Cntnap2 - SNV Details



 Human Rare Diseases 
Cortical dysplasia - focal epilepsy syndrome
Pitt-Hopkins-like 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 46,015,465     (Assembly: GRCm38)    
Ref Base C
Codon Change aCa/aTa
Var Base T
Zygosity Heterozygous
Read Depth 27
Allele Frequency
C:R0.52
T:V0.48
Amino Acid Position 442
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01290
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.18
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000110288:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000110288 Pfam 401
531 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000110288 Pfam 401
529 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000110288 Smart 393
529 Description available Search pathways
Laminin G domain Laminin_G IPR001791 ENSMUSP00000110288 Prosite_profiles 373
552 Description available Search pathways
Concanavalin A-like lectin/glucanases superfamily ConA-like_lec_gl_sf IPR008985 ENSMUSP00000110288 Superfamily 370
552 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved