 107,986,046 T34S probably benign Het
Haspin C T 11: 73,136,625 R546Q probably damaging Het
Itgad G A 7: 128,203,032 R958H probably benign Het
Kansl1l A T 1: 66,735,725 H647Q probably damaging Het
Kif5c A C 2: 49,744,443 R762S probably benign Het
Klf4 A G 4: 55,530,811 L50P probably damaging Het
Klf4 C A 4: 55,530,758 A68S possibly damaging Het
Kmt2c T C 5: 25,299,804 E3502G probably damaging Het
Krt8 A G 15: 102,000,587 I202T possibly damaging Het
Lmcd1 A T 6: 112,310,688 T112S probably damaging Het
Lpxn T C 19: 12,833,211 C340R probably damaging Het
Man2a2 C T 7: 80,359,334 V844M possibly damaging Het
Map10 G A 8: 125,671,070 E401K probably benign Het
Mark4 A T 7: 19,451,584 L75Q probably damaging Het
Mlf2 T G 6: 124,933,982 M81R probably damaging Het
Mup3 A G 4: 62,086,842 I67T probably damaging Het
Mycbpap T C 11: 94,513,943 probably null Het
Myt1l T C 12: 29,920,477 V1185A probably benign Het
Ncoa7 C T 10: 30,698,125 probably null Het
Nos1 C A 5: 117,867,258 N14K probably damaging Het
Nova2 G T 7: 18,950,569 V116F unknown Het
Obox3 G A 7: 15,627,002 probably benign Het
Olfr110 A G 17: 37,498,648 probably benign Het
Olfr239 A T 17: 33,199,560 T171S probably benign Het
Olfr325 T A 11: 58,581,827 probably benign Het
Olfr914 A T 9: 38,607,301 S279C probably damaging Het
Parvb T A 15: 84,308,843 probably benign Het
Popdc2 A T 16: 38,373,822 T202S probably damaging Het
Ppm1j T A 3: 104,785,409 Y411* probably null Het
Rapgefl1 C A 11: 98,849,232 L484M probably damaging Het
Sept14 A G 5: 129,697,733 probably benign Het
Slf1 A G 13: 77,084,435 C517R probably damaging Het
Smyd3 A G 1: 179,094,333 probably null Het
Snx9 A G 17: 5,924,610 T458A probably benign Het
Srgap1 T C 10: 121,825,693 D514G possibly damaging Het
Tbc1d14 A G 5: 36,524,964 S311P probably damaging Het
Tmem150c T G 5: 100,086,217 K91N probably damaging Het
Traf3 T A 12: 111,261,843 M471K probably damaging Het
Tubd1 G T 11: 86,552,999 G178C probably damaging Het
Vav2 T C 2: 27,267,250 K847E possibly damaging Het
Vmn2r100 A T 17: 19,522,039 H225L probably benign Het
Wrn A T 8: 33,268,823 probably benign Het
Xpo7 T G 14: 70,681,262 S710R probably benign Het
Zfp780b C T 7: 27,962,992 V713I possibly damaging Het
Zkscan17 A T 11: 59,487,766 I197N probably damaging Het
Other mutations in P2rx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:P2rx5 APN 11 73167492 critical splice acceptor site probably null
IGL01860:P2rx5 APN 11 73165559 missense probably damaging 0.98
IGL02019:P2rx5 APN 11 73167977 splice site probably benign
IGL03079:P2rx5 APN 11 73164888 missense possibly damaging 0.92
R0014:P2rx5 UTSW 11 73167062 splice site probably benign
R0845:P2rx5 UTSW 11 73165574 missense probably damaging 1.00
R1384:P2rx5 UTSW 11 73167890 missense probably damaging 1.00
R3415:P2rx5 UTSW 11 73160660 missense possibly damaging 0.94
R4155:P2rx5 UTSW 11 73171829 missense probably damaging 0.96
R4641:P2rx5 UTSW 11 73167564 missense possibly damaging 0.58
R4750:P2rx5 UTSW 11 73164877 missense probably damaging 1.00
R4854:P2rx5 UTSW 11 73171779 missense probably benign 0.23
R5186:P2rx5 UTSW 11 73171790 missense possibly damaging 0.68
R7003:P2rx5 UTSW 11 73167974 critical splice donor site probably null
R7141:P2rx5 UTSW 11 73160648 missense probably damaging 1.00
R7312:P2rx5 UTSW 11 73164866 missense probably damaging 1.00
X0004:P2rx5 UTSW 11 73166989 missense probably damaging 1.00
Posted On2016-08-02