|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor binding protein 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.286)|
|Stock #||R6395 (G1)|
|Chromosomal Location||72824503-72852474 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 72824919 bp|
|Amino Acid Change||Threonine to Alanine at position 114 (T114A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]|
|Predicted Effect||probably damaging
AA Change: T114A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: T114A
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is one of several similar proteins that bind insulin-like growth factors I and II (Igf-I and Igf-II). The encoded protein can be secreted into the bloodstream, where it binds Igf-I and Igf-II with high affinity, or it can remain intracellular, interacting with many different ligands. Two transcript variants, one encoding a secreted isoform and the other encoding a nonsecreted isoform, have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in reduced spleen, heart and kidney size and increased liver weight. Homozygotes for another allele exhibit a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Igfbp2||
(F):5'- AACATGCTGCCGAGATTGGG -3'
(R):5'- TGGATCTGATTAAGGTCTAAGCTC -3'
(F):5'- AGGTGCTGTTCCGCTGC -3'
(R):5'- TGATTAAGGTCTAAGCTCTTTCTCC -3'