|Institutional Source||Beutler Lab|
|Gene Name||oxysterol binding protein 2|
|Synonyms||OSBPL1, 1700095P05Rik, C630001G20Rik, ORP-4|
|Is this an essential gene?||Probably non essential (E-score: 0.090)|
|Stock #||R4788 (G1)|
|Chromosomal Location||3703731-3863903 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3863320 bp|
|Amino Acid Change||Lysine to Arginine at position 183 (K183R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068652 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070552]|
|Predicted Effect||probably benign
AA Change: K183R
PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: K183R
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene belongs to the oxysterol-binding protein-related family of proteins, which are defined by a C-terminal sterol domain with a highly conserved EQVSHHPP motif. Oxysterols are oxygenated derivatives of cholesterol that are involved in mechanisms that include apoptosis, cholesterol homeostasis, lipid trafficking and cell differentiation. This protein is selectively expressed at high levels in the brain and testis. Within the testis, the mRNA is localized to postmeiotic germ cells, including spermatids and spermatozoa, but is not detectable in somatic cells. Mice homozygous mutant for a targeted deletion in this gene do not exhibit overt developmental phenotypes but are male sterile. Females display normal fertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with sperm defects including oligozoospermia, teratozoospermia, asthenozoospermia and abnormal spermiogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Osbp2||
(F):5'- ACATCTCAGAAGGGTTATGGTG -3'
(R):5'- TCAGAGAACGGCACAAGGTC -3'
(F):5'- GTGACACCCACCCCACAGTC -3'
(R):5'- AGGTCTGTGTCCATCATCAAAGC -3'