Itm2b - SNV Details



 Human Rare Diseases 
Familial dementia, Danish type
Familial dementia, British type

 Gene Information 
Gene Name Itm2b
Old Gene Names for Itm2b D14sel6 , Ai256040
Gene Description integral membrane protein 2B [Source:MGI Symbol;Acc:MGI:1309517]
MGI phenotype Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory.
Uniprot Name
CCDS Name
Gene GO
endosome membrane; membrane; integral component of organelle membrane; beta-amyloid binding; extrinsic apoptotic signaling pathway in absence of ligand; Golgi-associated vesicle membrane; intracellular membrane-bounded organelle; protein binding; nucleus; extracellular vesicular exosome; negative regulation of amyloid precursor protein biosynthetic process; ATP binding; plasma membrane; extracellular space; Golgi apparatus
Homolog in other species ITM2B
Omim http://omim.org/entry/603904
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
HIGH
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022108
Chromosome 14
Coordinate 73,365,789     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 33
Allele Frequency
G:R0.61
A:V0.39
Amino Acid Change P->L (Proline -> Leucine)
Sample ID IGL03202
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved