Incidental Mutation 'R6021:P2ry2'
ID 478943
Institutional Source Beutler Lab
Gene Symbol P2ry2
Ensembl Gene ENSMUSG00000032860
Gene Name purinergic receptor P2Y, G-protein coupled 2
Synonyms P2Y2
MMRRC Submission 044194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6021 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 100645775-100661260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100647607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 233 (T233A)
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 benign
Transcript: ENSMUST00000037540
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036765
Gene: ENSMUSG00000032860
AA Change: T233A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 3.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178340
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137152
Gene: ENSMUSG00000032860
AA Change: T233A

DomainStartEndE-ValueType
Pfam:7tm_1 50 306 2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207049
Predicted Effect probably benign
Transcript: ENSMUST00000207916
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208340
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,509 (GRCm39) D141G possibly damaging Het
A1bg T C 15: 60,791,713 (GRCm39) E241G possibly damaging Het
Abca13 G A 11: 9,240,465 (GRCm39) W776* probably null Het
Akr1b10 T A 6: 34,369,309 (GRCm39) probably null Het
Aopep A G 13: 63,208,896 (GRCm39) T338A probably damaging Het
Atf7 T C 15: 102,465,908 (GRCm39) D84G probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Azi2 T A 9: 117,876,487 (GRCm39) M1K probably null Het
Boc T A 16: 44,309,017 (GRCm39) M832L probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacna1s T C 1: 136,034,225 (GRCm39) L1050P probably benign Het
Celsr2 G T 3: 108,308,561 (GRCm39) P1789T probably benign Het
Crebbp G A 16: 3,903,282 (GRCm39) R1986C probably damaging Het
Crtam T A 9: 40,901,477 (GRCm39) I150F probably damaging Het
Crybg1 G T 10: 43,873,534 (GRCm39) S1191R probably damaging Het
D630045J12Rik T C 6: 38,167,552 (GRCm39) T1017A probably benign Het
Dnah10 A G 5: 124,814,048 (GRCm39) E396G probably damaging Het
Enpp5 A T 17: 44,396,210 (GRCm39) Y374F probably benign Het
Fzd4 G A 7: 89,056,942 (GRCm39) A330T probably benign Het
Gabra5 A G 7: 57,157,740 (GRCm39) S25P probably benign Het
Get1 T C 16: 95,946,878 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,589 (GRCm39) Y198C probably damaging Het
Gm3173 A C 14: 15,728,458 (GRCm39) D39A probably damaging Het
Grm2 T C 9: 106,527,999 (GRCm39) D295G probably damaging Het
H2-T13 T G 17: 36,392,166 (GRCm39) E182A probably damaging Het
Igfbp5 A G 1: 72,902,363 (GRCm39) M208T possibly damaging Het
Ildr2 T A 1: 166,131,173 (GRCm39) M343K possibly damaging Het
Kif19b A T 5: 140,455,434 (GRCm39) M347L probably damaging Het
Loxhd1 A T 18: 77,499,946 (GRCm39) D120V probably damaging Het
Lrp1 T C 10: 127,413,883 (GRCm39) D1175G probably damaging Het
Lrp1b C A 2: 41,234,439 (GRCm39) D1171Y probably benign Het
Lrrc9 A T 12: 72,516,005 (GRCm39) I563F probably damaging Het
Ltbp3 A T 19: 5,803,708 (GRCm39) T798S probably benign Het
Msantd4 T A 9: 4,384,063 (GRCm39) V128E probably benign Het
Mtf2 A G 5: 108,229,003 (GRCm39) I69V possibly damaging Het
Myh10 T A 11: 68,699,688 (GRCm39) S1712T possibly damaging Het
Mylk3 A G 8: 86,091,442 (GRCm39) V121A possibly damaging Het
Ndufaf4 A G 4: 24,901,760 (GRCm39) N100D probably benign Het
Notch2 T C 3: 98,029,288 (GRCm39) F1017S probably damaging Het
Or4a27 G T 2: 88,559,294 (GRCm39) Y216* probably null Het
Or4a80 A C 2: 89,582,465 (GRCm39) S236A probably benign Het
Or4c108 G T 2: 88,803,376 (GRCm39) Y286* probably null Het
Paip1 T "TTA,TT" 13: 119,593,671 (GRCm39) probably null Het
Pak1 T C 7: 97,503,670 (GRCm39) S2P probably damaging Het
Pde8b A T 13: 95,162,670 (GRCm39) D817E possibly damaging Het
Pfdn2 C A 1: 171,173,338 (GRCm39) probably benign Het
Pramel28 A T 4: 143,692,336 (GRCm39) C222S probably benign Het
Raver1 A G 9: 20,987,918 (GRCm39) L606P probably damaging Het
Robo3 C T 9: 37,333,829 (GRCm39) W668* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rxfp2 A G 5: 149,987,202 (GRCm39) N337S possibly damaging Het
Samhd1 T C 2: 156,962,474 (GRCm39) probably null Het
Sardh A G 2: 27,079,655 (GRCm39) V879A probably benign Het
Slc4a4 A T 5: 89,188,261 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,207,012 (GRCm39) L332P probably damaging Het
Tas2r135 T C 6: 42,383,321 (GRCm39) Y287H probably damaging Het
Tlr4 T A 4: 66,759,103 (GRCm39) I632N probably damaging Het
Tmem145 C T 7: 25,008,270 (GRCm39) probably null Het
Trmt61a C A 12: 111,647,411 (GRCm39) F169L probably damaging Het
Trp53tg5 T A 2: 164,313,391 (GRCm39) I95L probably benign Het
Vmn1r85 T C 7: 12,818,616 (GRCm39) E176G probably benign Het
Vmn2r75 T C 7: 85,820,820 (GRCm39) D38G probably benign Het
Vmn2r99 A G 17: 19,598,210 (GRCm39) Y78C probably damaging Het
Zfp964 G T 8: 70,115,742 (GRCm39) S114I unknown 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
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'- GGCCGGGTGATCTTATATGC -3'
(R):5'- ACTGGCCATTTAGCACGGTG -3'

Sequencing Primer
(F):5'- CCGGGTGATCTTATATGCCATGTTG -3'
(R):5'- TCACCTGCATCAGCGTG -3'
Posted On 2017-06-26