Incidental Mutation 'R1579:Osbpl5'
ID 171295
Institutional Source Beutler Lab
Gene Symbol Osbpl5
Ensembl Gene ENSMUSG00000037606
Gene Name oxysterol binding protein-like 5
Synonyms ORP5, 1110006M06Rik, Obph1
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1579 (G1)
Quality Score 200
Status Not validated
Chromosome 7
Chromosomal Location 143242499-143310722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143262939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 150 (T150A)
Ref Sequence ENSEMBL: ENSMUSP00000115141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499] [ENSMUST00000134056]
AlphaFold Q9ER64
Predicted Effect possibly damaging
Transcript: ENSMUST00000020411
AA Change: T162A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: T162A

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 possibly damaging
Transcript: ENSMUST00000119499
AA Change: T138A

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: T138A

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 possibly damaging
Transcript: ENSMUST00000134056
AA Change: T150A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115141
Gene: ENSMUSG00000037606
AA Change: T150A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153864
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aknad1 T A 3: 108,659,452 (GRCm39) Y155* probably null Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Cdan1 A G 2: 120,561,220 (GRCm39) F183L probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myh14 A T 7: 44,305,118 (GRCm39) probably null Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nbn T A 4: 15,964,289 (GRCm39) D121E probably damaging Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Or5w20 G A 2: 87,727,286 (GRCm39) A248T probably benign Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly damaging 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
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'- AGAGTTTGAAGCAGAAGCCGTCC -3'
(R):5'- CTGACAGCCTAAAGGTAAGCAGGTG -3'

Sequencing Primer
(F):5'- AGCAGAAGCCGTCCTTCTTG -3'
(R):5'- TACACAGTTTGAGTGGACCC -3'
Posted On 2014-04-13