Incidental Mutation 'R5373:Ptgs1'
ID 428845
Institutional Source Beutler Lab
Gene Symbol Ptgs1
Ensembl Gene ENSMUSG00000047250
Gene Name prostaglandin-endoperoxide synthase 1
Synonyms Pghs1, Cox-1, COX1, cyclooxygenase 1, Cox-3
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R5373 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36120438-36142284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36141198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 548 (K548N)
Ref Sequence ENSEMBL: ENSMUSP00000059977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062069]
AlphaFold P22437
Predicted Effect probably damaging
Transcript: ENSMUST00000062069
AA Change: K548N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: K548N

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
EGF 37 72 2.48e1 SMART
low complexity region 172 185 N/A INTRINSIC
low complexity region 200 214 N/A INTRINSIC
Pfam:An_peroxidase 221 528 1.5e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202733
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. [provided by RefSeq, Jan 2014]
PHENOTYPE: Null mutants show impaired platelet aggregation, reduced inflammatory responses, and diminished susceptibility to induced papillomas. Female mutants exhibit delayed parturition and their offspring die neonatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,472,824 (GRCm39) I317T probably damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kcnq5 T A 1: 22,031,795 (GRCm39) H4L unknown Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Ptgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Ptgs1 APN 2 36,127,231 (GRCm39) missense probably damaging 1.00
IGL02345:Ptgs1 APN 2 36,132,983 (GRCm39) missense probably null 0.93
IGL02952:Ptgs1 APN 2 36,141,253 (GRCm39) missense probably benign 0.00
IGL03306:Ptgs1 APN 2 36,127,717 (GRCm39) missense probably damaging 1.00
PIT4431001:Ptgs1 UTSW 2 36,130,692 (GRCm39) missense probably damaging 1.00
R0468:Ptgs1 UTSW 2 36,139,205 (GRCm39) missense probably damaging 1.00
R0638:Ptgs1 UTSW 2 36,130,868 (GRCm39) splice site probably benign
R1563:Ptgs1 UTSW 2 36,135,214 (GRCm39) missense possibly damaging 0.53
R1858:Ptgs1 UTSW 2 36,132,782 (GRCm39) missense probably benign 0.19
R2012:Ptgs1 UTSW 2 36,127,668 (GRCm39) missense probably benign
R2080:Ptgs1 UTSW 2 36,132,859 (GRCm39) nonsense probably null
R2116:Ptgs1 UTSW 2 36,127,708 (GRCm39) nonsense probably null
R4073:Ptgs1 UTSW 2 36,127,788 (GRCm39) missense probably damaging 1.00
R4163:Ptgs1 UTSW 2 36,141,346 (GRCm39) missense possibly damaging 0.87
R4862:Ptgs1 UTSW 2 36,127,267 (GRCm39) missense probably damaging 1.00
R5062:Ptgs1 UTSW 2 36,127,294 (GRCm39) missense probably damaging 1.00
R5071:Ptgs1 UTSW 2 36,141,272 (GRCm39) missense probably damaging 1.00
R5072:Ptgs1 UTSW 2 36,141,272 (GRCm39) missense probably damaging 1.00
R5073:Ptgs1 UTSW 2 36,141,272 (GRCm39) missense probably damaging 1.00
R5074:Ptgs1 UTSW 2 36,141,272 (GRCm39) missense probably damaging 1.00
R5374:Ptgs1 UTSW 2 36,141,198 (GRCm39) missense probably damaging 1.00
R5419:Ptgs1 UTSW 2 36,127,234 (GRCm39) missense probably damaging 1.00
R5428:Ptgs1 UTSW 2 36,135,280 (GRCm39) missense probably benign 0.00
R5918:Ptgs1 UTSW 2 36,141,089 (GRCm39) missense probably damaging 1.00
R6134:Ptgs1 UTSW 2 36,141,190 (GRCm39) missense probably damaging 1.00
R6181:Ptgs1 UTSW 2 36,141,131 (GRCm39) missense probably damaging 1.00
R6240:Ptgs1 UTSW 2 36,127,297 (GRCm39) missense probably damaging 1.00
R6979:Ptgs1 UTSW 2 36,141,311 (GRCm39) missense probably benign
R7020:Ptgs1 UTSW 2 36,141,041 (GRCm39) missense probably damaging 1.00
R7445:Ptgs1 UTSW 2 36,135,222 (GRCm39) missense probably benign 0.06
R7557:Ptgs1 UTSW 2 36,135,223 (GRCm39) missense possibly damaging 0.92
R7873:Ptgs1 UTSW 2 36,141,292 (GRCm39) missense probably damaging 1.00
R8215:Ptgs1 UTSW 2 36,141,179 (GRCm39) missense probably damaging 1.00
R9244:Ptgs1 UTSW 2 36,130,724 (GRCm39) missense probably damaging 0.96
R9537:Ptgs1 UTSW 2 36,120,739 (GRCm39) missense unknown
R9709:Ptgs1 UTSW 2 36,141,204 (GRCm39) missense probably damaging 1.00
Z1176:Ptgs1 UTSW 2 36,130,788 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAGTTGGAGGAGCTGTAC -3'
(R):5'- CCCACATCAAGGACTGTCTTC -3'

Sequencing Primer
(F):5'- AGCTGTACGGTGACATCGATGC -3'
(R):5'- CATCAAGGACTGTCTTCATCAGG -3'
Posted On 2016-09-06