Incidental Mutation 'IGL03245:Ptger4'
ID414377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger4
Ensembl Gene ENSMUSG00000039942
Gene Nameprostaglandin E receptor 4 (subtype EP4)
SynonymsEP4, Ptgerep4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL03245
Quality Score
Status
Chromosome15
Chromosomal Location5206661-5244187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5235107 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 331 (I331N)
Ref Sequence ENSEMBL: ENSMUSP00000112858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047379] [ENSMUST00000120563]
Predicted Effect probably damaging
Transcript: ENSMUST00000047379
AA Change: I356N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: I356N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 50 258 1.3e-7 PFAM
Pfam:7tm_1 59 357 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120563
AA Change: I331N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: I331N

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 25 233 1.9e-7 PFAM
Pfam:7tm_1 34 332 8.5e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133966
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous targeted null mutants die shortly after birth due to failed closure of the ductus arteriosis. Survivors show decreased migration of Langerhans cells to lymph nodes, contact hypersensitivity and decreased incidence of induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 C T 7: 75,609,752 A708V probably damaging Het
Cdh3 A G 8: 106,552,999 N749S probably damaging Het
Col3a1 G A 1: 45,331,109 probably benign Het
Csmd2 T A 4: 128,509,122 S2334R probably benign Het
Cubn T C 2: 13,355,689 T1741A probably benign Het
Cuedc1 T C 11: 88,177,262 probably benign Het
Cutc T C 19: 43,768,182 S228P possibly damaging Het
Dnmt1 G T 9: 20,915,760 N1013K probably damaging Het
Dst G T 1: 34,211,148 probably null Het
Lamc2 A T 1: 153,133,757 probably null Het
Mettl25 T C 10: 105,826,497 N204S possibly damaging Het
Micall2 G A 5: 139,719,259 H107Y probably damaging Het
Olfr1155 T A 2: 87,942,742 R295S possibly damaging Het
Olfr461 A G 6: 40,544,142 V279A probably damaging Het
Olfr945 T A 9: 39,257,998 I225F probably damaging Het
Rad54l2 A G 9: 106,703,628 F898S probably damaging Het
Smr2 A G 5: 88,108,850 N129S probably benign Het
Tmeff2 T C 1: 51,181,817 F317S probably benign Het
Trpm6 A T 19: 18,877,701 E1908V probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Xpo7 T A 14: 70,688,294 D436V probably damaging Het
Zfp804b C A 5: 6,772,253 S234I possibly damaging Het
Other mutations in Ptger4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Ptger4 APN 15 5243133 missense probably benign 0.00
IGL00848:Ptger4 APN 15 5235108 missense probably benign 0.16
IGL01309:Ptger4 APN 15 5242758 missense probably damaging 1.00
IGL02083:Ptger4 APN 15 5243174 missense probably benign 0.00
R0369:Ptger4 UTSW 15 5243010 missense probably benign 0.06
R0427:Ptger4 UTSW 15 5242901 missense probably benign 0.25
R1399:Ptger4 UTSW 15 5234931 missense possibly damaging 0.81
R1778:Ptger4 UTSW 15 5235095 missense probably damaging 1.00
R1801:Ptger4 UTSW 15 5242800 missense possibly damaging 0.95
R2089:Ptger4 UTSW 15 5242845 missense possibly damaging 0.80
R2091:Ptger4 UTSW 15 5242845 missense possibly damaging 0.80
R2091:Ptger4 UTSW 15 5242845 missense possibly damaging 0.80
R2484:Ptger4 UTSW 15 5235173 missense probably benign 0.06
R2873:Ptger4 UTSW 15 5234805 missense probably benign 0.02
R4515:Ptger4 UTSW 15 5242379 missense probably damaging 1.00
R4572:Ptger4 UTSW 15 5243133 missense probably benign 0.00
R4655:Ptger4 UTSW 15 5243064 missense probably benign 0.06
R4860:Ptger4 UTSW 15 5242606 missense probably benign 0.02
R4860:Ptger4 UTSW 15 5242606 missense probably benign 0.02
R6429:Ptger4 UTSW 15 5242997 missense possibly damaging 0.76
R6960:Ptger4 UTSW 15 5234715 missense probably benign
Posted On2016-08-02