Incidental Mutation 'IGL02345:Ptgs1'
ID289248
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: 0.461) question?
Stock #IGL02345
Quality Score
Status
Chromosome2
Chromosomal Location36230426-36252272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36242971 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 327 (D327G)
Ref Sequence ENSEMBL: ENSMUSP00000059977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062069]
Predicted Effect probably null
Transcript: ENSMUST00000062069
AA Change: D327G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059977
Gene: ENSMUSG00000047250
AA Change: D327G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,396,351 D177Y possibly damaging Het
Casc3 T C 11: 98,827,564 probably benign Het
Cnga1 C T 5: 72,605,272 V300I probably benign Het
Dcun1d4 A G 5: 73,511,152 D41G probably damaging Het
Dnm1l T C 16: 16,329,894 S181G possibly damaging Het
Dyrk1a T G 16: 94,671,362 S242A possibly damaging Het
Fcgbp T A 7: 28,071,643 probably benign Het
Fibcd1 T C 2: 31,816,592 Y409C probably damaging Het
Fig4 A T 10: 41,267,774 W230R probably null Het
Flt1 T C 5: 147,582,626 S960G probably benign Het
Fyb A G 15: 6,619,662 S390G possibly damaging Het
Gbx2 T C 1: 89,928,976 T231A probably benign Het
Gm16432 G A 1: 178,015,188 V60I possibly damaging Het
Gm5852 T A 3: 93,727,748 noncoding transcript Het
Lmo7 T C 14: 101,887,473 V456A probably damaging Het
Mark3 A G 12: 111,627,107 N191S probably damaging Het
Olfr871 C A 9: 20,213,018 S223Y possibly damaging Het
Pik3c2a C T 7: 116,405,891 E381K probably damaging Het
Pik3r5 A G 11: 68,492,726 D457G probably benign Het
Plcg2 T C 8: 117,585,180 S404P probably damaging Het
Prr16 T C 18: 51,303,229 F260S probably damaging Het
Psd4 T C 2: 24,401,823 probably null Het
Rgsl1 C T 1: 153,804,009 probably null Het
Spg20 T A 3: 55,117,726 probably null Het
Sugp1 A G 8: 70,043,084 probably benign Het
Tubgcp3 A T 8: 12,625,056 I713N probably damaging Het
Usp19 A G 9: 108,493,858 T240A probably benign Het
Vash2 A G 1: 190,978,215 V81A probably benign Het
Vmn2r41 T G 7: 8,138,768 N566H probably damaging Het
Wdr31 A G 4: 62,458,846 I42T possibly damaging Het
Zfp292 C T 4: 34,809,244 V1272I possibly damaging Het
Zfp638 C T 6: 83,984,875 R1899C probably damaging Het
Other mutations in Ptgs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Ptgs1 APN 2 36237219 missense probably damaging 1.00
IGL02952:Ptgs1 APN 2 36251241 missense probably benign 0.00
IGL03306:Ptgs1 APN 2 36237705 missense probably damaging 1.00
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
R7557:Ptgs1 UTSW 2 36245211 missense possibly damaging 0.92
Posted On2015-04-16