|Institutional Source||Beutler Lab|
|Gene Name||neural cell adhesion molecule 1|
|Synonyms||NCAM-140, E-NCAM, NCAM-180, NCAM-1, CD56, NCAM-120, NCAM|
|Is this an essential gene?||Probably essential (E-score: 0.922)|
|Stock #||R8023 (G1)|
|Chromosomal Location||49502136-49798925 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 49509757 bp|
|Amino Acid Change||Alanine to Serine at position 753 (A753S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000142275 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166811] [ENSMUST00000193547]|
AA Change: A754S
|Predicted Effect||probably benign
AA Change: A753S
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: A753S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ncam1||
(F):5'- GCCTTAAACCCATGCTTCAAGTC -3'
(R):5'- CCCCAGGGATGGCTGTTTATAG -3'
(F):5'- CATGCTTCAAGTCAGGGAGGTC -3'
(R):5'- TTATAGGGCCAGGGACTCATGC -3'