Incidental Mutation 'IGL03306:Ptgs1'
ID416386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptgs1
Ensembl Gene ENSMUSG00000047250
Gene Nameprostaglandin-endoperoxide synthase 1
SynonymsPghs1, Cox-3, COX1, Cox-1, cyclooxygenase 1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.439) question?
Stock #IGL03306
Quality Score
Status
Chromosome2
Chromosomal Location36230426-36252272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36237705 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 92 (H92L)
Ref Sequence ENSEMBL: ENSMUSP00000059977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062069]
Predicted Effect probably damaging
Transcript: ENSMUST00000062069
AA Change: H92L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: H92L

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: ENSMUST00000133777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151351
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,589,504 F584Y probably damaging Het
Amer2 C A 14: 60,378,552 D65E probably damaging Het
Arhgap28 A T 17: 67,852,935 L623Q probably damaging Het
Cep152 T C 2: 125,605,408 T407A possibly damaging Het
Cmpk2 A G 12: 26,471,443 D238G possibly damaging Het
Fam169a C A 13: 97,106,989 Q176K possibly damaging Het
Fbxo17 T A 7: 28,735,357 I189N probably damaging Het
Gm5581 T A 6: 131,168,081 noncoding transcript Het
Gpcpd1 C T 2: 132,534,073 probably null Het
Lhx2 A G 2: 38,354,616 Y123C probably damaging Het
Llgl1 C A 11: 60,711,354 T741N possibly damaging Het
Macc1 A G 12: 119,446,868 Q457R probably benign Het
Mthfd2l A G 5: 91,020,208 T321A probably damaging Het
Myo6 T C 9: 80,246,555 F271S probably damaging Het
Ncoa6 A G 2: 155,405,507 V1959A probably benign Het
Npsr1 A G 9: 24,313,239 D304G probably benign Het
Nup205 T C 6: 35,208,169 V841A probably damaging Het
Olfr352 A T 2: 36,870,525 probably benign Het
Olfr95 A G 17: 37,211,677 Y59H probably damaging Het
Osbpl9 A G 4: 109,172,332 probably benign Het
Pdgfra A G 5: 75,192,533 N995D possibly damaging Het
Rasd1 T A 11: 59,964,355 I100F possibly damaging Het
Rbm26 T C 14: 105,151,322 T378A probably damaging Het
Slc12a3 T C 8: 94,351,758 S805P possibly damaging Het
Smarcal1 G A 1: 72,626,466 V708I probably benign Het
Strn A G 17: 78,667,223 S408P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Tmbim1 A G 1: 74,293,066 Y101H probably damaging Het
Ube3a T A 7: 59,286,147 L614Q probably damaging Het
Wrn A G 8: 33,336,121 L171P probably damaging Het
Zfp335 T C 2: 164,895,984 probably benign Het
Other mutations in Ptgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Ptgs1 APN 2 36237219 missense probably damaging 1.00
IGL02345:Ptgs1 APN 2 36242971 missense probably null 0.93
IGL02952:Ptgs1 APN 2 36251241 missense probably benign 0.00
PIT4431001:Ptgs1 UTSW 2 36240680 missense probably damaging 1.00
R0468:Ptgs1 UTSW 2 36249193 missense probably damaging 1.00
R0638:Ptgs1 UTSW 2 36240856 splice site probably benign
R1563:Ptgs1 UTSW 2 36245202 missense possibly damaging 0.53
R1858:Ptgs1 UTSW 2 36242770 missense probably benign 0.19
R2012:Ptgs1 UTSW 2 36237656 missense probably benign
R2080:Ptgs1 UTSW 2 36242847 nonsense probably null
R2116:Ptgs1 UTSW 2 36237696 nonsense probably null
R4073:Ptgs1 UTSW 2 36237776 missense probably damaging 1.00
R4163:Ptgs1 UTSW 2 36251334 missense possibly damaging 0.87
R4862:Ptgs1 UTSW 2 36237255 missense probably damaging 1.00
R5062:Ptgs1 UTSW 2 36237282 missense probably damaging 1.00
R5071:Ptgs1 UTSW 2 36251260 missense probably damaging 1.00
R5072:Ptgs1 UTSW 2 36251260 missense probably damaging 1.00
R5073:Ptgs1 UTSW 2 36251260 missense probably damaging 1.00
R5074:Ptgs1 UTSW 2 36251260 missense probably damaging 1.00
R5373:Ptgs1 UTSW 2 36251186 missense probably damaging 1.00
R5374:Ptgs1 UTSW 2 36251186 missense probably damaging 1.00
R5419:Ptgs1 UTSW 2 36237222 missense probably damaging 1.00
R5428:Ptgs1 UTSW 2 36245268 missense probably benign 0.00
R5918:Ptgs1 UTSW 2 36251077 missense probably damaging 1.00
R6134:Ptgs1 UTSW 2 36251178 missense probably damaging 1.00
R6181:Ptgs1 UTSW 2 36251119 missense probably damaging 1.00
R6240:Ptgs1 UTSW 2 36237285 missense probably damaging 1.00
R6979:Ptgs1 UTSW 2 36251299 missense probably benign
R7020:Ptgs1 UTSW 2 36251029 missense probably damaging 1.00
R7445:Ptgs1 UTSW 2 36245210 missense probably benign 0.06
Posted On2016-08-02