Incidental Mutation 'R8816:P2ry2'
ID 672740
Institutional Source Beutler Lab
Gene Symbol P2ry2
Ensembl Gene ENSMUSG00000032860
Gene Name purinergic receptor P2Y, G-protein coupled 2
Synonyms P2Y2
MMRRC Submission 068726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R8816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100647763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 181 (I181F)
Ref Sequence ENSEMBL: ENSMUSP00000036765 (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: I181F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: I181F

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178340
AA Change: I181F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: I181F

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect possibly damaging
Transcript: ENSMUST00000207916
AA Change: I181F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208340
AA Change: I181F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,127,513 (GRCm39) H348L probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Ass1 T C 2: 31,383,189 (GRCm39) probably benign Het
Atp8b4 C T 2: 126,214,084 (GRCm39) probably benign Het
Atrn C A 2: 130,748,798 (GRCm39) N106K probably damaging Het
Atrn T C 2: 130,846,494 (GRCm39) V1256A probably damaging Het
Bicdl1 T A 5: 115,862,804 (GRCm39) Q150H probably damaging Het
Bltp3b T C 10: 89,626,597 (GRCm39) probably benign Het
Cdhr4 T C 9: 107,872,791 (GRCm39) V280A possibly damaging Het
Cfap54 C T 10: 92,714,454 (GRCm39) V2642I unknown Het
Chd2 T C 7: 73,140,245 (GRCm39) H661R probably damaging Het
Cntnap2 A G 6: 46,833,076 (GRCm39) D763G possibly damaging Het
Csnk1g2 T C 10: 80,474,093 (GRCm39) C160R probably damaging Het
Cyb5r4 T C 9: 86,904,286 (GRCm39) S19P probably benign Het
Cyp4a30b G A 4: 115,309,834 (GRCm39) V12M probably benign Het
Dpp6 C T 5: 27,930,711 (GRCm39) P848S probably benign Het
Dzip1 T C 14: 119,159,785 (GRCm39) Y141C probably benign Het
Eif2b3 C A 4: 116,928,052 (GRCm39) Q424K probably benign Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fcgbp T G 7: 27,784,412 (GRCm39) S157R probably benign Het
Fmnl2 T G 2: 53,004,214 (GRCm39) V642G unknown Het
Gpr119 C T X: 47,762,276 (GRCm39) R287Q possibly damaging Het
Grm7 C T 6: 111,230,966 (GRCm39) T463I possibly damaging Het
Haus4 G A 14: 54,779,710 (GRCm39) R305C probably benign Het
Htr1f A G 16: 64,746,537 (GRCm39) S252P probably benign Het
Ino80b T C 6: 83,098,861 (GRCm39) Q359R probably damaging Het
Itgad C A 7: 127,797,542 (GRCm39) Y924* probably null Het
Itpr2 A G 6: 146,142,710 (GRCm39) Y1703H probably damaging Het
Kif5c T A 2: 49,584,799 (GRCm39) V174E probably damaging Het
Kifc2 A G 15: 76,548,371 (GRCm39) E405G probably damaging Het
Klk1b3 T C 7: 43,851,668 (GRCm39) V242A possibly damaging Het
Kndc1 T C 7: 139,517,909 (GRCm39) F1615S probably damaging Het
Lmtk2 T A 5: 144,112,793 (GRCm39) L1171* probably null Het
Myh10 A G 11: 68,693,778 (GRCm39) E1530G probably damaging Het
Nav3 T A 10: 109,699,721 (GRCm39) S258C possibly damaging Het
Nudcd3 C T 11: 6,100,587 (GRCm39) G186S probably damaging Het
Or9s15 T A 1: 92,524,768 (GRCm39) C176S probably damaging Het
Otog C T 7: 45,950,905 (GRCm39) S374F possibly damaging Het
Pde11a T C 2: 76,121,577 (GRCm39) I335V probably benign Het
Phyhip A C 14: 70,704,375 (GRCm39) D198A probably damaging Het
Pik3r5 A T 11: 68,385,060 (GRCm39) Y655F probably damaging Het
Rab6a T C 7: 100,279,145 (GRCm39) I95T possibly damaging Het
Sgsm1 T C 5: 113,435,097 (GRCm39) E99G probably damaging Het
Skint10 A T 4: 112,603,892 (GRCm39) F98L probably benign Het
Slc35c2 A G 2: 165,119,378 (GRCm39) S321P probably benign Het
Smyd1 T A 6: 71,192,868 (GRCm39) E447V probably damaging Het
Smyd4 T C 11: 75,281,232 (GRCm39) V235A probably benign Het
Sod2 A G 17: 13,227,253 (GRCm39) Y69C probably benign Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Tfap2b A G 1: 19,284,337 (GRCm39) S82G probably benign Het
Tln2 C A 9: 67,128,693 (GRCm39) E1465D possibly damaging Het
Tln2 A G 9: 67,128,799 (GRCm39) I1430T probably damaging Het
Trio G T 15: 27,741,357 (GRCm39) N2680K probably damaging Het
Trmt10c A T 16: 55,854,522 (GRCm39) V371D probably damaging Het
Trpm3 T C 19: 22,965,580 (GRCm39) S1692P probably damaging Het
Usb1 G T 8: 96,071,984 (GRCm39) C228F probably benign Het
Veph1 G T 3: 66,065,646 (GRCm39) H474N probably benign Het
Wls A G 3: 159,639,928 (GRCm39) T520A possibly damaging Het
Ywhae T C 11: 75,623,878 (GRCm39) Y9H probably damaging Het
Zranb3 C T 1: 127,964,347 (GRCm39) V127M possibly damaging 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
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
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'- CAATGGTGCGCACAGACTTG -3'
(R):5'- ACCACTGGCCATTTAGCAC -3'

Sequencing Primer
(F):5'- ACAGACTTGCGCTTGGC -3'
(R):5'- TGGCCATTTAGCACGGTGC -3'
Posted On 2021-04-30