Als2 - SNV Details



 Human Rare Diseases 
Juvenile amyotrophic lateral sclerosis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis
Infantile-onset ascending hereditary spastic paralysis

 Gene Information 
Gene Name Als2
Old Gene Names for Als2 3222402c23rik , 9430073a21rik
Gene Description amyotrophic lateral sclerosis 2 (juvenile) [Source:MGI Symbol;Acc:MGI:1921268]
MGI phenotype Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract.
Uniprot Name
CCDS Name
Gene GO
vesicle organization; endosomal transport; early endosome; synaptic transmission
glutamatergic; cytoplasm; positive regulation of Rab GTPase activity; neuromuscular junction development; response to oxidative stress; Rac guanyl-nucleotide exchange factor activity; behavioral fear response; receptor recycling; vesicle; positive regulation of protein serine/threonine kinase activity; protein homodimerization activity; protein complex; Rho guanyl-nucleotide exchange factor activity; protein binding; Rab guanyl-nucleotide exchange factor activity; ruffle; guanyl-nucleotide exchange factor activity; cytosol; protein localization; lamellipodium; dendritic spine; protein serine/threonine kinase activator activity; regulation of Rho protein signal transduction; positive regulation of protein kinase activity; regulation of Rac GTPase activity; growth cone; neuron projection morphogenesis; Rab GTPase binding; positive regulation of Rac GTPase activity; dendrite; regulation of Rab GTPase activity; regulation of endosome size; locomotory behavior; centrosome; postsynaptic density
Homolog in other species ALS2
Omim http://omim.org/entry/606352
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN MASTCELLS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026024
Chromosome 1
Coordinate 59,183,787     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 79
Allele Frequency
A:R0.62
G:V0.38
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02896
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0.16
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved