Incidental Mutation 'IGL01975:Ptger1'
ID 182651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger1
Ensembl Gene ENSMUSG00000019464
Gene Name prostaglandin E receptor 1 (subtype EP1)
Synonyms Ptgerep1, 42kDa, EP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01975
Quality Score
Status
Chromosome 8
Chromosomal Location 84393307-84399382 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 84396149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000019577] [ENSMUST00000019608] [ENSMUST00000132945] [ENSMUST00000144258]
AlphaFold P35375
Predicted Effect probably benign
Transcript: ENSMUST00000005616
SMART Domains Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Hr1 37 101 6.74e-20 SMART
Hr1 126 194 1.13e-21 SMART
Hr1 216 284 7.79e-25 SMART
C2 328 464 2.45e-1 SMART
low complexity region 569 601 N/A INTRINSIC
S_TKc 619 878 2.83e-96 SMART
S_TK_X 879 943 5.29e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019577
SMART Domains Protein: ENSMUSP00000019577
Gene: ENSMUSG00000019433

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
low complexity region 47 58 N/A INTRINSIC
PDZ 141 215 9.07e-13 SMART
low complexity region 236 249 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000019608
AA Change: F402S
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: F402S

DomainStartEndE-ValueType
Pfam:7tm_1 52 354 2.3e-17 PFAM
low complexity region 356 372 N/A INTRINSIC
low complexity region 392 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128523
Predicted Effect probably benign
Transcript: ENSMUST00000132945
SMART Domains Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Hr1 49 113 6.74e-20 SMART
Hr1 138 206 1.13e-21 SMART
Hr1 228 296 7.79e-25 SMART
C2 340 476 2.45e-1 SMART
low complexity region 581 613 N/A INTRINSIC
Pfam:Pkinase 631 756 2.2e-23 PFAM
Pfam:Pkinase_Tyr 631 757 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146057
Predicted Effect probably benign
Transcript: ENSMUST00000144258
SMART Domains Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Hr1 42 106 6.74e-20 SMART
Hr1 131 199 1.13e-21 SMART
Hr1 221 289 7.79e-25 SMART
C2 333 469 2.45e-1 SMART
low complexity region 574 606 N/A INTRINSIC
S_TKc 624 883 2.83e-96 SMART
S_TK_X 884 948 5.29e-18 SMART
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). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may exhibit partial prenatal lethality, pain threshold abnormalities, behavioral disinhibition in response to stress, low blood pressure, defects in type IV hypersensitivity reactions, resistance to chemically induced tumors and impaired response to water deprivation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,217,396 (GRCm39) C133Y probably damaging Het
Akap3 G T 6: 126,850,963 (GRCm39) S827I probably damaging Het
Arhgap20 C T 9: 51,761,097 (GRCm39) Q947* probably null Het
Csf2rb2 A G 15: 78,173,086 (GRCm39) I258T probably benign Het
Egln2 T C 7: 26,859,745 (GRCm39) I323V possibly damaging Het
Erlin1 C A 19: 44,025,370 (GRCm39) G348V probably damaging Het
Fbxo38 C T 18: 62,648,484 (GRCm39) A685T probably damaging Het
Gm10272 G A 10: 77,542,608 (GRCm39) C50Y probably damaging Het
Gm11559 G T 11: 99,755,682 (GRCm39) Q110H unknown Het
Gpr75 T C 11: 30,841,835 (GRCm39) S247P probably benign Het
Grid1 A T 14: 35,045,383 (GRCm39) M409L probably benign Het
Herc3 A C 6: 58,893,561 (GRCm39) D941A possibly damaging Het
Ilf3 T A 9: 21,303,675 (GRCm39) S166T probably benign Het
Kcnu1 A C 8: 26,424,525 (GRCm39) E273D probably benign Het
Kdm8 A G 7: 125,051,529 (GRCm39) S41G probably benign Het
Ldlr G A 9: 21,644,993 (GRCm39) V174I probably benign Het
Lpar5 T C 6: 125,058,750 (GRCm39) L157P probably damaging Het
Mcrs1 A G 15: 99,141,559 (GRCm39) probably null Het
Ndst3 T A 3: 123,395,163 (GRCm39) Y489F possibly damaging Het
Or6c69c A G 10: 129,911,139 (GRCm39) I287V probably damaging Het
Palmd A T 3: 116,717,283 (GRCm39) S405T probably benign Het
Rbp3 A T 14: 33,680,602 (GRCm39) K1068M probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf20 T A 4: 49,654,473 (GRCm39) D843E probably benign Het
Rxfp1 A G 3: 79,567,385 (GRCm39) S322P possibly damaging Het
Slc22a8 T A 19: 8,582,775 (GRCm39) I152N probably damaging Het
Slc6a21 T A 7: 44,937,275 (GRCm39) D268E probably benign Het
Sstr1 A G 12: 58,260,412 (GRCm39) N345S probably benign Het
Stx17 T C 4: 48,180,670 (GRCm39) S172P probably damaging Het
Syne1 A G 10: 5,018,908 (GRCm39) probably benign Het
Tpte A G 8: 22,839,353 (GRCm39) T467A probably damaging Het
Trappc12 A G 12: 28,742,491 (GRCm39) probably null Het
Trav13-2 A T 14: 53,872,823 (GRCm39) T100S possibly damaging Het
Trip12 A G 1: 84,792,534 (GRCm39) probably benign Het
Wdr36 A G 18: 32,985,541 (GRCm39) H486R probably damaging Het
Zswim5 T C 4: 116,822,889 (GRCm39) I453T probably benign Het
Other mutations in Ptger1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02069:Ptger1 APN 8 84,396,086 (GRCm39) missense probably benign
G1citation:Ptger1 UTSW 8 84,395,279 (GRCm39) missense probably benign
R0042:Ptger1 UTSW 8 84,394,795 (GRCm39) missense probably benign 0.31
R0069:Ptger1 UTSW 8 84,394,948 (GRCm39) missense possibly damaging 0.91
R1694:Ptger1 UTSW 8 84,395,107 (GRCm39) missense probably benign 0.01
R1754:Ptger1 UTSW 8 84,395,926 (GRCm39) missense probably benign 0.34
R1858:Ptger1 UTSW 8 84,395,107 (GRCm39) missense probably benign 0.02
R1973:Ptger1 UTSW 8 84,396,083 (GRCm39) missense probably benign 0.13
R2217:Ptger1 UTSW 8 84,395,357 (GRCm39) missense probably benign 0.03
R5276:Ptger1 UTSW 8 84,395,974 (GRCm39) missense possibly damaging 0.56
R5569:Ptger1 UTSW 8 84,394,961 (GRCm39) splice site probably null
R6822:Ptger1 UTSW 8 84,395,279 (GRCm39) missense probably benign
R8474:Ptger1 UTSW 8 84,395,267 (GRCm39) missense probably benign
R8680:Ptger1 UTSW 8 84,394,654 (GRCm39) missense probably damaging 1.00
R9526:Ptger1 UTSW 8 84,396,002 (GRCm39) missense probably damaging 1.00
R9570:Ptger1 UTSW 8 84,395,461 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07