Incidental Mutation 'IGL00490:Ptger2'
ID4210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger2
Ensembl Gene ENSMUSG00000037759
Gene Nameprostaglandin E receptor 2 (subtype EP2)
SynonymsEP2 receptor, Ptgerep2, EP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00490
Quality Score
Status
Chromosome14
Chromosomal Location44988195-45003820 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 45001741 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046891]
Predicted Effect probably benign
Transcript: ENSMUST00000046891
SMART Domains Protein: ENSMUSP00000038483
Gene: ENSMUSG00000037759

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
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Fam210a G T 18: 68,268,912 T210N probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Thg1l T C 11: 45,954,221 E8G probably benign Het
Tmem236 A G 2: 14,219,378 Y326C probably damaging Het
Trip4 C T 9: 65,833,410 G573R probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Ptger2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03127:Ptger2 APN 14 45002005 utr 3 prime probably benign
R0533:Ptger2 UTSW 14 44988982 missense possibly damaging 0.90
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
Posted On2012-04-20