|Institutional Source||Beutler Lab|
|Gene Name||insulin degrading enzyme|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7771 (G1)|
|Chromosomal Location||37268743-37337852 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 37298126 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 495 (N495D)|
|Gene Model||predicted gene model for transcript(s):|
AA Change: N495D
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption of this gene display beta amyloid accumulations in the brain, hyperinsulinemia and glucose intolerance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ide||
(F):5'- ACCTTGAAGAGTTGGGGAAC -3'
(R):5'- TTGCTTACACGGTGGGCAAAG -3'
(F):5'- TTGGGGAACATAAGATGCCC -3'
(R):5'- TTCCCGAGCACTAGGATTGCAG -3'