|Institutional Source||Beutler Lab|
|Gene Name||insulin receptor substrate 2|
|Is this an essential gene?||Possibly essential (E-score: 0.511)|
|Stock #||R0107 (G1)|
|Chromosomal Location||10984681-11008458 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 11004691 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 1247 (V1247E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038514 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040514]|
|Predicted Effect||probably damaging
AA Change: V1247E
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V1247E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1289|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
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'- GTGGCTTCCTTCAAGTGATGGGAC -3'
(R):5'- CCTTTGCCCACAATTCCAAGCG -3'
(F):5'- ACAGGAAGTCGATGCTTGC -3'
(R):5'- CTGTGGAAAATGTCTCACTCAGG -3'