|Institutional Source||Beutler Lab|
|Gene Name||oxysterol binding protein-like 2|
|Is this an essential gene?||Probably non essential (E-score: 0.214)|
|Stock #||R8508 (G1)|
|Chromosomal Location||180119306-180162680 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 180155343 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 358 (V358E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046538 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040668]|
|Predicted Effect||possibly damaging
AA Change: V358E
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V358E
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Osbpl2||
(F):5'- TTAGAAAAGGCTGTGGCGCTG -3'
(R):5'- CACAGACCTGAGCAGAGTTG -3'
(F):5'- TGCACAGGGGCTTGGGAG -3'
(R):5'- TAACAGACCTGAGCAGAGTTG -3'