Incidental Mutation 'IGL02389:Ptger3'
ID 291673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptger3
Ensembl Gene ENSMUSG00000040016
Gene Name prostaglandin E receptor 3 (subtype EP3)
Synonyms Ptgerep3, EP3, Pgerep3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02389
Quality Score
Status
Chromosome 3
Chromosomal Location 157272459-157350392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 157272808 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Ptger3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1371:Ptger3 UTSW 3 157,273,365 (GRCm39) nonsense probably null
R2437:Ptger3 UTSW 3 157,273,207 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16