Incidental Mutation 'R1315:Osbpl2'
ID 157518
Institutional Source Beutler Lab
Gene Symbol Osbpl2
Ensembl Gene ENSMUSG00000039050
Gene Name oxysterol binding protein-like 2
Synonyms C130070J12Rik, ORP-2
MMRRC Submission 039381-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R1315 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 179761099-179804473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179790395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 223 (L223P)
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
AlphaFold Q8BX94
Predicted Effect probably damaging
Transcript: ENSMUST00000040668
AA Change: L223P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: L223P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Ecd A G 14: 20,387,128 (GRCm39) V202A probably benign Het
Golgb1 T C 16: 36,735,262 (GRCm39) M1503T probably benign Het
Kif23 G A 9: 61,831,270 (GRCm39) probably null Het
Muc5ac C T 7: 141,361,060 (GRCm39) T1457I probably damaging Het
Or8k24 C A 2: 86,216,518 (GRCm39) M81I possibly damaging Het
Ppip5k1 T C 2: 121,142,486 (GRCm39) D1301G probably benign Het
Rrp1b T C 17: 32,275,613 (GRCm39) F387L probably benign Het
Sltm T C 9: 70,450,347 (GRCm39) V49A probably benign Het
Spdl1 T A 11: 34,704,234 (GRCm39) K533M unknown Het
Wnt8b T C 19: 44,500,462 (GRCm39) C350R 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
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
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'- TATCTAAGGGAGGGCAGACCATGC -3'
(R):5'- AGGAGATGTGACTCATCCACCTCAG -3'

Sequencing Primer
(F):5'- AAGTGGATGACCCTTTGCTATG -3'
(R):5'- TCAGTGGACACAGGAACTCTC -3'
Posted On 2014-02-18