Incidental Mutation 'R1666:Ptgs2'
ID 187160
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 039702-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R1666 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 149975851-149983978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149977021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 44 (Y44C)
Ref Sequence ENSEMBL: ENSMUSP00000139904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035065] [ENSMUST00000190784]
AlphaFold Q05769
Predicted Effect probably damaging
Transcript: ENSMUST00000035065
AA Change: Y76C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035065
Gene: ENSMUSG00000032487
AA Change: Y76C

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 damaging
Transcript: ENSMUST00000190784
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139904
Gene: ENSMUSG00000032487
AA Change: Y44C

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 G A 15: 101,035,458 (GRCm39) R328H probably damaging Het
Afp T C 5: 90,652,927 (GRCm39) S466P probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Asic1 A G 15: 99,597,006 (GRCm39) D556G probably damaging Het
Atp2a3 T A 11: 72,869,633 (GRCm39) probably null Het
Brinp2 C A 1: 158,074,128 (GRCm39) E664D probably damaging Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Cd209f G A 8: 4,154,862 (GRCm39) Q79* probably null Het
Chrna7 T C 7: 62,861,890 (GRCm39) Y54C possibly damaging Het
Clec1a T C 6: 129,413,967 (GRCm39) D40G probably benign Het
Col11a1 A G 3: 113,855,184 (GRCm39) E148G unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cpz A G 5: 35,665,460 (GRCm39) probably null Het
Cyfip1 T A 7: 55,521,646 (GRCm39) N13K probably damaging Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Deup1 A T 9: 15,486,487 (GRCm39) Y398N possibly damaging Het
Elapor1 A G 3: 108,377,313 (GRCm39) S434P probably benign Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Exo1 T C 1: 175,736,052 (GRCm39) I812T possibly damaging Het
Fbxl17 A T 17: 63,692,060 (GRCm39) probably null Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabra6 A G 11: 42,208,461 (GRCm39) S124P probably damaging Het
Gje1 C A 10: 14,592,551 (GRCm39) W77L possibly damaging Het
Glra1 A G 11: 55,465,225 (GRCm39) S23P probably damaging Het
Gm6811 T C 17: 21,314,529 (GRCm39) noncoding transcript Het
Greb1l T A 18: 10,501,080 (GRCm39) probably null Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Grm6 A T 11: 50,750,711 (GRCm39) I625F probably damaging Het
Guca1a A G 17: 47,711,167 (GRCm39) F60L probably damaging Het
Hectd1 T A 12: 51,800,607 (GRCm39) E2070D possibly damaging Het
Itga5 G A 15: 103,256,329 (GRCm39) T910I probably benign Het
Kctd10 A G 5: 114,507,051 (GRCm39) V142A probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lmtk3 A T 7: 45,443,588 (GRCm39) D757V probably benign Het
Lpcat1 T C 13: 73,658,242 (GRCm39) probably null Het
Lrrc30 A T 17: 67,939,200 (GRCm39) C127S probably benign Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Ntf3 T C 6: 126,079,401 (GRCm39) D35G possibly damaging Het
Or5g25 A T 2: 85,478,157 (GRCm39) C169* probably null Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp4 A T 14: 56,861,620 (GRCm39) K984N possibly damaging Het
Pdgfra G A 5: 75,349,681 (GRCm39) G892D possibly damaging Het
Pik3c2g A T 6: 139,612,634 (GRCm39) probably benign Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Pramel7 G A 2: 87,322,747 (GRCm39) P6S probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rbm6 G A 9: 107,669,055 (GRCm39) T619I probably benign Het
Rp1 A G 1: 4,420,086 (GRCm39) I342T probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Sema5b C T 16: 35,478,852 (GRCm39) P559S probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Slc35f3 T A 8: 127,115,960 (GRCm39) S296T probably damaging Het
Slco1a8 T A 6: 141,927,775 (GRCm39) probably null Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spdya T A 17: 71,885,235 (GRCm39) C230S probably damaging Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Tapbpl A G 6: 125,207,164 (GRCm39) V175A probably benign Het
Tmt1a3 A G 15: 100,233,099 (GRCm39) I97V probably benign Het
Ttn T C 2: 76,642,095 (GRCm39) T13373A probably damaging Het
Tubb5 A T 17: 36,147,530 (GRCm39) N52K probably benign Het
Tyr T A 7: 87,142,149 (GRCm39) Y137F probably damaging Het
Unc45b T A 11: 82,808,565 (GRCm39) I217N probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Washc2 T A 6: 116,200,215 (GRCm39) probably null Het
Zfp566 A T 7: 29,777,901 (GRCm39) H93Q probably benign Het
Zfp740 A G 15: 102,116,753 (GRCm39) D56G probably damaging Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zmiz2 T G 11: 6,346,836 (GRCm39) S148R probably benign Het
Zmym6 T A 4: 127,016,652 (GRCm39) I719N probably damaging Het
Zyx T A 6: 42,332,966 (GRCm39) V372E 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
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
Predicted Primers PCR Primer
(F):5'- GCTGTTCCAATCCATGTCAAAACCG -3'
(R):5'- TGTGTTCCGAACAATTCTGTGAGCC -3'

Sequencing Primer
(F):5'- CCAGTATAAGTGTGACTGTACCCG -3'
(R):5'- CTTCAAGCCCTTTGAAAAGGTCAG -3'
Posted On 2014-05-09