Ptgis - SNV Details



 Gene Information 
Gene Name Ptgis
Gene Description prostaglandin I2 (prostacyclin) synthase [Source:MGI Symbol;Acc:MGI:1097156]
MGI phenotype Homozygous mutation of this gene results in increased blood urea nitrogen and creatinine levels, thickening of the aorta with age, mildly increased blood pressure, and kidney abnormalities including cysts, fibrosis, necrosis, and renal vascular congestion.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; caveola; integral to membrane; negative regulation of inflammatory response; monooxygenase activity; positive regulation of apoptotic process; negative regulation of NF-kappaB transcription factor activity; endoplasmic reticulum membrane; negative regulation of nitric oxide biosynthetic process; endoplasmic reticulum; prostaglandin biosynthetic process; prostaglandin-I synthase activity; protein binding; nucleus; heme binding; cellular response to interleukin-1; cellular response to hypoxia; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen; positive regulation of angiogenesis; positive regulation of peroxisome proliferator activated receptor signaling pathway; extracellular space; cellular response to interleukin-6; electron carrier activity; iron ion binding
Homolog in other species PTGIS
Omim http://omim.org/entry/601699
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000017969
Chromosome 2
Coordinate 167,240,342     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.46
T:V0.54
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02434
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved