Incidental Mutation 'IGL02221:P2ry2'
ID 285147
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: 0.111) question?
Stock # IGL02221
Quality Score
Status
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100647321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 328 (P328H)
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 possibly damaging
Transcript: ENSMUST00000037540
AA Change: P328H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: P328H

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178340
AA Change: P328H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: P328H

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect possibly damaging
Transcript: ENSMUST00000207916
AA Change: P328H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208340
AA Change: P328H

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,907 (GRCm39) I24M probably benign Het
Ano5 G A 7: 51,220,071 (GRCm39) D390N probably damaging Het
Atp2c2 A G 8: 120,471,073 (GRCm39) Y407C probably damaging Het
B430306N03Rik T C 17: 48,631,223 (GRCm39) probably benign Het
Cd44 A T 2: 102,676,858 (GRCm39) M269K probably benign Het
Cdin1 T C 2: 115,469,547 (GRCm39) probably null Het
Cpped1 G T 16: 11,646,392 (GRCm39) P144Q probably damaging Het
Epas1 C T 17: 87,135,275 (GRCm39) T636M possibly damaging Het
Hsd17b3 G T 13: 64,236,865 (GRCm39) H26Q probably benign Het
Ighv8-9 A G 12: 115,431,947 (GRCm39) probably benign Het
Itih1 A T 14: 30,651,544 (GRCm39) C883S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lcn3 A T 2: 25,656,172 (GRCm39) M76L probably benign Het
Lin9 A T 1: 180,478,399 (GRCm39) M53L probably benign Het
Mast1 A G 8: 85,645,384 (GRCm39) V687A possibly damaging Het
Mmd2 C T 5: 142,555,212 (GRCm39) probably benign Het
Mroh2b T C 15: 4,953,123 (GRCm39) L619S probably damaging Het
Ngef T C 1: 87,468,418 (GRCm39) T114A probably benign Het
Nlrp12 T C 7: 3,289,597 (GRCm39) D305G possibly damaging Het
Nlrp1a A T 11: 71,013,944 (GRCm39) F435L possibly damaging Het
Nup188 A G 2: 30,220,653 (GRCm39) I909V possibly damaging Het
Osbpl3 A C 6: 50,304,347 (GRCm39) probably benign Het
Prex2 A T 1: 11,131,569 (GRCm39) N46I probably benign Het
Prss42 T C 9: 110,632,243 (GRCm39) F325L possibly damaging Het
Reep5 A G 18: 34,482,850 (GRCm39) F120L probably damaging Het
Scg3 G T 9: 75,590,939 (GRCm39) F23L probably damaging Het
Scx A G 15: 76,343,295 (GRCm39) D200G probably benign Het
Setd5 C T 6: 113,098,131 (GRCm39) probably benign Het
Tcf4 T A 18: 69,480,438 (GRCm39) S23R probably damaging Het
Ttc4 A G 4: 106,533,793 (GRCm39) probably null Het
Tyro3 T A 2: 119,643,071 (GRCm39) C627S probably benign Het
Yipf2 T C 9: 21,502,764 (GRCm39) N106S possibly damaging Het
Zfp619 T C 7: 39,186,334 (GRCm39) L788P probably benign Het
Zfp831 G A 2: 174,485,519 (GRCm39) V65I probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in P2ry2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:P2ry2 APN 7 100,647,393 (GRCm39) missense probably damaging 0.99
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 2015-04-16