Cntnap2 - SNV Details



 Human Rare Diseases 
Pitt-Hopkins-like syndrome
Cortical dysplasia - focal epilepsy syndrome

 Gene Information 
Gene Name Cntnap2
Old Gene Names for Cntnap2 5430425m22rik
Gene Description contactin associated protein-like 2 [Source:MGI Symbol;Acc:MGI:1914047]
MGI phenotype Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.
Uniprot Name
CCDS Name
Gene GO
juxtaparanode region of axon; vocalization behavior; enzyme binding; early endosome; membrane; protein localization to juxtaparanode region of axon; signal transduction; cell adhesion; thalamus development; superior temporal gyrus development; striatum development; protein binding; cell surface; neuronal cell body; neuron projection development; axon; cerebral cortex development; axolemma; perikaryon; neuron recognition; dendrite; limbic system development; receptor binding; cellular protein localization; voltage-gated potassium channel complex; clustering of voltage-gated potassium channels; Golgi apparatus; behavior
Homolog in other species CNTNAP2
Omim http://omim.org/entry/604569
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
MEDIAN
MEDIAN
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039419
Chromosome 6
Coordinate 47,271,371     (Assembly: GRCm38)    
Ref Base T
Codon Change tTg/tAg
Var Base A
Zygosity Heterozygous
Read Depth 90
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 1237
Amino Acid Change L->Stop (Leucine -> Stop)
Sample ID IGL01468
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Prediction N/A
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved