Ptgs1 - SNV Details



 Gene Information 
Gene Name Ptgs1
Gene Description prostaglandin-endoperoxide synthase 1 [Source:MGI Symbol;Acc:MGI:97797]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; cytoplasm; regulation of blood pressure; metal ion binding; response to oxidative stress; endoplasmic reticulum membrane; keratinocyte differentiation; peroxidase activity; prostaglandin biosynthetic process; protein binding; regulation of cell proliferation; heme binding; prostaglandin-endoperoxide synthase activity; cyclooxygenase pathway; prostaglandin metabolic process; dioxygenase activity; photoreceptor outer segment
Homolog in other species PTGS1
Omim http://omim.org/entry/176805
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047250
Chromosome 2
Coordinate 36,237,705     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.50
T:V0.50
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL03306
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved