Incidental Mutation 'R5413:Osbp'
ID427615
Institutional Source Beutler Lab
Gene Symbol Osbp
Ensembl Gene ENSMUSG00000024687
Gene Nameoxysterol binding protein
Synonyms
MMRRC Submission 042982-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #R5413 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location11965844-11994105 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11984491 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 551 (Y551H)
Ref Sequence ENSEMBL: ENSMUSP00000025590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025590]
Predicted Effect probably damaging
Transcript: ENSMUST00000025590
AA Change: Y551H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: Y551H

DomainStartEndE-ValueType
PH 87 181 1.21e-21 SMART
low complexity region 187 196 N/A INTRINSIC
coiled coil region 288 324 N/A INTRINSIC
PDB:2RR3|B 344 377 3e-16 PDB
Pfam:Oxysterol_BP 416 791 8.8e-146 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 49,020,377 T410S possibly damaging Het
Adamts3 A G 5: 89,708,767 S316P probably damaging Het
Angptl3 A T 4: 99,031,022 L6F probably benign Het
Clint1 T C 11: 45,886,480 V98A probably damaging Het
Clk2 A G 3: 89,173,478 N258S probably benign Het
Col18a1 T C 10: 77,069,476 D723G probably damaging Het
Csmd3 A T 15: 47,838,435 W1751R probably damaging Het
Daam1 C A 12: 71,946,292 L352M unknown Het
Dennd2a A T 6: 39,464,293 F964I probably damaging Het
Dock5 A G 14: 67,764,655 L1622P probably damaging Het
Dpy19l4 A G 4: 11,289,700 L195P probably damaging Het
Esp24 A C 17: 39,040,002 E31A possibly damaging Het
Fars2 T A 13: 36,204,562 Y11* probably null Het
Fbxl16 C A 17: 25,816,843 T138K possibly damaging Het
Frmpd1 A G 4: 45,249,196 I129V probably benign Het
Gria1 A G 11: 57,217,794 N241S probably benign Het
Homer1 A G 13: 93,391,779 E274G probably benign Het
Igdcc3 T C 9: 65,177,515 V189A possibly damaging Het
Igkv12-98 A G 6: 68,571,094 Y68C possibly damaging Het
Igkv3-3 G C 6: 70,687,430 R85S probably damaging Het
Ldha A G 7: 46,850,896 T144A possibly damaging Het
Lrp1 A G 10: 127,588,067 probably null Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Olfr10 A T 11: 49,318,413 Y289F probably damaging Het
Olfr136 G T 17: 38,335,624 A156S probably benign Het
Olfr301 A G 7: 86,412,467 Y35C probably benign Het
Olfr524 A T 7: 140,202,722 V16E possibly damaging Het
Paf1 T C 7: 28,396,615 M249T possibly damaging Het
Pcsk2 T C 2: 143,696,700 probably null Het
Piwil1 G A 5: 128,743,880 V290I possibly damaging Het
Prmt9 A T 8: 77,572,009 D444V possibly damaging Het
Rapgef2 T C 3: 79,087,866 D677G probably damaging Het
Tmem59 A G 4: 107,200,462 E237G probably benign Het
Trpm5 A T 7: 143,080,968 I664N probably damaging Het
Unc13b G A 4: 43,257,936 probably null Het
Usp17lc C A 7: 103,418,556 Q353K probably benign Het
Uvssa G A 5: 33,410,908 V547M probably damaging Het
Vdac1 G T 11: 52,374,967 L52F probably null Het
Vmn2r14 T A 5: 109,221,288 I140L probably benign Het
Wnt3a A G 11: 59,275,356 S33P probably benign Het
Wwp2 T A 8: 107,555,078 Y300N probably damaging Het
Zwilch T A 9: 64,168,610 probably null Het
Other mutations in Osbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01971:Osbp APN 19 11990635 missense probably benign 0.00
R0025:Osbp UTSW 19 11983958 missense probably damaging 1.00
R0025:Osbp UTSW 19 11983958 missense probably damaging 1.00
R0141:Osbp UTSW 19 11973859 missense possibly damaging 0.84
R0764:Osbp UTSW 19 11984156 splice site probably benign
R1583:Osbp UTSW 19 11977829 missense probably benign 0.18
R1808:Osbp UTSW 19 11970778 missense probably damaging 1.00
R1853:Osbp UTSW 19 11973891 missense possibly damaging 0.48
R2007:Osbp UTSW 19 11973901 missense probably benign 0.31
R2291:Osbp UTSW 19 11973834 nonsense probably null
R3788:Osbp UTSW 19 11978921 missense probably benign 0.00
R4082:Osbp UTSW 19 11978666 missense probably benign
R5240:Osbp UTSW 19 11978290 missense probably damaging 1.00
R5825:Osbp UTSW 19 11970721 missense probably damaging 0.98
R5907:Osbp UTSW 19 11973876 missense probably damaging 1.00
R6255:Osbp UTSW 19 11977953 missense possibly damaging 0.64
R7226:Osbp UTSW 19 11978667 missense probably benign
X0024:Osbp UTSW 19 11978291 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCACCTGCTGTTGTGGATG -3'
(R):5'- TAAAAGAGTGCCTGGCCTC -3'

Sequencing Primer
(F):5'- TGTAAAAATATCAAGGGAGGCTCTTG -3'
(R):5'- AGTGCCTGGCCTCCCAAC -3'
Posted On2016-09-01