Sv2b - SNV Details



 Gene Information 
Gene Name Sv2b
Old Gene Names for Sv2b A830038f04rik , Ai850768
Gene Description synaptic vesicle glycoprotein 2 b [Source:MGI Symbol;Acc:MGI:1927338]
MGI phenotype Homozygotes for a targeted null mutation are phenotypically normal, and Sv2a/Sv2b double knockouts are no more affected than Sv2a single knockouts.
Uniprot Name
CCDS Name
Gene GO
synaptic transmission; membrane; neurotransmitter transport; integral to membrane; transporter activity; synaptic vesicle membrane; acrosomal vesicle; cell junction; transport; synaptic vesicle; transmembrane transporter activity; transmembrane transport
Homolog in other species SV2B
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000053025
Chromosome 7
Coordinate 75,124,199     (Assembly: GRCm38)    
Ref Base T
Codon Change aAg/aTg
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.57
A:V0.43
Amino Acid Position 508
Amino Acid Change K->M (Lysine -> Methionine)
Sample ID IGL02302
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved