|Institutional Source||Beutler Lab|
|Gene Name||contactin associated protein-like 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.268)|
|Stock #||R0007 (G1)|
|Chromosomal Location||45059357-47304213 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 45992073 bp|
|Amino Acid Change||Asparagine to Histidine at position 250 (N250H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110288 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114641]|
|Predicted Effect||possibly damaging
AA Change: N250H
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: N250H
|Meta Mutation Damage Score||0.114|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cntnap2||
(F):5'- TTTCTCCTCTCAGGGGCTGACG -3'
(R):5'- CACAATCCAGAGCTATGATCCAGTGAC -3'
(F):5'- ATCAACTTTGATGGCCACGG -3'
(R):5'- tgtatgaatgatttgcctgcc -3'