Incidental Mutation 'IGL01626:Ptgs2'
ID 92732
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 # IGL01626
Quality Score
Status
Chromosome 1
Chromosomal Location 149975851-149983978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149979478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 231 (R231H)
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: R231H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: R231H

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 noncoding transcript
Transcript: ENSMUST00000181460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181915
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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,595 (GRCm39) D188G probably damaging Het
Aoc1 A G 6: 48,883,465 (GRCm39) Y447C probably damaging Het
Brd1 A T 15: 88,585,090 (GRCm39) L915M probably damaging Het
Cacna2d3 T A 14: 28,665,564 (GRCm39) E152D possibly damaging Het
Dnase2b A G 3: 146,290,371 (GRCm39) probably null Het
Ecpas G A 4: 58,832,814 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,181 (GRCm39) V1860A probably damaging Het
Fbxl5 C A 5: 43,916,047 (GRCm39) G455V probably benign Het
Fpr-rs4 G A 17: 18,242,493 (GRCm39) V167M probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gnptab A G 10: 88,273,357 (GRCm39) T1045A probably damaging Het
Gucy1a1 T A 3: 82,015,926 (GRCm39) D354V probably damaging Het
Gucy2e A G 11: 69,123,681 (GRCm39) V406A possibly damaging Het
Herc2 T C 7: 55,734,890 (GRCm39) F160S probably benign Het
Ice2 T G 9: 69,314,614 (GRCm39) V42G probably benign Het
L3mbtl4 A G 17: 68,937,197 (GRCm39) Y406C probably damaging Het
Lepr C T 4: 101,590,731 (GRCm39) T103I probably benign Het
Ly75 T A 2: 60,131,359 (GRCm39) M1589L probably benign Het
Map4k3 A G 17: 80,913,238 (GRCm39) V644A probably damaging Het
Micall1 A G 15: 79,014,712 (GRCm39) D696G possibly damaging Het
Muc4 T C 16: 32,555,220 (GRCm39) V8A possibly damaging Het
Myo1h A G 5: 114,453,027 (GRCm39) D9G probably damaging Het
Nop14 T A 5: 34,806,689 (GRCm39) K472* probably null Het
Npat T A 9: 53,467,871 (GRCm39) D275E possibly damaging Het
Nt5c1b A G 12: 10,424,798 (GRCm39) T115A probably benign Het
Or2d3c A T 7: 106,526,627 (GRCm39) I13N probably benign Het
Or6n1 A G 1: 173,917,122 (GRCm39) N172S probably damaging Het
Pnpla7 T A 2: 24,940,905 (GRCm39) S1086T possibly damaging Het
Pold1 C T 7: 44,182,796 (GRCm39) probably null Het
Ppfia1 A G 7: 144,035,456 (GRCm39) F1165L probably benign Het
Prlr T A 15: 10,328,804 (GRCm39) D426E probably benign Het
Rorc A G 3: 94,296,094 (GRCm39) D91G probably damaging Het
Scaper C T 9: 55,819,335 (GRCm39) V127M possibly damaging Het
Sema3g A T 14: 30,943,684 (GRCm39) Y188F probably damaging Het
Slc45a3 G T 1: 131,906,725 (GRCm39) A400S possibly damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Spg11 T A 2: 121,891,452 (GRCm39) H1973L probably damaging Het
Srgap3 A G 6: 112,750,609 (GRCm39) Y359H probably damaging Het
Stx16 T G 2: 173,935,813 (GRCm39) I248S probably damaging Het
Sytl3 A G 17: 7,002,839 (GRCm39) R287G probably damaging Het
Tiam1 T C 16: 89,609,856 (GRCm39) T82A probably damaging Het
Trpm1 T C 7: 63,918,637 (GRCm39) L659P probably damaging Het
Ttc13 G A 8: 125,400,477 (GRCm39) probably benign Het
Unc80 T C 1: 66,590,213 (GRCm39) probably null Het
Vldlr G T 19: 27,221,173 (GRCm39) R613L probably damaging Het
Wdr77 C T 3: 105,867,002 (GRCm39) R35* probably null Het
Zc3h14 T G 12: 98,745,445 (GRCm39) I478R possibly damaging Het
Zfp366 A G 13: 99,364,920 (GRCm39) H27R probably damaging Het
Other mutations in Ptgs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Ptgs2 APN 1 149,980,175 (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
IGL03156:Ptgs2 APN 1 149,981,228 (GRCm39) missense probably damaging 1.00
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 2013-12-09