Ptgs2 - SNV Details



 Gene Information 
Gene Name Ptgs2
Gene Description prostaglandin-endoperoxide synthase 2 [Source:MGI Symbol;Acc:MGI:97798]
MGI phenotype Null mutants exhibit increased perinatal mortality associated with frequent lack of closure and remodeling of the ductus arteriosus, kidney dysplasia with microcysts, and myocardial fibrosis. Mutant females have impaired fertility.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; cellular response to UV; sensory perception of pain; cellular response to ATP; positive regulation of fibroblast growth factor production; response to lipopolysaccharide; negative regulation of calcium ion transport; enzyme binding; response to fatty acid; positive regulation of synaptic transmission
glutamatergic; positive regulation of synaptic plasticity; hair cycle; caveola; regulation of cell cycle; cytoplasm; regulation of blood pressure; positive regulation of apoptotic process; positive regulation of smooth muscle cell proliferation; metal ion binding; response to oxidative stress; endoplasmic reticulum membrane; keratinocyte differentiation; response to organic substance; peroxidase activity; negative regulation of smooth muscle contraction; negative regulation of cell cycle; response to radiation; positive regulation of smooth muscle contraction; negative regulation of synaptic transmission
dopaminergic; response to organic nitrogen; protein homodimerization activity; prostaglandin biosynthetic process; positive regulation of brown fat cell differentiation; angiogenesis; protein complex; response to glucocorticoid stimulus; protein binding; negative regulation of cell proliferation; inflammatory response; lipid binding; brown fat cell differentiation; response to vitamin D; positive regulation of NF-kappaB import into nucleus; regulation of cell proliferation; heme binding; response to estradiol stimulus; prostaglandin-endoperoxide synthase activity; cellular response to hypoxia; response to tumor necrosis factor; response to organic cyclic compound; response to cytokine stimulus; response to drug; positive regulation of cell death; decidualization; positive regulation vascular endothelial growth factor production; maintenance of blood-brain barrier; positive regulation of nitric oxide biosynthetic process; response to manganese ion; oxidoreductase activity
acting on single donors with incorporation of molecular oxygen
incorporation of two atoms of oxygen; positive regulation of fever generation; embryo implantation; neuron projection; cellular response to mechanical stimulus; positive regulation of vasoconstriction; ovulation; response to lithium ion; positive regulation of platelet-derived growth factor production; memory; anagen; learning; response to fructose stimulus; cyclooxygenase pathway; bone mineralization; positive regulation of transforming growth factor beta production; positive regulation of cell migration involved in sprouting angiogenesis
Homolog in other species PTGS2
Omim http://omim.org/entry/600262
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032487
Chromosome 1
Coordinate 150,103,727     (Assembly: GRCm38)    
Ref Base G
Codon Change cGc/cAc
Var Base A
Zygosity Heterozygous
Read Depth 80
Allele Frequency
G:R0.60
A:V0.40
Amino Acid Position 231
Amino Acid Change R->H (Arginine -> Histidine)
Sample ID IGL01626
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000035065:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Haem peroxidase, animal Haem_peroxidase_animal IPR002007 ENSMUSP00000035065 Pfam 210
559 Description available Search pathways
Haem peroxidase Haem_peroxidase IPR010255 ENSMUSP00000035065 Superfamily 59
569 Description available Search pathways
Haem peroxidase, animal Haem_peroxidase_animal IPR002007 ENSMUSP00000035065 Prosite_profiles 96
598 Description available Search pathways

 Availability Details 
Availability Cryopreserved