Incidental Mutation 'R5587:Ptgs2'
ID 438786
Institutional Source Beutler Lab
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
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 149975851-149983978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149981306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 530 (Y530H)
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: Y530H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: Y530H

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 0.6259 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Adamts18 G A 8: 114,501,992 (GRCm39) Q290* probably null Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cluap1 T A 16: 3,733,348 (GRCm39) V199E probably damaging Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Llgl1 T A 11: 60,601,168 (GRCm39) M702K probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Tshz2 A T 2: 169,726,262 (GRCm39) D286V probably damaging Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCTGCAGAATTGAAAGCCC -3'
(R):5'- CTTTTACAGCTCAGTTGAACGC -3'

Sequencing Primer
(F):5'- GCCCTCTACAGTGACATCGATG -3'
(R):5'- ACAGCTCAGTTGAACGCCTTTTG -3'
Posted On 2016-10-26