Incidental Mutation 'IGL01449:Osbpl2'
ID84582
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: 0.160) question?
Stock #IGL01449
Quality Score
Status
Chromosome2
Chromosomal Location180119306-180162680 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 180145194 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
Predicted Effect probably benign
Transcript: ENSMUST00000040668
SMART Domains Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 72,444,849 L33F probably benign Het
Actr8 T C 14: 29,990,970 probably null Het
Aldh16a1 C A 7: 45,141,967 A105S probably damaging Het
Angpt2 T C 8: 18,710,625 T154A probably benign Het
BC051665 A G 13: 60,782,704 V278A probably damaging Het
Cap1 T C 4: 122,860,187 T458A probably damaging Het
Clcn3 A T 8: 60,934,598 S179T probably damaging Het
Cyp2a22 T C 7: 26,933,553 D408G probably benign Het
D430042O09Rik T A 7: 125,870,685 V1442D probably damaging Het
Fam217b T A 2: 178,421,150 S302R probably damaging Het
Fcho2 A T 13: 98,789,807 D89E probably benign Het
Fnip1 C T 11: 54,499,508 R434C probably damaging Het
Gga3 G A 11: 115,589,102 T261M probably damaging Het
Gm21985 T C 2: 112,339,396 F292L probably damaging Het
Gm43638 A T 5: 87,486,215 S178T possibly damaging Het
Igkv10-95 G A 6: 68,680,764 G68E probably damaging Het
Lpcat2 G A 8: 92,871,147 R180Q possibly damaging Het
Muc6 C T 7: 141,638,614 A1984T possibly damaging Het
Npy4r T A 14: 34,146,365 Y322F probably damaging Het
Nwd2 T A 5: 63,805,594 H840Q probably damaging Het
Olfr844 G A 9: 19,319,233 G233D probably damaging Het
Pclo T A 5: 14,678,516 probably benign Het
Pold4 T C 19: 4,232,867 probably benign Het
Ppp1r16a A G 15: 76,694,294 probably benign Het
Pprc1 C T 19: 46,065,232 probably benign Het
Prkcg A G 7: 3,319,619 D343G probably benign Het
Scaf11 A C 15: 96,419,126 S852R probably benign Het
Slc31a2 C T 4: 62,292,696 T22I probably damaging Het
Sox30 T A 11: 45,981,342 D341E probably damaging Het
Tle4 A G 19: 14,465,340 S339P probably benign Het
Tsg101 A T 7: 46,908,925 Y78N probably damaging Het
Ttc1 T A 11: 43,738,803 S179C probably damaging Het
Txnrd3 T A 6: 89,654,147 S142T probably benign Het
Ubr4 C A 4: 139,412,736 A1210E probably damaging Het
Uroc1 C A 6: 90,338,653 P172Q probably damaging Het
Usp12 T C 5: 146,754,440 D168G probably benign Het
Vmn1r32 T A 6: 66,552,932 M287L probably benign Het
Vwa8 C T 14: 79,182,988 Q1710* probably null Het
Wdfy4 T A 14: 33,104,037 Q1219L probably damaging Het
Zbtb17 A G 4: 141,463,305 T145A probably benign Het
Zfp697 T C 3: 98,427,530 C204R probably damaging Het
Other mutations in Osbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Osbpl2 APN 2 180150258 missense possibly damaging 0.60
IGL00824:Osbpl2 APN 2 180150267 missense probably benign 0.08
IGL01385:Osbpl2 APN 2 180137080 missense probably benign 0.10
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
Posted On2013-11-11