Incidental Mutation 'R6822:Ptger1'
ID 537672
Institutional Source Beutler Lab
Gene Symbol Ptger1
Ensembl Gene ENSMUSG00000019464
Gene Name prostaglandin E receptor 1 (subtype EP1)
Synonyms Ptgerep1, 42kDa, EP1
MMRRC Submission 044934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6822 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 84393307-84399382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84395279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 252 (D252G)
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: D252G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: D252G

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 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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 G A 11: 102,667,501 (GRCm39) R687Q possibly damaging Het
AI987944 A G 7: 41,024,232 (GRCm39) L249P probably damaging Het
Ankrd28 T A 14: 31,458,797 (GRCm39) probably null Het
Bahcc1 T C 11: 120,178,547 (GRCm39) S2369P probably damaging Het
Birc6 T C 17: 74,887,377 (GRCm39) S902P possibly damaging Het
Birc6 A T 17: 74,905,039 (GRCm39) K1277N probably damaging Het
Brwd1 T C 16: 95,842,474 (GRCm39) E821G probably benign Het
Cct8l1 T C 5: 25,722,937 (GRCm39) S551P possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cyp2c39 A T 19: 39,525,261 (GRCm39) D188V probably damaging Het
Dclk3 G T 9: 111,268,405 (GRCm39) A25S probably benign Het
Dpep2 A T 8: 106,711,873 (GRCm39) M518K probably benign Het
Dst T C 1: 34,314,755 (GRCm39) V6462A probably damaging Het
Entpd3 T C 9: 120,391,104 (GRCm39) probably null Het
Epm2aip1 T C 9: 111,101,624 (GRCm39) V199A probably damaging Het
Fam193b A G 13: 55,689,504 (GRCm39) probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fcgbp T A 7: 27,806,781 (GRCm39) Y2250N probably damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
H2-Aa C T 17: 34,506,651 (GRCm39) probably null Het
Igsf9 T A 1: 172,324,730 (GRCm39) S883T possibly damaging Het
Kcnh7 T G 2: 62,618,248 (GRCm39) I414L probably damaging Het
Kcnma1 T C 14: 24,053,812 (GRCm39) probably null Het
Kcnmb1 T C 11: 33,914,686 (GRCm39) probably benign Het
Kmt2d A G 15: 98,747,340 (GRCm39) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Map3k13 G A 16: 21,741,013 (GRCm39) S780N probably benign Het
Nlgn1 T C 3: 26,187,796 (GRCm39) T30A probably benign Het
Nucb1 A G 7: 45,148,289 (GRCm39) F175L probably damaging Het
Pax6 T A 2: 105,516,268 (GRCm39) V182E probably benign Het
Rexo4 T C 2: 26,850,283 (GRCm39) D275G probably damaging Het
Ripk4 T C 16: 97,547,236 (GRCm39) D342G probably damaging Het
Rpl10l A T 12: 66,330,987 (GRCm39) C49S possibly damaging Het
Sema7a T C 9: 57,867,619 (GRCm39) F457S probably damaging Het
Shank3 G A 15: 89,415,830 (GRCm39) D155N probably damaging Het
Smpd3 G A 8: 106,992,596 (GRCm39) probably benign Het
Smpd4 T C 16: 17,458,097 (GRCm39) V465A probably damaging Het
Sohlh2 T C 3: 55,115,107 (GRCm39) V364A probably damaging Het
Sos2 C T 12: 69,697,423 (GRCm39) R99Q probably damaging Het
Spry2 G A 14: 106,130,791 (GRCm39) Q132* probably null Het
Tbx19 G T 1: 164,967,709 (GRCm39) P346Q probably damaging Het
Tdrd6 A G 17: 43,938,106 (GRCm39) Y981H probably damaging Het
Tinag T C 9: 76,938,984 (GRCm39) K165E probably benign Het
Tubb4a A T 17: 57,387,904 (GRCm39) I374N probably damaging Het
Umodl1 C T 17: 31,205,528 (GRCm39) Q708* probably null Het
Vmn2r3 A T 3: 64,194,876 (GRCm39) V14E probably benign Het
Zfp82 G A 7: 29,755,712 (GRCm39) L457F probably damaging Het
Other mutations in Ptger1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Ptger1 APN 8 84,396,149 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTACAGTACCCTGGCACCTG -3'
(R):5'- AAGGCTTGAGTGTGTGAGAC -3'

Sequencing Primer
(F):5'- GCACCTGGTGTTTTATTAGCC -3'
(R):5'- GTGTGTGAGACTATTTACAGAGATCC -3'
Posted On 2018-10-18