|Institutional Source||Beutler Lab|
|Gene Name||contactin associated protein-like 3|
|Is this an essential gene?||Probably non essential (E-score: 0.056)|
|Stock #||R4994 (G1)|
|Chromosomal Location||64736182-64903955 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 64761984 bp|
|Amino Acid Change||Threonine to Lysine at position 769 (T769K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089140 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091554]|
|Predicted Effect||possibly damaging
AA Change: T769K
PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: T769K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1297|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cntnap3||
(F):5'- CTACCCTGGCCCTAAGATTG -3'
(R):5'- TGCCAGAGAAGTTTCACACAC -3'
(F):5'- GGCCCTAAGATTGCCTCTAC -3'
(R):5'- TCTGAGACTAATCTTGAAAGAGCAG -3'