Incidental Mutation 'R2496:Ptges'
ID 251147
Institutional Source Beutler Lab
Gene Symbol Ptges
Ensembl Gene ENSMUSG00000050737
Gene Name prostaglandin E synthase
Synonyms D2Ertd369e, mPGES, mPGES-1, 2410099E23Rik
MMRRC Submission 040410-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30779483-30793309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30782722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 110 (G110D)
Ref Sequence ENSEMBL: ENSMUSP00000099916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102852]
AlphaFold Q9JM51
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056046
SMART Domains Protein: ENSMUSP00000054679
Gene: ENSMUSG00000050737

DomainStartEndE-ValueType
Pfam:MAPEG 13 129 9.6e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102852
AA Change: G110D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099916
Gene: ENSMUSG00000050737
AA Change: G110D

DomainStartEndE-ValueType
Pfam:MAPEG 17 147 1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132244
Meta Mutation Damage Score 0.4716 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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 glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and display a decreased inflammatory response. Mice homozygous for a conditional allele activated in the vascular smooth muscle, endothelial or myeloid cells exhibit altered response to vascular injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or55b3 T C 7: 102,126,354 (GRCm39) K241R probably damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q probably damaging Het
Other mutations in Ptges
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Ptges APN 2 30,782,720 (GRCm39) missense probably damaging 1.00
IGL02737:Ptges APN 2 30,782,698 (GRCm39) missense probably damaging 1.00
R0352:Ptges UTSW 2 30,793,144 (GRCm39) nonsense probably null
R2164:Ptges UTSW 2 30,782,708 (GRCm39) missense probably benign 0.31
R2497:Ptges UTSW 2 30,782,722 (GRCm39) missense possibly damaging 0.89
R4832:Ptges UTSW 2 30,793,232 (GRCm39) utr 5 prime probably benign
R6703:Ptges UTSW 2 30,793,133 (GRCm39) missense possibly damaging 0.80
R7155:Ptges UTSW 2 30,782,816 (GRCm39) missense probably benign 0.07
R7601:Ptges UTSW 2 30,782,809 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CGCAAGTTCAGCCTTCATGG -3'
(R):5'- TTTCACAGGACTTTGAGCCG -3'

Sequencing Primer
(F):5'- GCTCTGTCCCCACTGTGGTAG -3'
(R):5'- TGGCTGTCCCAGAAGGTTC -3'
Posted On 2014-12-04