Incidental Mutation 'R6134:Ptgs1'
ID 487262
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 044281-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R6134 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 36120438-36142284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36141190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 546 (Y546H)
Ref Sequence ENSEMBL: ENSMUSP00000059977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062069]
AlphaFold P22437
Predicted Effect probably damaging
Transcript: ENSMUST00000062069
AA Change: Y546H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: Y546H

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 94% (51/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,767,619 (GRCm39) E39K probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aktip T A 8: 91,856,388 (GRCm39) S30C probably damaging Het
Anxa10 G T 8: 62,530,977 (GRCm39) H78N probably damaging Het
Aoah C T 13: 21,095,293 (GRCm39) R196W probably damaging Het
Arl4c A T 1: 88,629,152 (GRCm39) W79R probably damaging Het
Brd2 A T 17: 34,332,669 (GRCm39) D178E probably benign Het
Cacna1e G A 1: 154,577,037 (GRCm39) P120L probably damaging Het
Cdh16 A T 8: 105,342,697 (GRCm39) M17K probably benign Het
Cdhr17 A T 5: 17,029,683 (GRCm39) D473V probably damaging Het
Chit1 A G 1: 134,071,798 (GRCm39) T103A possibly damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Coch T A 12: 51,649,536 (GRCm39) D282E probably damaging Het
Col1a2 C A 6: 4,538,035 (GRCm39) S1181R unknown Het
Col6a2 T C 10: 76,442,978 (GRCm39) D506G probably damaging Het
Crx A T 7: 15,602,032 (GRCm39) Y215* probably null Het
Fasn A T 11: 120,713,012 (GRCm39) S58T probably benign Het
Fhip1a T C 3: 85,580,651 (GRCm39) E518G possibly damaging Het
Garem1 A T 18: 21,262,881 (GRCm39) D644E probably benign Het
H2-Q2 A C 17: 35,562,217 (GRCm39) T155P probably damaging Het
Insr A T 8: 3,242,572 (GRCm39) I49N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lnpep A G 17: 17,773,454 (GRCm39) M639T probably benign Het
Lypd11 G A 7: 24,425,481 (GRCm39) A3V probably damaging Het
Map3k20 C T 2: 72,240,503 (GRCm39) S333F probably damaging Het
Miga2 A G 2: 30,261,229 (GRCm39) S175G probably benign Het
Muc3a A T 5: 137,244,579 (GRCm39) I191N probably damaging Het
Ncoa2 A G 1: 13,244,595 (GRCm39) V701A probably damaging Het
Nid2 T C 14: 19,828,851 (GRCm39) V565A probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Numbl G C 7: 26,980,739 (GRCm39) A574P probably damaging Het
Oas3 A G 5: 120,907,113 (GRCm39) V508A unknown Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pcdhb21 T A 18: 37,647,461 (GRCm39) S197T probably benign Het
Pck2 T A 14: 55,781,419 (GRCm39) M180K probably damaging Het
Pgr T C 9: 8,900,740 (GRCm39) V91A possibly damaging Het
Phtf1 A T 3: 103,911,721 (GRCm39) M643L probably damaging Het
Prokr1 T C 6: 87,565,837 (GRCm39) T3A possibly damaging Het
Rasa1 A G 13: 85,374,745 (GRCm39) L742P probably benign Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Rgs22 A G 15: 36,107,194 (GRCm39) L64P probably damaging Het
Rnf213 A T 11: 119,302,296 (GRCm39) I407F probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scin G A 12: 40,110,578 (GRCm39) P690L probably damaging Het
Septin9 T C 11: 117,242,987 (GRCm39) L58P probably damaging Het
Slc1a7 A G 4: 107,869,633 (GRCm39) E566G probably damaging Het
Speer4f1 G A 5: 17,681,140 (GRCm39) R6Q probably benign Het
Tnxb A T 17: 34,890,986 (GRCm39) Y443F probably damaging Het
Trpv1 A G 11: 73,135,143 (GRCm39) I79V probably benign Het
Ttll6 C T 11: 96,030,568 (GRCm39) T245I possibly damaging Het
Vmn2r26 T C 6: 124,038,444 (GRCm39) I673T probably damaging Het
Zfp60 T C 7: 27,449,323 (GRCm39) F664L probably benign 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
R5373:Ptgs1 UTSW 2 36,141,198 (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
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'- TGAGTGACTGCGTCCTCTTG -3'
(R):5'- CCCACATCAAGGACTGTCTTC -3'

Sequencing Primer
(F):5'- CGTCCTCTTGCTCCACAGG -3'
(R):5'- CATCAAGGACTGTCTTCATCAGG -3'
Posted On 2017-10-10