Incidental Mutation 'R1882:P2ry2'
ID 209180
Institutional Source Beutler Lab
Gene Symbol P2ry2
Ensembl Gene ENSMUSG00000032860
Gene Name purinergic receptor P2Y, G-protein coupled 2
Synonyms P2Y2
MMRRC Submission 039903-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R1882 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 100648058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 82 (Y82*)
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 null
Transcript: ENSMUST00000037540
AA Change: Y82*
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: Y82*

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178340
AA Change: Y82*
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: Y82*

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect probably null
Transcript: ENSMUST00000207916
AA Change: Y82*
Predicted Effect probably null
Transcript: ENSMUST00000208340
AA Change: Y82*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,786,945 (GRCm39) S189P probably benign Het
Adgrg3 G T 8: 95,766,943 (GRCm39) V433F probably benign Het
Arhgap33 A T 7: 30,222,234 (GRCm39) W1233R probably damaging Het
Brf2 T C 8: 27,618,577 (GRCm39) D9G probably damaging Het
Btrc G A 19: 45,515,839 (GRCm39) R562Q probably damaging Het
Cenpu T C 8: 47,009,225 (GRCm39) F67L probably damaging Het
Chia1 T C 3: 106,035,790 (GRCm39) M150T probably damaging Het
Cntln A G 4: 85,019,072 (GRCm39) E1254G probably damaging Het
Creld1 G A 6: 113,469,166 (GRCm39) C332Y probably damaging Het
Ctla2a A G 13: 61,083,355 (GRCm39) probably benign Het
Dusp13b A T 14: 21,785,043 (GRCm39) D223E probably benign Het
Ext1 C A 15: 52,939,188 (GRCm39) L620F probably damaging Het
H2-DMb2 C T 17: 34,366,834 (GRCm39) R89C probably damaging Het
Klhl32 A T 4: 24,743,916 (GRCm39) L17* probably null Het
Lats2 C T 14: 57,934,811 (GRCm39) V640M probably damaging Het
Lrig3 G A 10: 125,845,694 (GRCm39) V708I possibly damaging Het
Mtcl1 T C 17: 66,686,315 (GRCm39) T415A probably benign Het
Mynn A G 3: 30,670,962 (GRCm39) *611W probably null Het
Nfx1 A G 4: 41,009,240 (GRCm39) T793A possibly damaging Het
Nlrp4d T C 7: 10,116,604 (GRCm39) noncoding transcript Het
Nos3 T C 5: 24,573,818 (GRCm39) V194A probably damaging Het
Npc1l1 C T 11: 6,167,473 (GRCm39) probably null Het
Nrg2 T C 18: 36,154,150 (GRCm39) D589G probably damaging Het
Omg C T 11: 79,392,545 (GRCm39) probably benign Het
Or10v9 T C 19: 11,832,835 (GRCm39) T161A probably damaging Het
Or14j5 T C 17: 38,161,839 (GRCm39) S119P probably damaging Het
Or2y17 A G 11: 49,231,539 (GRCm39) Y60C probably damaging Het
Or8k16 T A 2: 85,519,950 (GRCm39) M59K probably damaging Het
Pcdh1 T C 18: 38,335,895 (GRCm39) T247A possibly damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pgm3 A G 9: 86,447,743 (GRCm39) Y167H possibly damaging Het
Pramel15 A T 4: 144,103,485 (GRCm39) C214S probably benign Het
Prmt2 T C 10: 76,058,302 (GRCm39) H169R probably benign Het
Rad51ap2 T A 12: 11,506,251 (GRCm39) S58T possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,230,925 (GRCm39) S217P probably benign Het
Slco1a8 C A 6: 141,939,363 (GRCm39) probably null Het
Snx27 G A 3: 94,426,416 (GRCm39) T361I probably damaging Het
St7l A G 3: 104,775,363 (GRCm39) T80A probably damaging Het
Stk32b T A 5: 37,689,031 (GRCm39) M98L possibly damaging Het
Tonsl C A 15: 76,508,350 (GRCm39) A6S possibly damaging Het
Tpx2 A G 2: 152,711,611 (GRCm39) R49G probably benign Het
Trmt2a A G 16: 18,067,758 (GRCm39) K144E possibly damaging Het
Trpm7 A C 2: 126,654,697 (GRCm39) L1414V probably benign Het
Ugdh T C 5: 65,580,939 (GRCm39) K107E possibly damaging Het
Vamp3 A T 4: 151,135,366 (GRCm39) probably benign Het
Vmn1r172 T C 7: 23,359,651 (GRCm39) S179P probably damaging Het
Vmn1r28 A G 6: 58,242,963 (GRCm39) M269V probably benign Het
Vmn2r94 T C 17: 18,464,476 (GRCm39) T605A probably benign Het
Vwce A G 19: 10,615,520 (GRCm39) T134A possibly damaging Het
Zfp277 T C 12: 40,495,745 (GRCm39) E5G 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
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
Predicted Primers PCR Primer
(F):5'- GAGGTGTCATGGCAAGTGATC -3'
(R):5'- GTTTCAACGAGGACTTCAAGTAC -3'

Sequencing Primer
(F):5'- CATGGCAAGTGATCCGGGTTC -3'
(R):5'- CGAGGACTTCAAGTACGTGCTG -3'
Posted On 2014-06-30