Ext2 - SNV Details

 Human Rare Diseases 
Multiple osteochondromas
Potocki-Shaffer syndrome

 Gene Information 
Gene Name Ext2
Old Gene Names for Ext2 Ai893565
Gene Description exostoses (multiple) 2 [Source:MGI Symbol;Acc:MGI:108050]
MGI phenotype Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs.
Uniprot Name
Gene GO
cell differentiation; glycosaminoglycan biosynthetic process; membrane; Golgi membrane; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; transferase activity
transferring hexosyl groups; protein glycosylation; endoplasmic reticulum membrane; endoplasmic reticulum; heparan sulfate proteoglycan biosynthetic process
polysaccharide chain biosynthetic process; mesoderm formation; protein homodimerization activity; integral component of membrane; cellular polysaccharide biosynthetic process; extracellular vesicular exosome; heparan sulfate N-acetylglucosaminyltransferase activity; intrinsic component of endoplasmic reticulum membrane; ossification; heparan sulfate proteoglycan biosynthetic process; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; acetylglucosaminyltransferase activity; transferase activity
transferring glycosyl groups; glucuronosyltransferase activity; Golgi apparatus; protein heterodimerization activity
Homolog in other species EXT2
Omim http://omim.org/entry/608210
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000027198
Chromosome 2
Coordinate 93,704,619     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL02939
Median Base Quality 39.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations


 Availability Details 
Availability Progeny Cryopreserved