|Institutional Source||Beutler Lab|
|Synonyms||Nct, nicastrin, D1Dau13e, 9430068N19Rik|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1524 (G1)|
|Chromosomal Location||172066013-172082795 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 172072149 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 322 (R322L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003550 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003550] [ENSMUST00000140643] [ENSMUST00000146137]|
AA Change: R322L
PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: R322L
|Meta Mutation Damage Score||0.4147|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ncstn||
(F):5'- TTTGTGAAGGCTCAAAGCAAACACC -3'
(R):5'- ACATCTGTGGGACTAGAACCTGACG -3'
(F):5'- TGTCACACCACAGGGACTG -3'
(R):5'- ACGTGCATTCTCTTGAAGCAG -3'