Incidental Mutation 'R4559:P2ry2'
ID 342987
Institutional Source Beutler Lab
Gene Symbol P2ry2
Ensembl Gene ENSMUSG00000032860
Gene Name purinergic receptor P2Y, G-protein coupled 2
Synonyms P2Y2
MMRRC Submission 041785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4559 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100647363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 314 (V314A)
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: V314A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: V314A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178340
AA Change: V314A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: V314A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect possibly damaging
Transcript: ENSMUST00000207916
AA Change: V314A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208340
AA Change: V314A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1206 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik A G 3: 40,567,240 (GRCm39) noncoding transcript Het
1700066M21Rik T C 1: 57,422,083 (GRCm39) F153S possibly damaging Het
Acss1 A G 2: 150,480,405 (GRCm39) V222A probably benign Het
Atad2b A G 12: 4,993,223 (GRCm39) I247M probably benign Het
Atxn10 A G 15: 85,322,321 (GRCm39) I398V possibly damaging Het
Cep192 T A 18: 68,004,584 (GRCm39) C2312S probably damaging Het
Cidea C T 18: 67,493,298 (GRCm39) Q106* probably null Het
Cnga4 A G 7: 105,054,892 (GRCm39) T159A probably damaging Het
Cyp2j12 G T 4: 96,001,194 (GRCm39) S304R probably damaging Het
Dennd2b A G 7: 109,124,785 (GRCm39) F665L probably damaging Het
Dsg4 T A 18: 20,603,978 (GRCm39) V815E probably damaging Het
Entrep1 G A 19: 24,007,913 (GRCm39) S130L probably damaging Het
Farp1 T C 14: 121,510,213 (GRCm39) M737T probably damaging Het
Fbn1 T A 2: 125,193,634 (GRCm39) D1395V possibly damaging Het
Fbn2 C T 18: 58,209,146 (GRCm39) M1076I probably benign Het
Fitm2 T A 2: 163,314,593 (GRCm39) probably benign Het
Fras1 A G 5: 96,929,148 (GRCm39) R3851G probably damaging Het
Frem2 C T 3: 53,561,742 (GRCm39) V922I probably benign Het
Gm10719 A T 9: 3,018,945 (GRCm39) T200S probably benign Het
Grin3a T C 4: 49,844,555 (GRCm39) D176G probably damaging Het
Hdac5 T C 11: 102,089,928 (GRCm39) probably benign Het
Ift140 C A 17: 25,309,741 (GRCm39) H1090Q probably damaging Het
Il20ra A G 10: 19,625,032 (GRCm39) T104A probably damaging Het
Il22ra2 A G 10: 19,502,460 (GRCm39) D93G possibly damaging Het
Ing1 A G 8: 11,612,090 (GRCm39) K176R probably benign Het
Jph1 A T 1: 17,074,735 (GRCm39) C428S probably benign Het
Kif13b G T 14: 65,043,581 (GRCm39) G1794W probably damaging Het
Map10 A G 8: 126,398,553 (GRCm39) T649A probably benign Het
Med12l T C 3: 58,914,523 (GRCm39) probably null Het
Nat8f1 A G 6: 85,887,567 (GRCm39) I131T probably benign Het
Oas1d C A 5: 121,054,958 (GRCm39) Q177K probably benign Het
Or4a74 C A 2: 89,440,043 (GRCm39) M134I probably damaging Het
Or51q1 G A 7: 103,628,767 (GRCm39) D123N probably damaging Het
Pabir2 G A X: 52,349,554 (GRCm39) probably benign Het
Pfkl G T 10: 77,824,717 (GRCm39) R691S probably benign Het
Plb1 T A 5: 32,490,175 (GRCm39) I1005N probably damaging Het
Prkacb A G 3: 146,451,147 (GRCm39) probably benign Het
Ptprm A T 17: 66,990,403 (GRCm39) Y1412N possibly damaging Het
Rab22a A G 2: 173,503,226 (GRCm39) D13G probably damaging Het
Rab29 G A 1: 131,800,305 (GRCm39) W201* probably null Het
Rasa3 T C 8: 13,648,259 (GRCm39) E135G probably damaging Het
Rassf10 A G 7: 112,554,338 (GRCm39) E313G probably benign Het
Sf1 GGCAGCAGCAGCAGCAGCAGC GGCAGCAGCAGCAGCAGC 19: 6,424,845 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,031,678 (GRCm39) L468Q probably damaging Het
Slc17a1 A T 13: 24,062,695 (GRCm39) K254* probably null Het
Slc6a12 G A 6: 121,340,820 (GRCm39) probably null Het
Slfn8 A G 11: 82,895,570 (GRCm39) L412P probably damaging Het
Taf4b T C 18: 14,946,583 (GRCm39) S469P probably damaging Het
Tgoln1 T C 6: 72,592,664 (GRCm39) E272G probably damaging Het
Tlr12 C A 4: 128,509,563 (GRCm39) G896W probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ttn G A 2: 76,749,890 (GRCm39) H3720Y probably benign Het
Other mutations in P2ry2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:P2ry2 APN 7 100,647,393 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTATAGCCGAATGTCCTTAGTCTC -3'
(R):5'- CAAGTCTGTGCGCACCATTG -3'

Sequencing Primer
(F):5'- TCACTTCCAGCTGGTGTGGAC -3'
(R):5'- CATTGCCTTGGTACTGGCCG -3'
Posted On 2015-09-24