Incidental Mutation 'R0533:Ptger2'
ID 49341
Institutional Source Beutler Lab
Gene Symbol Ptger2
Ensembl Gene ENSMUSG00000037759
Gene Name prostaglandin E receptor 2 (subtype EP2)
Synonyms EP2, EP2 receptor, Ptgerep2
MMRRC Submission 038725-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0533 (G1)
Quality Score 151
Status Validated
Chromosome 14
Chromosomal Location 45225652-45241277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45226439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 6 (N6K)
Ref Sequence ENSEMBL: ENSMUSP00000038483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046891]
AlphaFold Q62053
Predicted Effect possibly damaging
Transcript: ENSMUST00000046891
AA Change: N6K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
AA Change: N6K

low complexity region 35 53 N/A INTRINSIC
Pfam:7tm_1 57 315 5e-26 PFAM
Pfam:7TM_GPCR_Srx 65 243 7.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 66 319 1.2e-7 PFAM
low complexity region 338 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228945
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for one targeted null mutation exhibit increased blood pressure when fed a high-salt diet. Female mutants for 2 null alleles have small litters due to impaired ovulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T G 8: 60,984,797 (GRCm39) probably benign Het
Abcb1b A T 5: 8,914,113 (GRCm39) probably null Het
Adcy10 A G 1: 165,391,592 (GRCm39) N1283S probably benign Het
Adgrb1 T A 15: 74,413,408 (GRCm39) W531R probably damaging Het
Ago4 A G 4: 126,410,653 (GRCm39) V246A probably benign Het
Arid5b A T 10: 68,021,863 (GRCm39) D242E probably damaging Het
Arpp21 A G 9: 111,955,573 (GRCm39) V522A probably benign Het
Atg4b T A 1: 93,712,632 (GRCm39) probably benign Het
Capn12 T C 7: 28,587,108 (GRCm39) F359S possibly damaging Het
Ccdc88c A T 12: 100,920,541 (GRCm39) I360N probably damaging Het
Clic3 A G 2: 25,348,150 (GRCm39) Y99C probably damaging Het
Cux1 T C 5: 136,336,713 (GRCm39) E925G probably damaging Het
Dnah10 G A 5: 124,852,314 (GRCm39) probably null Het
Dnah17 A G 11: 118,001,363 (GRCm39) V860A possibly damaging Het
Etv5 C T 16: 22,254,825 (GRCm39) probably benign Het
Fam83a T A 15: 57,873,207 (GRCm39) N345K probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gpm6a A G 8: 55,508,409 (GRCm39) probably null Het
Grid1 T A 14: 35,031,342 (GRCm39) Y312N possibly damaging Het
Gstm4 T C 3: 107,950,841 (GRCm39) N51S probably benign Het
Hid1 A T 11: 115,239,635 (GRCm39) I765N probably damaging Het
Hmmr A G 11: 40,600,816 (GRCm39) V518A unknown Het
Itgb6 A G 2: 60,499,541 (GRCm39) V84A probably benign Het
Kbtbd4 A G 2: 90,737,948 (GRCm39) K233E probably benign Het
Kif15 A T 9: 122,838,498 (GRCm39) probably benign Het
Klre1 T C 6: 129,560,156 (GRCm39) S143P probably damaging Het
Krt81 T C 15: 101,359,270 (GRCm39) D216G probably benign Het
Mctp2 G T 7: 71,730,570 (GRCm39) H868Q probably benign Het
Morc2b G C 17: 33,354,906 (GRCm39) Y955* probably null Het
Myog A C 1: 134,218,211 (GRCm39) N140H possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neil3 A T 8: 54,091,810 (GRCm39) probably null Het
Nrg1 T C 8: 32,321,273 (GRCm39) probably null Het
Or1o4 A T 17: 37,591,182 (GRCm39) L43* probably null Het
Or56a3b G A 7: 104,771,557 (GRCm39) V298I probably benign Het
Or56b35 A T 7: 104,963,579 (GRCm39) M123L probably benign Het
Pramel16 A T 4: 143,677,290 (GRCm39) D96E possibly damaging Het
Pramel23 G T 4: 143,424,590 (GRCm39) C284* probably null Het
Ryr1 T A 7: 28,778,205 (GRCm39) E2097V probably damaging Het
Sel1l A T 12: 91,786,868 (GRCm39) F397Y probably damaging Het
Skint5 A G 4: 113,685,064 (GRCm39) V551A unknown Het
Slc39a12 A G 2: 14,405,142 (GRCm39) T245A probably benign Het
Syne1 C T 10: 5,308,438 (GRCm39) V706I probably benign Het
Tbc1d8 G T 1: 39,411,855 (GRCm39) Q994K possibly damaging Het
Tnrc6b C T 15: 80,760,854 (GRCm39) T187I probably benign Het
Ttll6 G A 11: 96,045,582 (GRCm39) A600T probably benign Het
Ust T C 10: 8,123,844 (GRCm39) probably benign Het
Vmn2r71 GT GTT 7: 85,268,426 (GRCm39) probably null Het
Vstm2a C T 11: 16,213,041 (GRCm39) A142V probably damaging Het
Wfs1 T A 5: 37,131,066 (GRCm39) probably benign Het
Wrap73 G A 4: 154,236,106 (GRCm39) G145D probably damaging Het
Wrap73 G A 4: 154,240,611 (GRCm39) V368M possibly damaging Het
Xrra1 T A 7: 99,524,352 (GRCm39) probably null Het
Zfhx2 C T 14: 55,301,547 (GRCm39) V2146I probably benign Het
Zfp335 A T 2: 164,749,842 (GRCm39) L185* probably null Het
Other mutations in Ptger2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Ptger2 APN 14 45,239,198 (GRCm39) splice site probably benign
IGL03127:Ptger2 APN 14 45,239,462 (GRCm39) utr 3 prime probably benign
R0720:Ptger2 UTSW 14 45,226,590 (GRCm39) missense probably benign
R0973:Ptger2 UTSW 14 45,226,957 (GRCm39) missense probably damaging 1.00
R1643:Ptger2 UTSW 14 45,226,423 (GRCm39) start codon destroyed probably null 0.98
R1737:Ptger2 UTSW 14 45,239,228 (GRCm39) missense probably benign 0.04
R2281:Ptger2 UTSW 14 45,227,107 (GRCm39) missense probably damaging 1.00
R3846:Ptger2 UTSW 14 45,226,784 (GRCm39) missense probably damaging 1.00
R4623:Ptger2 UTSW 14 45,226,471 (GRCm39) missense possibly damaging 0.91
R4735:Ptger2 UTSW 14 45,239,295 (GRCm39) missense possibly damaging 0.89
R5001:Ptger2 UTSW 14 45,226,824 (GRCm39) missense probably damaging 1.00
R5438:Ptger2 UTSW 14 45,227,101 (GRCm39) missense possibly damaging 0.47
R5613:Ptger2 UTSW 14 45,226,960 (GRCm39) missense possibly damaging 0.88
R5767:Ptger2 UTSW 14 45,226,599 (GRCm39) missense probably benign 0.01
R7405:Ptger2 UTSW 14 45,226,531 (GRCm39) missense probably damaging 1.00
R9165:Ptger2 UTSW 14 45,227,235 (GRCm39) missense probably damaging 1.00
R9729:Ptger2 UTSW 14 45,226,476 (GRCm39) missense possibly damaging 0.73
Z1177:Ptger2 UTSW 14 45,226,478 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-12