Incidental Mutation 'IGL00562:Ptger4'
ID 13209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger4
Ensembl Gene ENSMUSG00000039942
Gene Name prostaglandin E receptor 4 (subtype EP4)
Synonyms Ptgerep4, EP4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL00562
Quality Score
Status
Chromosome 15
Chromosomal Location 5262880-5273668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5272614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2 (S2T)
Ref Sequence ENSEMBL: ENSMUSP00000112858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047379] [ENSMUST00000120563]
AlphaFold P32240
Predicted Effect probably benign
Transcript: ENSMUST00000047379
AA Change: S27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048736
Gene: ENSMUSG00000039942
AA Change: S27T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 50 258 1.3e-7 PFAM
Pfam:7tm_1 59 357 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120563
AA Change: S2T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112858
Gene: ENSMUSG00000039942
AA Change: S2T

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 25,202,619 (GRCm39) probably benign Het
AU016765 C A 17: 64,826,877 (GRCm39) noncoding transcript Het
Chaf1b T C 16: 93,697,079 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,505 (GRCm39) probably benign Het
Crip1 T A 12: 113,117,232 (GRCm39) probably null Het
Cubn A G 2: 13,299,041 (GRCm39) S3211P probably benign Het
Dlx6 C T 6: 6,865,143 (GRCm39) R172W probably damaging Het
Fktn A T 4: 53,747,007 (GRCm39) probably null Het
Focad T A 4: 88,267,046 (GRCm39) M1019K unknown Het
Fuca2 A T 10: 13,381,651 (GRCm39) D188V probably damaging Het
Kcna3 A G 3: 106,944,046 (GRCm39) D103G probably damaging Het
Mrpl19 A G 6: 81,942,853 (GRCm39) V19A probably benign Het
Ndufb3 T A 1: 58,634,958 (GRCm39) H103Q possibly damaging Het
Pkd1l3 T C 8: 110,382,779 (GRCm39) V1675A possibly damaging Het
Saxo1 C T 4: 86,363,809 (GRCm39) E225K probably damaging Het
Sftpb G T 6: 72,286,845 (GRCm39) A228S probably benign Het
Slc22a29 T A 19: 8,138,993 (GRCm39) T490S probably benign Het
Slc29a1 T C 17: 45,900,918 (GRCm39) N50S probably damaging Het
Smc6 T A 12: 11,351,532 (GRCm39) S854T probably benign Het
Smim23 T C 11: 32,771,893 (GRCm39) T58A probably benign Het
Tas2r134 T C 2: 51,518,100 (GRCm39) I193T possibly damaging Het
Thsd7a G T 6: 12,379,658 (GRCm39) probably null Het
Trav13n-4 T G 14: 53,601,423 (GRCm39) V64G possibly damaging Het
Trmt10a G A 3: 137,853,177 (GRCm39) E13K probably damaging Het
Txndc11 T C 16: 10,922,496 (GRCm39) S239G probably damaging Het
Vmn2r96 T A 17: 18,804,077 (GRCm39) N442K probably benign Het
Vps13a C T 19: 16,712,078 (GRCm39) probably null Het
Other mutations in Ptger4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Ptger4 APN 15 5,264,589 (GRCm39) missense probably benign 0.16
IGL01309:Ptger4 APN 15 5,272,239 (GRCm39) missense probably damaging 1.00
IGL02083:Ptger4 APN 15 5,272,655 (GRCm39) missense probably benign 0.00
IGL03245:Ptger4 APN 15 5,264,588 (GRCm39) missense probably damaging 1.00
R0369:Ptger4 UTSW 15 5,272,491 (GRCm39) missense probably benign 0.06
R0427:Ptger4 UTSW 15 5,272,382 (GRCm39) missense probably benign 0.25
R1399:Ptger4 UTSW 15 5,264,412 (GRCm39) missense possibly damaging 0.81
R1778:Ptger4 UTSW 15 5,264,576 (GRCm39) missense probably damaging 1.00
R1801:Ptger4 UTSW 15 5,272,281 (GRCm39) missense possibly damaging 0.95
R2089:Ptger4 UTSW 15 5,272,326 (GRCm39) missense possibly damaging 0.80
R2091:Ptger4 UTSW 15 5,272,326 (GRCm39) missense possibly damaging 0.80
R2091:Ptger4 UTSW 15 5,272,326 (GRCm39) missense possibly damaging 0.80
R2484:Ptger4 UTSW 15 5,264,654 (GRCm39) missense probably benign 0.06
R2873:Ptger4 UTSW 15 5,264,286 (GRCm39) missense probably benign 0.02
R4515:Ptger4 UTSW 15 5,271,860 (GRCm39) missense probably damaging 1.00
R4572:Ptger4 UTSW 15 5,272,614 (GRCm39) missense probably benign 0.00
R4655:Ptger4 UTSW 15 5,272,545 (GRCm39) missense probably benign 0.06
R4860:Ptger4 UTSW 15 5,272,087 (GRCm39) missense probably benign 0.02
R4860:Ptger4 UTSW 15 5,272,087 (GRCm39) missense probably benign 0.02
R6429:Ptger4 UTSW 15 5,272,478 (GRCm39) missense possibly damaging 0.76
R6960:Ptger4 UTSW 15 5,264,196 (GRCm39) missense probably benign
R7992:Ptger4 UTSW 15 5,264,381 (GRCm39) missense probably damaging 0.99
R8471:Ptger4 UTSW 15 5,271,800 (GRCm39) missense probably damaging 1.00
R8768:Ptger4 UTSW 15 5,272,138 (GRCm39) missense probably benign 0.00
R9245:Ptger4 UTSW 15 5,273,193 (GRCm39) start gained probably benign
R9638:Ptger4 UTSW 15 5,264,693 (GRCm39) missense probably damaging 1.00
R9790:Ptger4 UTSW 15 5,273,178 (GRCm39) start codon destroyed probably null 0.00
R9791:Ptger4 UTSW 15 5,273,178 (GRCm39) start codon destroyed probably null 0.00
Posted On 2012-12-06