Incidental Mutation 'IGL02069:Ptger1'
ID 185742
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 # IGL02069
Quality Score
Status
Chromosome 8
Chromosomal Location 84393307-84399382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84396086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 381 (E381G)
Ref Sequence ENSEMBL: ENSMUSP00000019608 (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 probably benign
Transcript: ENSMUST00000019608
AA Change: E381G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: E381G

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: ENSMUST00000146057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138898
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,742,500 (GRCm39) V569M possibly damaging Het
Alms1 T C 6: 85,605,805 (GRCm39) V2016A probably benign Het
Apcdd1 T A 18: 63,083,054 (GRCm39) W295R probably damaging Het
Arid5b T A 10: 67,933,229 (GRCm39) D648V probably damaging Het
C2cd6 A G 1: 59,091,700 (GRCm39) probably benign Het
Cst12 A T 2: 148,634,368 (GRCm39) D101V probably damaging Het
Cyp46a1 T A 12: 108,312,394 (GRCm39) Y135N probably benign Het
D630045J12Rik T C 6: 38,161,007 (GRCm39) S1046G probably damaging Het
Dhtkd1 A T 2: 5,935,745 (GRCm39) Y122* probably null Het
Disp2 T A 2: 118,621,161 (GRCm39) I631N possibly damaging Het
Dna2 A G 10: 62,794,773 (GRCm39) I387V probably benign Het
Dnah7a A T 1: 53,601,053 (GRCm39) probably benign Het
Eif2ak3 T C 6: 70,873,949 (GRCm39) F954S probably damaging Het
Elp1 C T 4: 56,779,731 (GRCm39) G560D probably benign Het
Fancm C A 12: 65,122,685 (GRCm39) A69D probably benign Het
Fbxo34 T A 14: 47,767,070 (GRCm39) D143E probably damaging Het
Fchsd1 G A 18: 38,100,667 (GRCm39) R144* probably null Het
Fip1l1 A G 5: 74,752,534 (GRCm39) D402G probably damaging Het
Frem1 A G 4: 82,821,788 (GRCm39) S2107P probably damaging Het
Gm1527 A G 3: 28,980,763 (GRCm39) N621S possibly damaging Het
Hddc2 G A 10: 31,192,314 (GRCm39) D54N probably damaging Het
Ighm T A 12: 113,384,768 (GRCm39) probably benign Het
Il17d G T 14: 57,779,972 (GRCm39) E165* probably null Het
Kmt5b A T 19: 3,857,335 (GRCm39) K364M probably damaging Het
Ldb1 C A 19: 46,021,617 (GRCm39) W390L possibly damaging Het
Lgmn T C 12: 102,370,558 (GRCm39) E124G possibly damaging Het
Mroh2b A G 15: 4,933,806 (GRCm39) probably benign Het
Pga5 C T 19: 10,646,763 (GRCm39) G323S possibly damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Polr2b A G 5: 77,491,044 (GRCm39) T962A probably benign Het
Sec24a A T 11: 51,624,761 (GRCm39) probably benign Het
Serpine2 T A 1: 79,799,129 (GRCm39) I42F possibly damaging Het
Sh3tc1 C T 5: 35,876,339 (GRCm39) R122Q probably benign Het
Slc15a2 T C 16: 36,579,613 (GRCm39) I347V probably benign Het
Snx4 T C 16: 33,084,725 (GRCm39) Y80H probably damaging Het
Spata16 C A 3: 26,786,944 (GRCm39) C207* probably null Het
Syne2 A G 12: 75,974,186 (GRCm39) Q1128R probably benign Het
Tamalin A G 15: 101,122,346 (GRCm39) Y55C probably damaging Het
Trpm4 T A 7: 44,968,718 (GRCm39) N405I probably damaging Het
Upp2 A G 2: 58,661,429 (GRCm39) probably benign Het
Other mutations in Ptger1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Ptger1 APN 8 84,396,149 (GRCm39) unclassified 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