Incidental Mutation 'IGL02389:Ptger3'
ID291673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger3
Ensembl Gene ENSMUSG00000040016
Gene Nameprostaglandin E receptor 3 (subtype EP3)
SynonymsPtgerep3, Pgerep3, EP3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02389
Quality Score
Status
Chromosome3
Chromosomal Location157566892-157645888 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 157567171 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 52 (R52C)
Ref Sequence ENSEMBL: ENSMUSP00000134137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041175] [ENSMUST00000173533]
Predicted Effect probably damaging
Transcript: ENSMUST00000041175
AA Change: R52C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043302
Gene: ENSMUSG00000040016
AA Change: R52C

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: R52C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134137
Gene: ENSMUSG00000040016
AA Change: R52C

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
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). 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Other mutations in Ptger3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1371:Ptger3 UTSW 3 157567728 nonsense probably null
R2437:Ptger3 UTSW 3 157567570 missense probably damaging 1.00
R4616:Ptger3 UTSW 3 157567294 missense probably damaging 1.00
R6526:Ptger3 UTSW 3 157567502 missense probably damaging 0.99
R7360:Ptger3 UTSW 3 157567127 missense probably benign 0.18
R7571:Ptger3 UTSW 3 157641775 missense probably benign 0.01
R8433:Ptger3 UTSW 3 157643955 makesense probably null
Posted On2015-04-16