|Institutional Source||Beutler Lab|
|Gene Name||insulin receptor|
|Synonyms||IR-A, IR-B, D630014A15Rik, 4932439J01Rik, IR, CD220|
|Is this an essential gene?||Probably essential (E-score: 0.869)|
|Stock #||R3162 (G1)|
|Chromosomal Location||3122061-3279617 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 3161416 bp|
|Amino Acid Change||Asparagine to Threonine at position 1141 (N1141T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088837 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091291]|
|PDB Structure||1.35A crystal structure of H-2Kb complexed with the GNYSFYAL peptide [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: N1141T
PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: N1141T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3063|
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: This gene encodes a member of the receptor tyrosine kinase family of transmembrane signaling proteins that play important roles in cell differentiation, growth and metabolism. The encoded preproprotein undergoes proteolytic processing to generate alpha and beta chains that form a disulfide-linked heterodimer which, in turn homodimerizes to form a mature, functional receptor. Mice lacking the encoded protein develop severe hyperglycemia and hyperketonemia, and die within a couple of days after birth as a result of diabetic ketoacidosis. [provided by RefSeq, Aug 2016]
PHENOTYPE: Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. Point mutation heterozygotes exhibit hyperglycemia, hyperinsulinemia and glucosuria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Insr||
(F):5'- GACCCAAGAATCTGCCATGC -3'
(R):5'- TTCAGAAATACCCTGGCTACAC -3'
(F):5'- GAATCTGCCATGCCACCC -3'
(R):5'- TGGCTACACCCCTGACC -3'