Incidental Mutation 'R7950:Osbp'
ID649531
Institutional Source Beutler Lab
Gene Symbol Osbp
Ensembl Gene ENSMUSG00000024687
Gene Nameoxysterol binding protein
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #R7950 (G1)
Quality Score225.009
Status Validated
Chromosome19
Chromosomal Location11965844-11994105 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 11978248 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 343 (S343T)
Ref Sequence ENSEMBL: ENSMUSP00000025590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025590]
Predicted Effect probably benign
Transcript: ENSMUST00000025590
AA Change: S343T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: S343T

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik C T 10: 77,979,767 T31I probably damaging Het
Adgrf5 G A 17: 43,451,157 V1248M probably damaging Het
Alb T C 5: 90,472,464 S478P probably damaging Het
Arhgap17 A G 7: 123,286,816 S698P probably benign Het
Arhgef5 A G 6: 43,273,925 T537A possibly damaging Het
Arl6 A T 16: 59,618,731 probably null Het
Atp13a4 A T 16: 29,449,917 W540R Het
Birc6 A T 17: 74,593,100 D1091V probably damaging Het
Bnc1 A G 7: 81,973,502 V659A probably benign Het
C130074G19Rik T C 1: 184,874,374 probably null Het
C1ql4 T A 15: 99,084,812 H220L probably benign Het
Cacna1s A G 1: 136,100,625 N1147S probably benign Het
Cc2d2a T C 5: 43,695,296 probably null Het
Ccdc36 T C 9: 108,405,671 T273A probably benign Het
Ccl1 T A 11: 82,179,693 I18L probably benign Het
Ecel1 A T 1: 87,148,269 Y729N probably damaging Het
Epha4 T A 1: 77,507,196 I59F probably damaging Het
Filip1l A G 16: 57,569,711 K221E probably damaging Het
Flnc A G 6: 29,456,382 E2193G possibly damaging Het
Galnt10 C G 11: 57,783,723 P513A probably damaging Het
Gm5624 A G 14: 44,560,733 Y139H Het
Golgb1 A C 16: 36,915,424 I1719L probably benign Het
Hsf1 T C 15: 76,498,193 S255P probably benign Het
Ighv2-2 T C 12: 113,588,294 D108G probably damaging Het
Kbtbd3 C T 9: 4,316,878 Q10* probably null Het
Kcnh2 C T 5: 24,333,036 V110M probably benign Het
Magi3 A C 3: 104,016,689 L1112W probably damaging Het
Malrd1 T A 2: 16,128,068 D1933E unknown Het
Mki67 G A 7: 135,699,724 R1194* probably null Het
Nap1l1 T C 10: 111,492,908 Y233H probably damaging Het
Napsa A G 7: 44,585,334 I298V probably benign Het
Nkx6-1 A T 5: 101,663,599 S212R probably damaging Het
Nlrc4 A T 17: 74,445,615 I591N probably damaging Het
Olfr1468-ps1 T C 19: 13,375,067 I35T possibly damaging Het
Orc2 T C 1: 58,467,668 D503G possibly damaging Het
Pcdha6 T G 18: 36,969,426 D557E probably damaging Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,113,437 probably benign Het
Ppdpf A G 2: 181,187,857 Y35C probably benign Het
Scrn2 T A 11: 97,030,929 L75Q probably damaging Het
Scube3 G A 17: 28,171,226 V955I probably benign Het
Slc1a1 T C 19: 28,911,761 V478A probably benign Het
Slc4a4 A G 5: 89,058,278 probably null Het
Srrm2 T C 17: 23,808,110 L96P unknown Het
Strn A T 17: 78,670,423 L175Q 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
R5413:Osbp UTSW 19 11984491 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'- ACAGCTGTTGTGGGATGATC -3'
(R):5'- ACCACCAGCTCAGATTCTCATG -3'

Sequencing Primer
(F):5'- CAGTGACTGAAGACGTTTTCCGC -3'
(R):5'- GCTCAGATTCTCATGGAAAACTC -3'
Posted On2020-09-15