|Institutional Source||Beutler Lab|
|Gene Name||contactin associated protein-like 1|
|Synonyms||Nrxn4, Caspr, NCP1, p190, paranodin, shm|
|Is this an essential gene?||Possibly essential (E-score: 0.519)|
|Stock #||R4779 (G1)|
|Chromosomal Location||101170523-101190724 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101178072 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 147 (I147N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099398 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062759] [ENSMUST00000103109]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: I147N
PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: I147N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.238|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cntnap1||
(F):5'- AGTCCTGTGTGTAATCATGGAG -3'
(R):5'- ATCGTCGCCGTCAAAATACAG -3'
(F):5'- CATGGGGATGGAGTAAACGCC -3'
(R):5'- GTCGCCGTCAAAATACAGGATGC -3'