Incidental Mutation 'IGL01998:Ptges2'
ID 182979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptges2
Ensembl Gene ENSMUSG00000026820
Gene Name prostaglandin E synthase 2
Synonyms GBF1, GBF-1, 0610038H10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01998
Quality Score
Status
Chromosome 2
Chromosomal Location 32395896-32405772 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32401530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 310 (A310T)
Ref Sequence ENSEMBL: ENSMUSP00000028162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028162] [ENSMUST00000123714]
AlphaFold Q8BWM0
Predicted Effect possibly damaging
Transcript: ENSMUST00000028162
AA Change: A310T

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028162
Gene: ENSMUSG00000026820
AA Change: A310T

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
low complexity region 57 71 N/A INTRINSIC
Pfam:Glutaredoxin 101 156 4.6e-10 PFAM
Pfam:GST_N_3 103 174 4.5e-14 PFAM
Pfam:GST_N_2 108 174 2.5e-9 PFAM
Pfam:GST_C_3 223 367 6.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120953
Predicted Effect probably benign
Transcript: ENSMUST00000123714
SMART Domains Protein: ENSMUSP00000141638
Gene: ENSMUSG00000026820

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130121
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a Golgi membrane-associated prostaglandin E synthase candidate, which is capable of catalyzing the conversion of prostaglandin H2 to prostaglandin E2 in vitro. However, a study using mice deficient of this gene suggests that this enzyme does not contribute to prostaglandin E2 biosynthesis in vivo. This protein is synthesized as a Golgi membrane-bound protein, but its N-terminal hydrophobic region is cleaved off during protein maturation to produce the predominant soluble truncated form that still retains the enzyme activity. This soluble protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE), possibly via an interaction with CAAAT/enhancer-binding protein-beta. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal prostaglandin E2 (PGE2) protein levels in the lactating mammary gland. Mice homozygous for a different knock-out allele exhibit increased sensitivity to IgE antigen-dependent passive cutaneous anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4930435E12Rik A T 16: 38,828,224 D174E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Cab39l T A 14: 59,496,895 L21Q probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Rsl1d1 A G 16: 11,194,645 S306P possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Triml1 T C 8: 43,141,313 D27G probably damaging Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Wwp2 C T 8: 107,549,521 R64C probably damaging Het
Zfp608 T C 18: 54,891,818 H1460R probably damaging Het
Other mutations in Ptges2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Ptges2 APN 2 32397707 missense probably damaging 1.00
R1463:Ptges2 UTSW 2 32400862 splice site probably null
R1993:Ptges2 UTSW 2 32400092 missense probably benign 0.25
R3151:Ptges2 UTSW 2 32396476 missense probably benign 0.01
R4795:Ptges2 UTSW 2 32396322 nonsense probably null
R6974:Ptges2 UTSW 2 32397671 missense possibly damaging 0.55
R7007:Ptges2 UTSW 2 32402306 missense probably benign
R7881:Ptges2 UTSW 2 32402231 missense probably damaging 1.00
R8696:Ptges2 UTSW 2 32400065 missense probably damaging 1.00
Posted On 2014-05-07