|Institutional Source||Beutler Lab|
|Gene Name||insulin-like growth factor binding protein 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.391)|
|Stock #||R6128 (G1)|
|Chromosomal Location||72824503-72852474 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 72824799 bp|
|Amino Acid Change||Cysteine to Serine at position 74 (C74S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]|
|Predicted Effect||probably damaging
AA Change: C74S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C74S
|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'- CAACATGCTGCCGAGATTG -3'
(R):5'- CTCACAGTCCGCATTACCTG -3'
(F):5'- GCTCCTGCCGTCGTTGC -3'
(R):5'- ATTACCTGCAACCTGCTGTGG -3'