Incidental Mutation 'R0533:Ptger2'
ID49341
Institutional Source Beutler Lab
Gene Symbol Ptger2
Ensembl Gene ENSMUSG00000037759
Gene Nameprostaglandin E receptor 2 (subtype EP2)
SynonymsEP2 receptor, Ptgerep2, EP2
MMRRC Submission 038725-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0533 (G1)
Quality Score151
Status Validated
Chromosome14
Chromosomal Location44988195-45003820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 44988982 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 6 (N6K)
Ref Sequence ENSEMBL: ENSMUSP00000038483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046891]
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

DomainStartEndE-ValueType
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: 60,531,763 probably benign Het
Abcb1b A T 5: 8,864,113 probably null Het
Adcy10 A G 1: 165,564,023 N1283S probably benign Het
Adgrb1 T A 15: 74,541,559 W531R probably damaging Het
Ago4 A G 4: 126,516,860 V246A probably benign Het
Arid5b A T 10: 68,186,033 D242E probably damaging Het
Arpp21 A G 9: 112,126,505 V522A probably benign Het
Atg4b T A 1: 93,784,910 probably benign Het
Capn12 T C 7: 28,887,683 F359S possibly damaging Het
Ccdc88c A T 12: 100,954,282 I360N probably damaging Het
Clic3 A G 2: 25,458,138 Y99C probably damaging Het
Cux1 T C 5: 136,307,859 E925G probably damaging Het
Dnah10 G A 5: 124,775,250 probably null Het
Dnah17 A G 11: 118,110,537 V860A possibly damaging Het
Etv5 C T 16: 22,436,075 probably benign Het
Fam83a T A 15: 58,009,811 N345K probably benign Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gm13089 G T 4: 143,698,020 C284* probably null Het
Gpm6a A G 8: 55,055,374 probably null Het
Grid1 T A 14: 35,309,385 Y312N possibly damaging Het
Gstm4 T C 3: 108,043,525 N51S probably benign Het
Hid1 A T 11: 115,348,809 I765N probably damaging Het
Hmmr A G 11: 40,709,989 V518A unknown Het
Itgb6 A G 2: 60,669,197 V84A probably benign Het
Kbtbd4 A G 2: 90,907,604 K233E probably benign Het
Kif15 A T 9: 123,009,433 probably benign Het
Klre1 T C 6: 129,583,193 S143P probably damaging Het
Krt81 T C 15: 101,461,389 D216G probably benign Het
Mctp2 G T 7: 72,080,822 H868Q probably benign Het
Morc2b G C 17: 33,135,932 Y955* probably null Het
Myog A C 1: 134,290,473 N140H possibly damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Neil3 A T 8: 53,638,775 probably null Het
Nrg1 T C 8: 31,831,245 probably null Het
Olfr681 G A 7: 105,122,350 V298I probably benign Het
Olfr689 A T 7: 105,314,372 M123L probably benign Het
Olfr99 A T 17: 37,280,291 L43* probably null Het
Pramef25 A T 4: 143,950,720 D96E possibly damaging Het
Ryr1 T A 7: 29,078,780 E2097V probably damaging Het
Sel1l A T 12: 91,820,094 F397Y probably damaging Het
Skint5 A G 4: 113,827,867 V551A unknown Het
Slc39a12 A G 2: 14,400,331 T245A probably benign Het
Syne1 C T 10: 5,358,438 V706I probably benign Het
Tbc1d8 G T 1: 39,372,774 Q994K possibly damaging Het
Tnrc6b C T 15: 80,876,653 T187I probably benign Het
Ttll6 G A 11: 96,154,756 A600T probably benign Het
Ust T C 10: 8,248,080 probably benign Het
Vmn2r71 GT GTT 7: 85,619,218 probably null Het
Vstm2a C T 11: 16,263,041 A142V probably damaging Het
Wfs1 T A 5: 36,973,722 probably benign Het
Wrap73 G A 4: 154,151,649 G145D probably damaging Het
Wrap73 G A 4: 154,156,154 V368M possibly damaging Het
Xrra1 T A 7: 99,875,145 probably null Het
Zfhx2 C T 14: 55,064,090 V2146I probably benign Het
Zfp335 A T 2: 164,907,922 L185* probably null Het
Other mutations in Ptger2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Ptger2 APN 14 45001741 splice site probably benign
IGL03127:Ptger2 APN 14 45002005 utr 3 prime probably benign
R0720:Ptger2 UTSW 14 44989133 missense probably benign
R0973:Ptger2 UTSW 14 44989500 missense probably damaging 1.00
R1643:Ptger2 UTSW 14 44988966 start codon destroyed probably null 0.98
R1737:Ptger2 UTSW 14 45001771 missense probably benign 0.04
R2281:Ptger2 UTSW 14 44989650 missense probably damaging 1.00
R3846:Ptger2 UTSW 14 44989327 missense probably damaging 1.00
R4623:Ptger2 UTSW 14 44989014 missense possibly damaging 0.91
R4735:Ptger2 UTSW 14 45001838 missense possibly damaging 0.89
R5001:Ptger2 UTSW 14 44989367 missense probably damaging 1.00
R5438:Ptger2 UTSW 14 44989644 missense possibly damaging 0.47
R5613:Ptger2 UTSW 14 44989503 missense possibly damaging 0.88
R5767:Ptger2 UTSW 14 44989142 missense probably benign 0.01
R7405:Ptger2 UTSW 14 44989074 missense probably damaging 1.00
Z1177:Ptger2 UTSW 14 44989021 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGGAGACCCAAACAAGTCTGTC -3'
(R):5'- TCAGTGAGCACCAATTCCGTTACC -3'

Sequencing Primer
(F):5'- CAAACAAGTCTGTCCTTGGTG -3'
(R):5'- AGGAGATAGAGGTCCTGCTGC -3'
Posted On2013-06-12