Incidental Mutation 'R0659:Osbpl5'
ID 61788
Institutional Source Beutler Lab
Gene Symbol Osbpl5
Ensembl Gene ENSMUSG00000037606
Gene Name oxysterol binding protein-like 5
Synonyms ORP5, 1110006M06Rik, Obph1
MMRRC Submission 038844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0659 (G1)
Quality Score 160
Status Validated
Chromosome 7
Chromosomal Location 143242499-143310722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143258767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000113362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499] [ENSMUST00000134056]
AlphaFold Q9ER64
Predicted Effect probably damaging
Transcript: ENSMUST00000020411
AA Change: S292P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: S292P

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 damaging
Transcript: ENSMUST00000119499
AA Change: S268P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: S268P

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 probably benign
Transcript: ENSMUST00000134056
SMART Domains Protein: ENSMUSP00000115141
Gene: ENSMUSG00000037606

DomainStartEndE-ValueType
PDB:1V88|A 122 187 7e-33 PDB
SCOP:d1fgya_ 125 187 3e-10 SMART
Blast:PH 127 187 5e-38 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149736
Meta Mutation Damage Score 0.1008 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,140,565 (GRCm39) probably benign Het
Ahnak A G 19: 8,992,366 (GRCm39) H4550R possibly damaging Het
Anxa6 A G 11: 54,874,173 (GRCm39) V591A probably damaging Het
Apol7c A G 15: 77,410,473 (GRCm39) S158P probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Cacna2d4 A G 6: 119,322,067 (GRCm39) probably benign Het
Cd109 T C 9: 78,587,452 (GRCm39) probably benign Het
Cep78 C T 19: 15,933,554 (GRCm39) V675M probably damaging Het
Ces4a T C 8: 105,871,554 (GRCm39) probably benign Het
Chpf A G 1: 75,454,367 (GRCm39) V137A probably damaging Het
Comp T C 8: 70,831,751 (GRCm39) S457P possibly damaging Het
Cth A G 3: 157,625,752 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,733,563 (GRCm39) L314P probably damaging Het
Ets1 C T 9: 32,649,589 (GRCm39) R309C probably damaging Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gm9875 T G 2: 13,562,995 (GRCm39) F108V unknown Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Greb1 T C 12: 16,730,213 (GRCm39) Y1738C probably damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hdac5 A T 11: 102,086,850 (GRCm39) V70E probably damaging Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hsd17b3 T C 13: 64,221,750 (GRCm39) T92A possibly damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Lin28a T C 4: 133,735,410 (GRCm39) probably benign Het
Mapk6 T C 9: 75,305,244 (GRCm39) S58G probably damaging Het
Mmp21 G A 7: 133,279,396 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Mto1 T A 9: 78,364,790 (GRCm39) I343N probably damaging Het
Mto1 C T 9: 78,378,072 (GRCm39) T638M probably damaging Het
Myo18b T C 5: 112,908,193 (GRCm39) K2027E possibly damaging Het
Myo7a T C 7: 97,703,545 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,256,703 (GRCm39) I107T probably damaging Het
Or5k17 C A 16: 58,746,772 (GRCm39) R54L possibly damaging Het
Or8g37 T G 9: 39,731,112 (GRCm39) M59R possibly damaging Het
Pih1d1 T A 7: 44,809,399 (GRCm39) S289T probably benign Het
Pik3c2b A G 1: 132,998,938 (GRCm39) D353G probably damaging Het
Ppef2 A G 5: 92,378,368 (GRCm39) L609P probably damaging Het
Prune2 A T 19: 17,100,199 (GRCm39) D1901V probably damaging Het
Rdh9 T C 10: 127,612,444 (GRCm39) Y31H possibly damaging Het
Slc5a9 T A 4: 111,741,068 (GRCm39) Y526F possibly damaging Het
Slitrk5 A G 14: 111,918,121 (GRCm39) K582E probably benign Het
Sult1c2 A T 17: 54,138,806 (GRCm39) M257K probably damaging Het
Tasor2 T C 13: 3,624,448 (GRCm39) D1834G probably damaging Het
Tmem132d A G 5: 128,061,351 (GRCm39) I417T possibly damaging Het
Tmem229b T C 12: 79,011,908 (GRCm39) T8A probably benign Het
Tmem237 T C 1: 59,153,253 (GRCm39) I89M possibly damaging Het
Tnfrsf17 A T 16: 11,137,683 (GRCm39) D140V probably damaging Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Trio A G 15: 27,831,485 (GRCm39) L194P probably damaging Het
Vmn2r74 T C 7: 85,605,122 (GRCm39) probably benign Het
Vps13c T A 9: 67,828,217 (GRCm39) M1457K probably benign Het
Zfhx2 A G 14: 55,311,258 (GRCm39) C479R possibly damaging Het
Zfp420 T A 7: 29,574,964 (GRCm39) C395S probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zranb2 A G 3: 157,247,400 (GRCm39) S193G 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
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
YA93:Osbpl5 UTSW 7 143,247,607 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACACTACGTGACCTGTATTTGCACC -3'
(R):5'- TGGAAGGCTATTTCAGACAACAGGC -3'

Sequencing Primer
(F):5'- ACTGCTCCTGTTTATCAGTAAGG -3'
(R):5'- CAACAGGCAGATTAAGGTTCC -3'
Posted On 2013-07-30