|Institutional Source||Beutler Lab|
|Gene Name||insulin receptor substrate 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.478)|
|Stock #||R0501 (G1)|
|Chromosomal Location||10984681-11008458 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 11006396 bp|
|Amino Acid Change||Valine to Methionine at position 679 (V679M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038514 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040514]|
Crystal structure of the insulin receptor kinase in complex with IRS2 KRLB peptide [X-RAY DIFFRACTION]
Crystal structure of the insulin receptor kinase in complex with IRS2 KRLB peptide and ATP [X-RAY DIFFRACTION]
Crystal structure of the insulin receptor kinase in complex with IRS2 KRLB phosphopeptide [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: V679M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V679M
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene results in type 2 diabetes due to insulin resistance and pancreatic beta cell dysfunction, causes defects in leptin action, energy balance, lipid homeostasis and vascular wound healing, and leads to female infertility due to hypothalamic and ovarian dysfunction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Irs2||
(F):5'- TCCATAGACAGCTTGGAGCCACAC -3'
(R):5'- GGACTTATTCCCTAACCACGCCTG -3'
(F):5'- TTGGAGCCACACCACATTC -3'
(R):5'- ATGAGGGCCACCTTCTCTG -3'