|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor I receptor|
|Synonyms||line 186, A330103N21Rik, CD221, hyft, IGF-1R|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5510 (G1)|
|Chromosomal Location||67952827-68233668 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 68193359 bp|
|Amino Acid Change||Arginine to Serine at position 739 (R739S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005671 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005671]|
|Predicted Effect||probably benign
AA Change: R739S
PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: R739S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (91/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igf1r||
(F):5'- TGCACATGTTTCTCTGAGGATG -3'
(R):5'- GCAGCTGTGGATATCGATGC -3'
(F):5'- TCTCAAGAGAGTACAGGATGGGTTG -3'
(R):5'- CTGTGGATATCGATGCGGTACAGAG -3'