Incidental Mutation 'YA93:Osbpl5'
ID 83
Institutional Source Beutler Lab
Gene Symbol Osbpl5
Ensembl Gene ENSMUSG00000037606
Gene Name oxysterol binding protein-like 5
Synonyms ORP5, 1110006M06Rik, Obph1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # YA93 of strain inept
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 143242499-143310722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143247607 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Isoleucine to Phenylalanine at position 720 (I720F)
Ref Sequence ENSEMBL: ENSMUSP00000113362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499]
AlphaFold Q9ER64
Predicted Effect probably benign
Transcript: ENSMUST00000020411
AA Change: I744F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: I744F

DomainStartEndE-ValueType
PH 151 269 1.02e-14 SMART
Pfam:Oxysterol_BP 394 738 2.9e-91 PFAM
transmembrane domain 879 897 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119499
AA Change: I720F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: I720F

DomainStartEndE-ValueType
coiled coil region 92 122 N/A INTRINSIC
PH 127 245 1.02e-14 SMART
Pfam:Oxysterol_BP 369 724 1e-93 PFAM
transmembrane domain 855 873 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140502
Meta Mutation Damage Score 0.0934 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 81.3%
Validation Efficiency 88% (101/115)
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 that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt4 T A 7: 140,647,324 (GRCm39) I358K possibly damaging Homo
Ccdc168 A G 1: 44,104,245 (GRCm39) probably benign Het
Chodl A G 16: 78,738,170 (GRCm39) H46R probably benign Homo
Cubn C A 2: 13,388,803 (GRCm39) R1468L probably benign Het
Dlg5 G A 14: 24,205,201 (GRCm39) probably benign Het
Dntt A C 19: 41,041,626 (GRCm39) M437L probably benign Het
Grsf1 G A 5: 88,821,594 (GRCm39) P157S probably damaging Het
Lct C T 1: 128,229,057 (GRCm39) G812D probably damaging Het
Pbld2 T A 10: 62,890,224 (GRCm39) Y211N possibly damaging Het
Peg3 T A 7: 6,714,646 (GRCm39) E192V probably damaging Het
Ptbp3 T C 4: 59,524,413 (GRCm39) T38A possibly damaging Het
Rpap3 T A 15: 97,591,114 (GRCm39) E241V possibly damaging Het
Scara3 C A 14: 66,168,398 (GRCm39) M406I probably damaging Het
Serpinf2 C A 11: 75,323,510 (GRCm39) V399L probably benign Het
Other mutations in Osbpl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Osbpl5 APN 7 143,269,430 (GRCm39) nonsense probably null
IGL01996:Osbpl5 APN 7 143,261,081 (GRCm39) critical splice donor site probably null
IGL02135:Osbpl5 APN 7 143,258,862 (GRCm39) missense probably damaging 1.00
IGL02331:Osbpl5 APN 7 143,263,532 (GRCm39) missense probably benign 0.22
IGL02993:Osbpl5 APN 7 143,253,071 (GRCm39) critical splice acceptor site probably null
R0240:Osbpl5 UTSW 7 143,295,406 (GRCm39) splice site probably null
R0601:Osbpl5 UTSW 7 143,263,286 (GRCm39) missense probably damaging 0.98
R0609:Osbpl5 UTSW 7 143,248,558 (GRCm39) missense probably damaging 0.99
R0659:Osbpl5 UTSW 7 143,258,767 (GRCm39) missense probably damaging 0.97
R1532:Osbpl5 UTSW 7 143,248,817 (GRCm39) missense probably benign
R1579:Osbpl5 UTSW 7 143,262,939 (GRCm39) missense possibly damaging 0.93
R1595:Osbpl5 UTSW 7 143,256,955 (GRCm39) missense possibly damaging 0.88
R1666:Osbpl5 UTSW 7 143,262,776 (GRCm39) missense probably damaging 1.00
R1668:Osbpl5 UTSW 7 143,262,776 (GRCm39) missense probably damaging 1.00
R1713:Osbpl5 UTSW 7 143,248,110 (GRCm39) missense probably damaging 1.00
R1868:Osbpl5 UTSW 7 143,269,510 (GRCm39) missense probably damaging 1.00
R1901:Osbpl5 UTSW 7 143,256,918 (GRCm39) missense possibly damaging 0.83
R1902:Osbpl5 UTSW 7 143,256,918 (GRCm39) missense possibly damaging 0.83
R1903:Osbpl5 UTSW 7 143,256,918 (GRCm39) missense possibly damaging 0.83
R1911:Osbpl5 UTSW 7 143,243,662 (GRCm39) missense probably benign 0.00
R1982:Osbpl5 UTSW 7 143,295,408 (GRCm39) critical splice donor site probably null
R2014:Osbpl5 UTSW 7 143,295,429 (GRCm39) missense probably damaging 0.98
R2076:Osbpl5 UTSW 7 143,262,881 (GRCm39) missense probably damaging 1.00
R2192:Osbpl5 UTSW 7 143,247,596 (GRCm39) nonsense probably null
R2256:Osbpl5 UTSW 7 143,262,831 (GRCm39) missense probably damaging 1.00
R4271:Osbpl5 UTSW 7 143,249,339 (GRCm39) nonsense probably null
R4418:Osbpl5 UTSW 7 143,263,552 (GRCm39) nonsense probably null
R4450:Osbpl5 UTSW 7 143,248,643 (GRCm39) missense probably benign 0.00
R4573:Osbpl5 UTSW 7 143,248,053 (GRCm39) missense probably benign 0.00
R5325:Osbpl5 UTSW 7 143,245,665 (GRCm39) missense probably damaging 0.99
R5439:Osbpl5 UTSW 7 143,295,433 (GRCm39) missense possibly damaging 0.83
R5617:Osbpl5 UTSW 7 143,246,684 (GRCm39) missense possibly damaging 0.89
R5775:Osbpl5 UTSW 7 143,258,266 (GRCm39) missense probably benign 0.00
R5935:Osbpl5 UTSW 7 143,310,695 (GRCm39) start gained probably benign
R6906:Osbpl5 UTSW 7 143,248,065 (GRCm39) missense probably damaging 0.99
R7076:Osbpl5 UTSW 7 143,263,577 (GRCm39) missense probably benign 0.12
R7117:Osbpl5 UTSW 7 143,263,520 (GRCm39) missense probably benign 0.01
R7292:Osbpl5 UTSW 7 143,255,015 (GRCm39) missense probably damaging 1.00
R7555:Osbpl5 UTSW 7 143,248,670 (GRCm39) missense possibly damaging 0.65
R7594:Osbpl5 UTSW 7 143,247,534 (GRCm39) missense probably benign 0.02
R8028:Osbpl5 UTSW 7 143,269,472 (GRCm39) missense probably benign 0.00
R8061:Osbpl5 UTSW 7 143,256,461 (GRCm39) missense probably benign 0.03
R8314:Osbpl5 UTSW 7 143,248,833 (GRCm39) missense probably benign 0.05
R8482:Osbpl5 UTSW 7 143,258,731 (GRCm39) missense probably benign 0.12
R9202:Osbpl5 UTSW 7 143,254,498 (GRCm39) missense probably benign 0.45
R9430:Osbpl5 UTSW 7 143,263,526 (GRCm39) missense probably benign 0.01
R9687:Osbpl5 UTSW 7 143,247,598 (GRCm39) missense possibly damaging 0.86
R9735:Osbpl5 UTSW 7 143,248,673 (GRCm39) missense possibly damaging 0.76
R9749:Osbpl5 UTSW 7 143,249,308 (GRCm39) missense probably benign 0.14
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at position 2470 of the Osbpl5 transcript in exon 19 of 22 total exons. Four transcripts of the Osbpl5 gene are displayed on Ensembl. The mutated nucleotide causes an isoleucine to phenylalanine substitution at amino acid 744 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
The Osbpl5 gene encodes an 898 amino acid protein that belongs to the OSBP (oxysterol binding protein) family (NP_077251). On Uniprot (Q9ER64), the protein is 874 amino acids long and is missing 24 amino acids from the N-terminus. The protein contains a lipid-binding pleckstrin homology (PH) domain at amino acids 126-243 when using the Uniprot record. 
 
The I744F change is predicted to be possibly damaging by the PolyPhen program.
Posted On 2010-03-02