Bmpr2 - SNV Details



 Human Rare Diseases 
Pulmonary venoocclusive disease
Heritable pulmonary arterial hypertension

 Gene Information 
Gene Name Bmpr2
Old Gene Names for Bmpr2 Aw546137 , Bb189135 , 2610024h22rik , Al117858
Gene Description bone morphogenetic protein receptor, type II (serine/threonine kinase) [Source:MGI Symbol;Acc:MGI:1095407]
MGI phenotype Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm.
Uniprot Name
CCDS Name
Gene GO
growth factor binding; transmembrane receptor protein serine/threonine kinase activity; artery development; negative regulation of systemic arterial blood pressure; protein kinase activity; transcription from RNA polymerase II promoter; transmembrane receptor protein serine/threonine kinase signaling pathway; membrane; caveola; anterior/posterior pattern specification; apical plasma membrane; cytoplasm; positive regulation of protein phosphorylation; BMP signaling pathway; positive regulation of endothelial cell migration; metal ion binding; venous blood vessel development; mesoderm formation; transferase activity
transferring phosphorus-containing groups; integral to plasma membrane; cellular response to starvation; protein binding; positive regulation of endothelial cell proliferation; cell surface; neuronal cell body; lung alveolus development; regulation of cell proliferation; negative regulation of cell growth; protein phosphorylation; blood vessel remodeling; basal plasma membrane; protein tyrosine kinase activity; positive regulation of epithelial cell migration; ATP binding; lymphangiogenesis; plasma membrane; positive regulation of pathway-restricted SMAD protein phosphorylation; dendrite; vascular endothelial growth factor receptor signaling pathway; transforming growth factor beta-activated receptor activity; positive regulation of BMP signaling pathway; positive regulation of bone mineralization; negative regulation of DNA biosynthetic process; regulation of lung blood pressure; retina vasculature development in camera-type eye; negative regulation of vasoconstriction; brain development; lymphatic endothelial cell differentiation; positive regulation of osteoblast differentiation
Homolog in other species BMPR2
Omim http://omim.org/entry/600799
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000067336
Chromosome 1
Coordinate 59,868,344     (Assembly: GRCm38)    
Ref Base T
Codon Change gaT/gaA
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.38
A:V0.62
Amino Acid Position 865
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02281
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

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

 Availability Details 
Availability Cryopreserved