Incidental Mutation 'IGL00332:P2ry2'
ID 5198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P2ry2
Ensembl Gene ENSMUSG00000032860
Gene Name purinergic receptor P2Y, G-protein coupled 2
Synonyms P2Y2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL00332
Quality Score
Status
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100647393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000146679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037540] [ENSMUST00000178340] [ENSMUST00000207049] [ENSMUST00000207916] [ENSMUST00000208340]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037540
AA Change: V304A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: V304A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178340
AA Change: V304A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: V304A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect probably damaging
Transcript: ENSMUST00000207916
AA Change: V304A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000208340
AA Change: V304A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
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 P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display reduced nucleotide-stimulated calcium secretion from lung fibroblasts and nasal and tracheal epithelial cells and chloride secretion from trachea and gallbladder. Induction of neuronal differentiationby ATPgammaS is abolished. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fcgr2b T A 1: 170,788,799 (GRCm39) N273I possibly damaging Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gfra3 C T 18: 34,824,601 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Katna1 T C 10: 7,638,758 (GRCm39) probably benign Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nedd4 T A 9: 72,642,371 (GRCm39) V550E probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in P2ry2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:P2ry2 APN 7 100,647,321 (GRCm39) missense possibly damaging 0.86
R0567:P2ry2 UTSW 7 100,647,748 (GRCm39) missense probably damaging 1.00
R1882:P2ry2 UTSW 7 100,648,058 (GRCm39) nonsense probably null
R2483:P2ry2 UTSW 7 100,647,706 (GRCm39) missense probably benign 0.12
R3623:P2ry2 UTSW 7 100,647,706 (GRCm39) missense probably benign 0.12
R4193:P2ry2 UTSW 7 100,647,657 (GRCm39) missense probably benign 0.01
R4559:P2ry2 UTSW 7 100,647,363 (GRCm39) missense possibly damaging 0.89
R5161:P2ry2 UTSW 7 100,648,136 (GRCm39) nonsense probably null
R6021:P2ry2 UTSW 7 100,647,607 (GRCm39) missense probably benign
R8461:P2ry2 UTSW 7 100,647,895 (GRCm39) missense possibly damaging 0.75
R8816:P2ry2 UTSW 7 100,647,763 (GRCm39) missense possibly damaging 0.86
R8951:P2ry2 UTSW 7 100,647,228 (GRCm39) missense probably damaging 1.00
R9010:P2ry2 UTSW 7 100,647,358 (GRCm39) missense probably benign 0.17
R9024:P2ry2 UTSW 7 100,647,229 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20