Incidental Mutation 'R2437:Ptger3'
ID 249639
Institutional Source Beutler Lab
Gene Symbol Ptger3
Ensembl Gene ENSMUSG00000040016
Gene Name prostaglandin E receptor 3 (subtype EP3)
Synonyms Ptgerep3, EP3, Pgerep3
MMRRC Submission 040398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2437 (G1)
Quality Score 111
Status Validated
Chromosome 3
Chromosomal Location 157272459-157350392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157273207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 185 (C185S)
Ref Sequence ENSEMBL: ENSMUSP00000134137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041175] [ENSMUST00000173533]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041175
AA Change: C185S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043302
Gene: ENSMUSG00000040016
AA Change: C185S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srbc 25 171 6e-8 PFAM
Pfam:7tm_1 42 323 9.5e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173533
AA Change: C185S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134137
Gene: ENSMUSG00000040016
AA Change: C185S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srbc 25 171 4.1e-8 PFAM
Pfam:7tm_1 42 323 1.5e-23 PFAM
low complexity region 345 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196682
Meta Mutation Damage Score 0.9668 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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 may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased basal renal blood flow, decreased resting renal vascular resistance, impaired duodenal bicarbonate secretion and mucosal integrity, and impaired responses to endotoxin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,031,075 (GRCm39) *635W probably null Het
Anxa2 A G 9: 69,397,046 (GRCm39) Y317C probably damaging Het
Arhgef26 T C 3: 62,340,002 (GRCm39) S675P probably damaging Het
Bltp1 T A 3: 37,012,834 (GRCm39) probably null Het
Camk2d A G 3: 126,628,277 (GRCm39) N53S probably damaging Het
Carns1 A T 19: 4,215,782 (GRCm39) M800K possibly damaging Het
Ces1f A T 8: 93,996,767 (GRCm39) probably null Het
Chrne T A 11: 70,506,086 (GRCm39) D426V possibly damaging Het
Cntfr T C 4: 41,671,035 (GRCm39) T43A probably damaging Het
Cntn5 A T 9: 10,048,758 (GRCm39) C63* probably null Het
Col12a1 G A 9: 79,599,501 (GRCm39) T884I probably damaging Het
Dnah5 T C 15: 28,307,537 (GRCm39) probably null Het
Dnajc2 A T 5: 21,965,389 (GRCm39) S537R probably benign Het
Dnajc25 T C 4: 59,020,234 (GRCm39) I100T probably damaging Het
Ephx1 C A 1: 180,823,661 (GRCm39) G149C probably damaging Het
Fam163b G T 2: 27,002,698 (GRCm39) P100T probably damaging Het
Fbxl9 A G 8: 106,039,675 (GRCm39) probably null Het
Fgd5 A T 6: 92,039,850 (GRCm39) R1017* probably null Het
Fibin A T 2: 110,192,848 (GRCm39) L98Q probably damaging Het
Fndc3b A T 3: 27,505,481 (GRCm39) L929H probably damaging Het
Frem1 T A 4: 82,918,410 (GRCm39) S512C probably damaging Het
Gm4922 T A 10: 18,659,829 (GRCm39) M298L probably benign Het
Gstm2 G A 3: 107,891,369 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,317,042 (GRCm39) probably null Het
Ibtk A C 9: 85,590,178 (GRCm39) L1026V probably benign Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Inpp4a T C 1: 37,432,037 (GRCm39) S146P probably damaging Het
Kcnab1 G T 3: 65,264,435 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,436 (GRCm39) S217P probably damaging Het
Mr1 T C 1: 155,008,277 (GRCm39) M233V probably benign Het
Ncoa2 G A 1: 13,218,584 (GRCm39) T1415I probably damaging Het
Oasl2 G A 5: 115,049,357 (GRCm39) D486N probably benign Het
Or1j14 A T 2: 36,418,258 (GRCm39) Y278F probably damaging Het
Or9a7 G A 6: 40,521,856 (GRCm39) T19I probably benign Het
Or9s27 T C 1: 92,516,688 (GRCm39) I212T possibly damaging Het
Pcnx4 T C 12: 72,588,587 (GRCm39) F132L probably damaging Het
Pde5a T A 3: 122,636,702 (GRCm39) L717Q probably damaging Het
Peli2 A T 14: 48,465,389 (GRCm39) probably benign Het
Phf14 A G 6: 11,962,657 (GRCm39) S435G probably damaging Het
Plekhg1 T A 10: 3,913,564 (GRCm39) H1095Q probably damaging Het
Plekhh2 A G 17: 84,893,907 (GRCm39) probably null Het
Plekho1 T G 3: 95,899,497 (GRCm39) N99H probably damaging Het
Plxnc1 T A 10: 94,742,395 (GRCm39) K457N probably benign Het
Ppp1r3a T C 6: 14,718,322 (GRCm39) E864G probably benign Het
Prkab2 T A 3: 97,574,715 (GRCm39) L237Q probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprk T C 10: 28,230,709 (GRCm39) Y267H probably damaging Het
Pum2 A G 12: 8,794,654 (GRCm39) I715V probably benign Het
R3hdm1 T C 1: 128,114,573 (GRCm39) V518A probably damaging Het
Rab3d T C 9: 21,827,147 (GRCm39) I28V probably damaging Het
Rad54b T C 4: 11,606,272 (GRCm39) L560P probably damaging Het
Rgs20 A G 1: 5,140,370 (GRCm39) probably null Het
Sesn1 T A 10: 41,781,315 (GRCm39) L460H probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Slco6c1 T A 1: 96,990,201 (GRCm39) H663L probably benign Het
Snx13 T A 12: 35,132,926 (GRCm39) C63S probably benign Het
Spmip4 T A 6: 50,560,959 (GRCm39) D212V probably damaging Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Syncrip A G 9: 88,361,620 (GRCm39) probably benign Het
Taf15 A G 11: 83,395,579 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,444,368 (GRCm39) probably null Het
Tgm4 T A 9: 122,877,614 (GRCm39) C205* probably null Het
Tmem212 A T 3: 27,940,628 (GRCm39) L63Q possibly damaging Het
Tmem63a G A 1: 180,790,054 (GRCm39) probably null Het
Trpm5 C A 7: 142,636,298 (GRCm39) V525L probably benign Het
Ttn A G 2: 76,537,171 (GRCm39) L34919P probably damaging Het
Ttn T C 2: 76,694,619 (GRCm39) probably benign Het
Tuba4a T C 1: 75,194,069 (GRCm39) I4V possibly damaging Het
Ubr4 A G 4: 139,200,853 (GRCm39) D4679G possibly damaging Het
Usp2 T G 9: 44,003,445 (GRCm39) V448G probably damaging Het
Usp3 A G 9: 66,453,024 (GRCm39) probably null Het
Zfp341 T A 2: 154,470,721 (GRCm39) V246E probably damaging Het
Other mutations in Ptger3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02389:Ptger3 APN 3 157,272,808 (GRCm39) missense probably damaging 1.00
R1371:Ptger3 UTSW 3 157,273,365 (GRCm39) nonsense probably null
R4616:Ptger3 UTSW 3 157,272,931 (GRCm39) missense probably damaging 1.00
R6526:Ptger3 UTSW 3 157,273,139 (GRCm39) missense probably damaging 0.99
R7360:Ptger3 UTSW 3 157,272,764 (GRCm39) missense probably benign 0.18
R7571:Ptger3 UTSW 3 157,347,412 (GRCm39) missense probably benign 0.01
R8433:Ptger3 UTSW 3 157,349,592 (GRCm39) makesense probably null
R8829:Ptger3 UTSW 3 157,273,423 (GRCm39) missense probably damaging 1.00
R9168:Ptger3 UTSW 3 157,273,424 (GRCm39) missense probably damaging 1.00
R9281:Ptger3 UTSW 3 157,273,090 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACAGTGTTCGGGCTATCCTC -3'
(R):5'- ACTACTTACCAATAGCGGCG -3'

Sequencing Primer
(F):5'- ATCCTCGCTCCTGGTGG -3'
(R):5'- GTGGTGATTCTGCCCCACTG -3'
Posted On 2014-11-12