Incidental Mutation 'R2023:Osbpl2'
ID 220092
Institutional Source Beutler Lab
Gene Symbol Osbpl2
Ensembl Gene ENSMUSG00000039050
Gene Name oxysterol binding protein-like 2
Synonyms C130070J12Rik, ORP-2
MMRRC Submission 040032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R2023 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 179761099-179804473 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 179791969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
AlphaFold Q8BX94
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 97% (60/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,247 (GRCm39) S447P possibly damaging Het
9930111J21Rik2 A G 11: 48,911,144 (GRCm39) F430L probably benign Het
Acap2 A G 16: 30,938,233 (GRCm39) V297A probably damaging Het
Adam3 G A 8: 25,179,479 (GRCm39) R613C possibly damaging Het
Akt1 C T 12: 112,626,071 (GRCm39) R67Q probably benign Het
Ambp T C 4: 63,069,702 (GRCm39) Y108C probably damaging Het
Apob A G 12: 8,061,090 (GRCm39) I3158V probably benign Het
Bank1 T C 3: 136,031,679 (GRCm39) T8A probably benign Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc88a G T 11: 29,413,546 (GRCm39) E695* probably null Het
Cep68 A C 11: 20,189,888 (GRCm39) S375A probably benign Het
Cfap44 A G 16: 44,236,375 (GRCm39) I417V probably benign Het
Chrna2 T A 14: 66,379,677 (GRCm39) H5Q probably benign Het
Cog7 A T 7: 121,536,193 (GRCm39) I549K probably damaging Het
Col28a1 C A 6: 8,083,783 (GRCm39) S558I possibly damaging Het
Cyp4f14 A G 17: 33,125,505 (GRCm39) I385T probably damaging Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm5616 A G 9: 48,361,928 (GRCm39) noncoding transcript Het
Gm5709 T C 3: 59,543,142 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Itpr3 T A 17: 27,321,785 (GRCm39) M1054K possibly damaging Het
Kars1 T C 8: 112,728,484 (GRCm39) N200S probably benign Het
Kdm2a C A 19: 4,372,492 (GRCm39) R951L probably damaging Het
Ldhd T A 8: 112,356,578 (GRCm39) H61L probably damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Micall2 A G 5: 139,703,266 (GRCm39) V190A possibly damaging Het
Mis18bp1 A T 12: 65,195,883 (GRCm39) V627E probably damaging Het
Muc4 A T 16: 32,574,054 (GRCm39) T711S probably benign Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nox3 A G 17: 3,744,296 (GRCm39) probably benign Het
Or4b1d G T 2: 89,969,200 (GRCm39) C94* probably null Het
Or5p63 A G 7: 107,811,049 (GRCm39) L229P probably damaging Het
Or6c1b T A 10: 129,273,451 (GRCm39) Y257N probably damaging Het
Pamr1 T A 2: 102,464,880 (GRCm39) M343K probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Pgr T A 9: 8,958,399 (GRCm39) V802D probably damaging Het
Pgs1 A G 11: 117,893,228 (GRCm39) E55G probably benign Het
Pkd2 T A 5: 104,614,744 (GRCm39) probably null Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Ptprd C T 4: 75,875,341 (GRCm39) E1240K probably damaging Het
Recql5 G A 11: 115,784,466 (GRCm39) T878I probably benign Het
Rnf17 A G 14: 56,669,036 (GRCm39) D233G possibly damaging Het
Sectm1a A G 11: 120,960,408 (GRCm39) probably benign Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Srcin1 A G 11: 97,416,872 (GRCm39) S931P probably benign Het
Tcof1 C T 18: 60,966,605 (GRCm39) G329R probably damaging Het
Thsd7a G A 6: 12,327,535 (GRCm39) H1446Y probably benign Het
Tlr11 A G 14: 50,600,026 (GRCm39) T671A probably damaging Het
Tmem171 C A 13: 98,828,733 (GRCm39) W139L probably damaging Het
Vmn2r101 C T 17: 19,810,368 (GRCm39) R385* probably null Het
Vps13c A T 9: 67,843,567 (GRCm39) probably benign Het
Wdr87-ps G T 7: 29,230,959 (GRCm39) noncoding transcript Het
Zfp287 A C 11: 62,605,808 (GRCm39) Y366* probably null Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp523 A G 17: 28,419,978 (GRCm39) probably benign Het
Zfp667 A C 7: 6,308,416 (GRCm39) K361N possibly 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
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
R3739: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'- AGGTAGAAAGCTTTGTTGATGCTAC -3'
(R):5'- ACATCTGTCAGCTCACCTGG -3'

Sequencing Primer
(F):5'- CTTTGTTGATGCTACAAAGGAAAGG -3'
(R):5'- GTCTTCCCATAGACAGCCTGG -3'
Posted On 2014-08-25