Incidental Mutation 'R5438:Ptger2'
ID 428489
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 043003-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5438 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 45225652-45241277 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45227101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 227 (H227L)
Ref Sequence ENSEMBL: ENSMUSP00000038483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046891]
AlphaFold Q62053
Predicted Effect possibly damaging
Transcript: ENSMUST00000046891
AA Change: H227L

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759
AA Change: H227L

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,538,165 (GRCm39) Q244K probably benign Het
Arpc2 T A 1: 74,275,995 (GRCm39) L4Q probably null Het
Atp7b C T 8: 22,504,570 (GRCm39) V581I probably benign Het
Bpifb9b T A 2: 154,151,288 (GRCm39) V3D possibly damaging Het
Capn13 A G 17: 73,633,479 (GRCm39) F525L probably benign Het
Cimip4 T C 15: 78,263,040 (GRCm39) T180A possibly damaging Het
Cmya5 G T 13: 93,231,707 (GRCm39) T1127K possibly damaging Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Cpd T A 11: 76,682,792 (GRCm39) I1076F possibly damaging Het
Elp4 A G 2: 105,734,748 (GRCm39) F29S probably damaging Het
Exosc10 T A 4: 148,650,799 (GRCm39) Y448* probably null Het
Fam219a A G 4: 41,520,302 (GRCm39) S149P probably damaging Het
Gdap2 A T 3: 100,085,629 (GRCm39) I184F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hvcn1 A G 5: 122,376,527 (GRCm39) K153R probably damaging Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Kcnn3 T A 3: 89,428,605 (GRCm39) L277Q probably damaging Het
Lama1 T A 17: 68,107,769 (GRCm39) S2128T possibly damaging Het
Ltbp1 T A 17: 75,598,321 (GRCm39) S919T probably damaging Het
Mgam A G 6: 40,661,455 (GRCm39) N1163S probably damaging Het
Mypn G T 10: 62,971,618 (GRCm39) C807* probably null Het
Or52n5 G A 7: 104,588,344 (GRCm39) V204I probably benign Het
Or5m8 T C 2: 85,822,925 (GRCm39) F255L probably damaging Het
Otud7a A G 7: 63,407,207 (GRCm39) N62S unknown Het
Pcdh18 A T 3: 49,710,465 (GRCm39) Y283* probably null Het
Slc24a5 A G 2: 124,910,785 (GRCm39) Y72C probably damaging Het
Slc35f2 T A 9: 53,708,302 (GRCm39) D98E probably benign Het
Smad1 A T 8: 80,082,949 (GRCm39) F184I probably benign Het
Sncg C T 14: 34,095,637 (GRCm39) V52I probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Zc3h11a C T 1: 133,568,385 (GRCm39) R88H probably damaging Het
Zfp141 A G 7: 42,138,894 (GRCm39) V46A probably damaging Het
Zfp472 T A 17: 33,197,193 (GRCm39) C423S probably damaging Het
Zfp729a A T 13: 67,767,705 (GRCm39) H841Q possibly damaging 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
R0533:Ptger2 UTSW 14 45,226,439 (GRCm39) missense possibly damaging 0.90
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
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 2016-09-01