Incidental Mutation 'R3739:Osbpl2'
ID 270273
Institutional Source Beutler Lab
Gene Symbol Osbpl2
Ensembl Gene ENSMUSG00000039050
Gene Name oxysterol binding protein-like 2
Synonyms C130070J12Rik, ORP-2
MMRRC Submission 040725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R3739 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179761099-179804473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179803353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 475 (R475H)
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
AlphaFold Q8BX94
Predicted Effect probably damaging
Transcript: ENSMUST00000040668
AA Change: R475H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: R475H

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 75 474 8.4e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142376
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ahnak2 T C 12: 112,740,992 (GRCm39) I1027V probably benign Het
Alox12e A G 11: 70,210,668 (GRCm39) L318P probably damaging Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Anks1b T A 10: 89,869,078 (GRCm39) I46N probably damaging Het
Apoa5 G C 9: 46,180,415 (GRCm39) W7S probably damaging Het
Arnt2 T C 7: 83,993,009 (GRCm39) H177R probably null Het
Cacna1c T C 6: 118,718,913 (GRCm39) D220G probably benign Het
Dst C T 1: 34,307,975 (GRCm39) probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Galnt1 A G 18: 24,404,712 (GRCm39) T350A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gfm1 T C 3: 67,364,033 (GRCm39) I503T probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Itgbl1 T C 14: 124,204,090 (GRCm39) F394L probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Klra17 T A 6: 129,850,328 (GRCm39) I41F probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ms4a18 A T 19: 10,988,863 (GRCm39) H164Q probably damaging Het
Mybbp1a A G 11: 72,339,563 (GRCm39) H882R possibly damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Myo18a A G 11: 77,736,441 (GRCm39) D1514G probably damaging Het
Nsun2 T C 13: 69,777,757 (GRCm39) I441T probably benign Het
Ntng1 A T 3: 109,842,007 (GRCm39) D255E probably damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pclo A C 5: 14,730,913 (GRCm39) K3138N unknown Het
Pcsk7 A G 9: 45,838,057 (GRCm39) T572A possibly damaging Het
Pex11a C T 7: 79,389,918 (GRCm39) R56H possibly damaging Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Taf3 T C 2: 9,956,469 (GRCm39) E566G possibly damaging Het
Tnr T C 1: 159,750,983 (GRCm39) S1315P possibly damaging Het
Trappc11 T C 8: 47,967,138 (GRCm39) E412G probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Trpm7 A G 2: 126,693,441 (GRCm39) V48A probably damaging Het
Tubb6 A G 18: 67,535,121 (GRCm39) Y340C probably damaging Het
Vmn1r197 C A 13: 22,512,746 (GRCm39) Y222* probably null Het
Vmn2r97 T C 17: 19,148,413 (GRCm39) S103P probably damaging Het
Zfp362 C G 4: 128,680,682 (GRCm39) probably benign Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Osbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Osbpl2 APN 2 179,792,051 (GRCm39) missense possibly damaging 0.60
IGL00824:Osbpl2 APN 2 179,792,060 (GRCm39) missense probably benign 0.08
IGL01385:Osbpl2 APN 2 179,778,873 (GRCm39) missense probably benign 0.10
IGL01449:Osbpl2 APN 2 179,786,987 (GRCm39) splice site probably benign
R0735:Osbpl2 UTSW 2 179,792,083 (GRCm39) splice site probably benign
R1315:Osbpl2 UTSW 2 179,790,395 (GRCm39) missense probably damaging 0.98
R1583:Osbpl2 UTSW 2 179,790,256 (GRCm39) missense probably damaging 0.99
R2023:Osbpl2 UTSW 2 179,791,969 (GRCm39) splice site probably null
R2276:Osbpl2 UTSW 2 179,790,319 (GRCm39) missense possibly damaging 0.96
R3737:Osbpl2 UTSW 2 179,803,353 (GRCm39) missense probably damaging 1.00
R4035:Osbpl2 UTSW 2 179,803,353 (GRCm39) missense probably damaging 1.00
R6111:Osbpl2 UTSW 2 179,791,994 (GRCm39) missense probably benign 0.38
R7324:Osbpl2 UTSW 2 179,791,994 (GRCm39) missense probably benign 0.38
R7400:Osbpl2 UTSW 2 179,795,114 (GRCm39) missense probably benign
R8379:Osbpl2 UTSW 2 179,778,895 (GRCm39) missense probably damaging 1.00
R8508:Osbpl2 UTSW 2 179,797,136 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AAAGCTAGCCGGCCAGTTAC -3'
(R):5'- CAACTGGAGCTTCATGAAGGG -3'

Sequencing Primer
(F):5'- TAGCCGGCCAGTTACTGTCAG -3'
(R):5'- CTTCATGAAGGGGCTGCAAC -3'
Posted On 2015-03-18