|Institutional Source||Beutler Lab|
|Gene Name||islet amyloid polypeptide|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7762 (G1)|
|Chromosomal Location||142298423-142303961 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 142303396 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 58 (N58K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043956 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041993] [ENSMUST00000081380] [ENSMUST00000128446]|
AA Change: N58K
PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: N58K
|Meta Mutation Damage Score||0.1002|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this locus increases glucose tolerance in a gender-dependent manner and results in decreased bone density due to increased bone resorption. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Iapp||
(F):5'- TTGCAAACGAAAGCACTGAG -3'
(R):5'- TGTGCATTCTCACTGAGGG -3'
(F):5'- CGAAAGCACTGAGTGACTATTATAG -3'
(R):5'- GTGCTGCAGAAGTACATTG -3'