Incidental Mutation 'R5276:Ptger1'
ID 403949
Institutional Source Beutler Lab
Gene Symbol Ptger1
Ensembl Gene ENSMUSG00000019464
Gene Name prostaglandin E receptor 1 (subtype EP1)
Synonyms Ptgerep1, 42kDa, EP1
MMRRC Submission 042863-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5276 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 84393307-84399382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84395974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 344 (S344A)
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 possibly damaging
Transcript: ENSMUST00000019608
AA Change: S344A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464
AA Change: S344A

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: ENSMUST00000146057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212519
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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,023,457 (GRCm39) F11S probably benign Het
Adipor2 T A 6: 119,334,182 (GRCm39) I343F probably damaging Het
Ahdc1 C T 4: 132,790,109 (GRCm39) P450L possibly damaging Het
Akna A C 4: 63,286,440 (GRCm39) V1353G possibly damaging Het
Baz2b G A 2: 59,792,958 (GRCm39) T390I probably benign Het
Btbd7 T C 12: 102,804,651 (GRCm39) K130E probably benign Het
Cdc42bpa A G 1: 179,965,415 (GRCm39) Y1101C probably damaging Het
Crlf2 T G 5: 109,705,501 (GRCm39) probably benign Het
Ddx59 A T 1: 136,347,186 (GRCm39) R281S probably damaging Het
Dgcr8 T G 16: 18,101,635 (GRCm39) T216P probably benign Het
Dsg4 A T 18: 20,579,896 (GRCm39) I34F probably benign Het
Enpp3 A G 10: 24,685,814 (GRCm39) S194P probably damaging Het
Entpd8 C T 2: 24,975,057 (GRCm39) R463W probably benign Het
Fam169a A G 13: 97,255,004 (GRCm39) T407A probably benign Het
Fam98b G T 2: 117,089,779 (GRCm39) V99F possibly damaging Het
Foxn3 T A 12: 99,162,687 (GRCm39) K405* probably null Het
Gsdmc T C 15: 63,673,806 (GRCm39) T160A probably benign Het
Hdac1 T C 4: 129,422,716 (GRCm39) probably null Het
Igfbp1 A C 11: 7,151,892 (GRCm39) T232P probably damaging Het
Lcor T A 19: 41,573,478 (GRCm39) H744Q probably damaging Het
Mertk G C 2: 128,643,234 (GRCm39) G878R possibly damaging Het
Metap2 G T 10: 93,704,784 (GRCm39) P281H possibly damaging Het
Metap2 T A 10: 93,704,794 (GRCm39) T278S probably benign Het
Mfn1 T C 3: 32,618,354 (GRCm39) V169A probably benign Het
Mms22l A G 4: 24,578,774 (GRCm39) D751G probably damaging Het
Mpl A G 4: 118,312,918 (GRCm39) V138A probably benign Het
Myef2 T A 2: 124,937,641 (GRCm39) K533N probably damaging Het
Mylk3 C T 8: 86,082,071 (GRCm39) G309E probably damaging Het
Nid1 T C 13: 13,643,157 (GRCm39) V365A probably damaging Het
Or4d2 A T 11: 87,784,018 (GRCm39) I244N probably damaging Het
Or5p57 A T 7: 107,665,423 (GRCm39) L164* probably null Het
Or7d10 C A 9: 19,831,917 (GRCm39) N137K possibly damaging Het
Or8g19 T C 9: 39,055,611 (GRCm39) C72R probably damaging Het
Pbrm1 A G 14: 30,828,141 (GRCm39) K1323E probably damaging Het
Pcdhga12 G A 18: 37,899,728 (GRCm39) D187N possibly damaging Het
Phrf1 T C 7: 140,839,196 (GRCm39) probably benign Het
Phtf2 A G 5: 20,977,195 (GRCm39) V608A probably benign Het
Plec G A 15: 76,057,638 (GRCm39) R4122W probably damaging Het
Polm A G 11: 5,779,393 (GRCm39) S441P probably benign Het
Prrc2b T A 2: 32,104,734 (GRCm39) V1404E probably benign Het
Rasef A T 4: 73,654,004 (GRCm39) D401E probably null Het
Rbfox3 T C 11: 118,387,178 (GRCm39) Y312C probably damaging Het
Rbm48 A G 5: 3,634,759 (GRCm39) C402R probably benign Het
Rhbdl3 G A 11: 80,210,492 (GRCm39) A82T probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sidt2 T A 9: 45,866,075 (GRCm39) N44Y probably damaging Het
Slf2 T A 19: 44,923,600 (GRCm39) L138Q possibly damaging Het
Spag16 T C 1: 69,935,742 (GRCm39) probably null Het
Sspo C T 6: 48,467,401 (GRCm39) P4188S probably damaging Het
Synm C T 7: 67,384,437 (GRCm39) S1075N probably benign Het
Tacc2 G T 7: 130,331,047 (GRCm39) D2151Y probably damaging Het
Tbc1d32 C A 10: 56,027,914 (GRCm39) L729F probably damaging Het
Tnfsf4 A G 1: 161,244,584 (GRCm39) N91S possibly damaging Het
Trim63 G A 4: 134,050,444 (GRCm39) E243K probably benign Het
Trim72 T G 7: 127,603,714 (GRCm39) L20R probably damaging Het
Tubb1 A G 2: 174,299,217 (GRCm39) M300V probably damaging Het
Ubfd1 C T 7: 121,668,091 (GRCm39) A207V probably damaging Het
Usp16 T A 16: 87,267,339 (GRCm39) probably null Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging Het
Vmn2r72 T A 7: 85,387,462 (GRCm39) I701F possibly damaging Het
Wdfy4 A G 14: 32,769,232 (GRCm39) Y2078H probably damaging Het
Wdr41 T C 13: 95,153,958 (GRCm39) probably null Het
Zfp955b A G 17: 33,522,031 (GRCm39) Y500C 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
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
Predicted Primers PCR Primer
(F):5'- CGCAATCTCTGATGACCTTTGC -3'
(R):5'- TGACTGAAACCACTGTGCCG -3'

Sequencing Primer
(F):5'- CACAGATCCTATTTGTCCTGCATGG -3'
(R):5'- CCGGGAACTACGCAGTGAAC -3'
Posted On 2016-07-22