Incidental Mutation 'IGL00824:Osbpl2'
ID12873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbpl2
Ensembl Gene ENSMUSG00000039050
Gene Nameoxysterol binding protein-like 2
SynonymsORP-2, C130070J12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL00824
Quality Score
Status
Chromosome2
Chromosomal Location180119306-180162680 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 180150267 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 255 (V255M)
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
Predicted Effect probably benign
Transcript: ENSMUST00000040668
AA Change: V255M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: V255M

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 75 474 8.4e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142376
Coding Region Coverage
Validation Efficiency
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
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Cyp2j5 A G 4: 96,663,923 F30L probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Paqr7 A G 4: 134,506,967 Y45C probably damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Sypl T A 12: 32,965,506 probably benign Het
Tmco3 T A 8: 13,292,825 V187E probably damaging Het
Trmt2b T C X: 134,267,405 I47M possibly damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P probably damaging Het
Other mutations in Osbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Osbpl2 APN 2 180150258 missense possibly damaging 0.60
IGL01385:Osbpl2 APN 2 180137080 missense probably benign 0.10
IGL01449:Osbpl2 APN 2 180145194 splice site probably benign
R0735:Osbpl2 UTSW 2 180150290 splice site probably benign
R1315:Osbpl2 UTSW 2 180148602 missense probably damaging 0.98
R1583:Osbpl2 UTSW 2 180148463 missense probably damaging 0.99
R2023:Osbpl2 UTSW 2 180150176 splice site probably null
R2276:Osbpl2 UTSW 2 180148526 missense possibly damaging 0.96
R3737:Osbpl2 UTSW 2 180161560 missense probably damaging 1.00
R3739:Osbpl2 UTSW 2 180161560 missense probably damaging 1.00
R4035:Osbpl2 UTSW 2 180161560 missense probably damaging 1.00
R6111:Osbpl2 UTSW 2 180150201 missense probably benign 0.38
R7324:Osbpl2 UTSW 2 180150201 missense probably benign 0.38
R7400:Osbpl2 UTSW 2 180153321 missense probably benign
R8379:Osbpl2 UTSW 2 180137102 missense probably damaging 1.00
Posted On2012-12-06