Incidental Mutation 'IGL03156:Ptgs2'
ID 411276
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgs2
Ensembl Gene ENSMUSG00000032487
Gene Name prostaglandin-endoperoxide synthase 2
Synonyms prostaglandin G/H synthase, Pghs2, PGHS-2, cyclooxygenase-2, cyclooxygenase 2, COX2, Cox-2, Tis10, PHS-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # IGL03156
Quality Score
Status
Chromosome 1
Chromosomal Location 149975851-149983978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 149981228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 504 (F504V)
Ref Sequence ENSEMBL: ENSMUSP00000035065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035065] [ENSMUST00000190784]
AlphaFold Q05769
PDB Structure CRYSTAL STRUCTURE OF ARACHIDONIC ACID BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2 [X-RAY DIFFRACTION]
CYCLOOXYGENASE-2 (PROSTAGLANDIN SYNTHASE-2) COMPLEXED WITH A SELECTIVE INHIBITOR, SC-558 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A MIXTURE OF ARACHIDONIC ACID AND PROSTAGLANDIN BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2: PROSTAGLANDIN STRUCTURE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF DICLOFENAC BOUND TO THE CYCLOOXYGENASE ACTIVE SITE OF COX-2 [X-RAY DIFFRACTION]
X-ray crystal structure of arachidonic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of eicosapentaenoic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of docosahexaenoic acid bound to the cyclooxygenase channel of cyclooxygenase-2 [X-RAY DIFFRACTION]
X-ray crystal structure of arachidonic acid bound in the cyclooxygenase channel of L531F murine COX-2 [X-RAY DIFFRACTION]
Structure of compound 5c-S bound at the active site of COX-2 [X-RAY DIFFRACTION]
Structure of celecoxib bound at the COX-2 active site [X-RAY DIFFRACTION]
>> 23 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000035065
AA Change: F504V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: F504V

DomainStartEndE-ValueType
EGF 20 55 2.64e1 SMART
low complexity region 182 198 N/A INTRINSIC
Pfam:An_peroxidase 206 562 7.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190784
SMART Domains Protein: ENSMUSP00000139904
Gene: ENSMUSG00000032487

DomainStartEndE-ValueType
Blast:EGF 1 23 2e-9 BLAST
SCOP:d1eqga2 1 26 5e-8 SMART
PDB:1CVU|B 1 62 1e-38 PDB
SCOP:d1cvua1 27 62 1e-20 SMART
Meta Mutation Damage Score 0.5308 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme that is a member of the prostaglandin G/H synthase family. The encoded protein converts arachidonic acid to prostaglandin endoperoxide H2 which is a key enzymatic step in prostaglandin biosynthesis. This gene is the inducible prostaglandin G/H synthase family member that is upregulated during inflammation. Aberrant regulation of this gene is associated with cancer progression in several tissues and an increased risk of cardiovascular events. This gene is the target of many non-steroidal anti-inflammatory drugs. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice exhibit increased perinatal mortality associated with frequent lack of closure and remodeling of the ductus arteriosus, background-sensitive kidney dysplasia with microcyst formation, and myocardial fibrosis. Mutant females show impaired fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,023,074 (GRCm39) I70T possibly damaging Het
Acot11 A G 4: 106,611,333 (GRCm39) Y365H probably damaging Het
Bdp1 A G 13: 100,197,544 (GRCm39) V947A probably benign Het
Ccdc159 G T 9: 21,840,771 (GRCm39) V113L probably benign Het
Cep350 T C 1: 155,733,788 (GRCm39) D3035G probably damaging Het
Clca3a1 T A 3: 144,719,672 (GRCm39) I433F probably damaging Het
Cntn5 T C 9: 9,673,882 (GRCm39) Y740C probably damaging Het
Dennd5a C A 7: 109,518,462 (GRCm39) probably benign Het
Des G A 1: 75,339,640 (GRCm39) E333K probably damaging Het
Dnah7a T C 1: 53,644,983 (GRCm39) R1018G probably damaging Het
Eif2b2 G T 12: 85,266,495 (GRCm39) A54S probably damaging Het
Gm7276 C T 18: 77,273,299 (GRCm39) probably benign Het
Hsbp1l1 A G 18: 80,278,734 (GRCm39) probably benign Het
Iars1 G A 13: 49,856,655 (GRCm39) G303S possibly damaging Het
Il18r1 A G 1: 40,537,528 (GRCm39) E431G possibly damaging Het
Lrrc14b A G 13: 74,512,023 (GRCm39) V19A probably benign Het
Map1lc3a T A 2: 155,118,929 (GRCm39) I31N probably damaging Het
Ms4a20 A T 19: 11,083,114 (GRCm39) I102K possibly damaging Het
Obscn T C 11: 58,945,722 (GRCm39) Y4163C probably damaging Het
Or5p6 T A 7: 107,631,558 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,280,070 (GRCm39) T632A probably benign Het
Potefam1 T C 2: 111,030,757 (GRCm39) D12G possibly damaging Het
Ppp1r15a A G 7: 45,174,595 (GRCm39) L71P possibly damaging Het
Rimbp2 T G 5: 128,848,821 (GRCm39) R908S probably damaging Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Sap30l T C 11: 57,696,994 (GRCm39) probably null Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Serpina12 T C 12: 104,004,158 (GRCm39) Y158C probably damaging Het
Tmem237 A T 1: 59,148,286 (GRCm39) D148E probably damaging Het
Trmt13 T C 3: 116,379,451 (GRCm39) D232G probably benign Het
Zan T A 5: 137,462,201 (GRCm39) T993S unknown Het
Zfp236 G A 18: 82,698,827 (GRCm39) L85F probably damaging Het
Zfp352 G A 4: 90,112,324 (GRCm39) D155N possibly damaging Het
Zfp867 T C 11: 59,355,834 (GRCm39) probably benign Het
Zmiz2 T C 11: 6,349,536 (GRCm39) F399L probably damaging Het
Other mutations in Ptgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Ptgs2 APN 1 149,980,175 (GRCm39) missense probably damaging 1.00
IGL01626:Ptgs2 APN 1 149,979,478 (GRCm39) missense probably damaging 1.00
IGL01758:Ptgs2 APN 1 149,977,740 (GRCm39) critical splice acceptor site probably null
IGL02168:Ptgs2 APN 1 149,979,430 (GRCm39) splice site probably null
IGL02309:Ptgs2 APN 1 149,981,307 (GRCm39) missense probably damaging 1.00
IGL02363:Ptgs2 APN 1 149,981,460 (GRCm39) splice site probably null
IGL02574:Ptgs2 APN 1 149,978,526 (GRCm39) nonsense probably null
R0436:Ptgs2 UTSW 1 149,980,028 (GRCm39) unclassified probably benign
R0629:Ptgs2 UTSW 1 149,976,788 (GRCm39) missense probably benign
R0631:Ptgs2 UTSW 1 149,980,288 (GRCm39) missense probably benign 0.30
R0811:Ptgs2 UTSW 1 149,977,105 (GRCm39) missense probably benign 0.03
R0812:Ptgs2 UTSW 1 149,977,105 (GRCm39) missense probably benign 0.03
R0980:Ptgs2 UTSW 1 149,980,061 (GRCm39) missense probably damaging 1.00
R1340:Ptgs2 UTSW 1 149,981,228 (GRCm39) missense probably damaging 1.00
R1626:Ptgs2 UTSW 1 149,979,619 (GRCm39) critical splice acceptor site probably null
R1666:Ptgs2 UTSW 1 149,977,021 (GRCm39) missense probably damaging 1.00
R1742:Ptgs2 UTSW 1 149,980,150 (GRCm39) missense probably damaging 1.00
R1926:Ptgs2 UTSW 1 149,975,979 (GRCm39) missense possibly damaging 0.48
R2148:Ptgs2 UTSW 1 149,981,465 (GRCm39) missense probably benign
R2361:Ptgs2 UTSW 1 149,979,726 (GRCm39) missense probably benign 0.00
R2927:Ptgs2 UTSW 1 149,977,011 (GRCm39) missense possibly damaging 0.95
R3966:Ptgs2 UTSW 1 149,981,226 (GRCm39) missense probably damaging 0.99
R4291:Ptgs2 UTSW 1 149,976,002 (GRCm39) missense probably benign
R4580:Ptgs2 UTSW 1 149,979,845 (GRCm39) missense possibly damaging 0.78
R4668:Ptgs2 UTSW 1 149,976,835 (GRCm39) missense probably benign 0.32
R4751:Ptgs2 UTSW 1 149,979,771 (GRCm39) missense probably damaging 1.00
R4777:Ptgs2 UTSW 1 149,981,138 (GRCm39) missense probably benign 0.03
R5264:Ptgs2 UTSW 1 149,978,481 (GRCm39) missense possibly damaging 0.62
R5570:Ptgs2 UTSW 1 149,979,859 (GRCm39) missense
R5587:Ptgs2 UTSW 1 149,981,306 (GRCm39) missense probably damaging 1.00
R5761:Ptgs2 UTSW 1 149,981,279 (GRCm39) missense probably benign 0.18
R5850:Ptgs2 UTSW 1 149,981,127 (GRCm39) missense probably benign 0.03
R6137:Ptgs2 UTSW 1 149,976,744 (GRCm39) missense probably benign 0.08
R6513:Ptgs2 UTSW 1 149,975,879 (GRCm39) unclassified probably benign
R6553:Ptgs2 UTSW 1 149,979,738 (GRCm39) missense possibly damaging 0.93
R6585:Ptgs2 UTSW 1 149,979,738 (GRCm39) missense possibly damaging 0.93
R6593:Ptgs2 UTSW 1 149,976,784 (GRCm39) missense possibly damaging 0.63
R6772:Ptgs2 UTSW 1 149,977,829 (GRCm39) missense probably damaging 1.00
R6850:Ptgs2 UTSW 1 149,981,291 (GRCm39) missense probably damaging 1.00
R7205:Ptgs2 UTSW 1 149,978,512 (GRCm39) missense probably benign 0.01
R7320:Ptgs2 UTSW 1 149,978,446 (GRCm39) missense probably damaging 1.00
R7567:Ptgs2 UTSW 1 149,978,448 (GRCm39) missense probably damaging 0.99
R7751:Ptgs2 UTSW 1 149,980,258 (GRCm39) missense probably benign 0.14
R7863:Ptgs2 UTSW 1 149,977,090 (GRCm39) missense probably damaging 1.00
R8100:Ptgs2 UTSW 1 149,978,472 (GRCm39) missense probably damaging 1.00
R8117:Ptgs2 UTSW 1 149,979,785 (GRCm39) missense probably damaging 1.00
R8128:Ptgs2 UTSW 1 149,977,099 (GRCm39) missense probably damaging 0.99
R8906:Ptgs2 UTSW 1 149,979,859 (GRCm39) missense
R8964:Ptgs2 UTSW 1 149,980,798 (GRCm39) missense probably damaging 1.00
R9184:Ptgs2 UTSW 1 149,980,175 (GRCm39) missense probably damaging 1.00
R9563:Ptgs2 UTSW 1 149,981,419 (GRCm39) missense probably benign
R9568:Ptgs2 UTSW 1 149,976,842 (GRCm39) critical splice donor site probably null
R9615:Ptgs2 UTSW 1 149,980,802 (GRCm39) missense probably damaging 1.00
Z1176:Ptgs2 UTSW 1 149,981,472 (GRCm39) missense probably benign
Posted On 2016-08-02