Incidental Mutation 'R7594:Osbpl5'
ID 587627
Institutional Source Beutler Lab
Gene Symbol Osbpl5
Ensembl Gene ENSMUSG00000037606
Gene Name oxysterol binding protein-like 5
Synonyms ORP5, 1110006M06Rik, Obph1
MMRRC Submission 045670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7594 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143242499-143310722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143247534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 768 (L768Q)
Ref Sequence ENSEMBL: ENSMUSP00000020411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499]
AlphaFold Q9ER64
Predicted Effect probably benign
Transcript: ENSMUST00000020411
AA Change: L768Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: L768Q

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: L744Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: L744Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
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
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Acsm3 A G 7: 119,384,213 (GRCm39) probably null Het
Acvr2a T A 2: 48,784,749 (GRCm39) L345* probably null Het
App T C 16: 84,876,890 (GRCm39) D167G unknown Het
Arhgef33 A G 17: 80,677,734 (GRCm39) D427G probably damaging Het
Arid2 T C 15: 96,288,875 (GRCm39) S1675P probably damaging Het
Atp8a1 T C 5: 67,808,935 (GRCm39) Y985C Het
AW209491 A G 13: 14,811,831 (GRCm39) D228G probably benign Het
Casc3 G A 11: 98,712,311 (GRCm39) A117T probably benign Het
Cass4 C T 2: 172,271,568 (GRCm39) P645S probably benign Het
Ccar2 A T 14: 70,379,243 (GRCm39) Y553* probably null Het
Cox16 A T 12: 81,521,352 (GRCm39) probably null Het
Cpeb3 A T 19: 37,151,551 (GRCm39) V275E possibly damaging Het
Dido1 A G 2: 180,316,905 (GRCm39) V634A probably benign Het
Dnajb1 G A 8: 84,336,473 (GRCm39) S81N probably benign Het
Dst A G 1: 34,252,094 (GRCm39) K2262E probably damaging Het
Eya3 T C 4: 132,422,136 (GRCm39) V237A probably benign Het
Fbxo31 T A 8: 122,279,107 (GRCm39) D460V probably damaging Het
Fcgbpl1 T C 7: 27,830,885 (GRCm39) C33R probably damaging Het
Gabrg3 A T 7: 56,632,443 (GRCm39) N168K possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm10134 T C 2: 28,396,372 (GRCm39) M89T unknown Het
Kif17 T C 4: 138,005,236 (GRCm39) L267P probably damaging Het
Ksr2 C A 5: 117,693,131 (GRCm39) T193N possibly damaging Het
Lmtk2 T C 5: 144,110,564 (GRCm39) L428P probably damaging Het
Mdn1 G T 4: 32,696,359 (GRCm39) L1247F probably benign Het
Med24 T C 11: 98,605,923 (GRCm39) Y323C probably damaging Het
Mthfd2 A G 6: 83,283,665 (GRCm39) V339A probably benign Het
Mtus2 G T 5: 148,014,216 (GRCm39) R336S probably benign Het
Muc16 T C 9: 18,556,358 (GRCm39) T3312A unknown Het
Nacad A G 11: 6,552,457 (GRCm39) S245P probably damaging Het
Nacc1 T C 8: 85,401,631 (GRCm39) D394G probably damaging Het
Nfatc2 A G 2: 168,365,268 (GRCm39) V582A probably damaging Het
Nid2 T A 14: 19,818,791 (GRCm39) D428E probably benign Het
Or10ag57 A G 2: 87,218,613 (GRCm39) H188R probably damaging Het
Or4a80 T A 2: 89,582,906 (GRCm39) T89S probably benign Het
Or56a4 A G 7: 104,806,880 (GRCm39) L3S probably benign Het
Plch2 C T 4: 155,091,484 (GRCm39) V210I probably damaging Het
Plekhh1 C T 12: 79,123,277 (GRCm39) T1153I possibly damaging Het
Ppp1r14c T C 10: 3,316,670 (GRCm39) S2P possibly damaging Het
Pramel26 A T 4: 143,539,286 (GRCm39) I69N probably damaging Het
Psmd5 G T 2: 34,750,741 (GRCm39) H239Q probably benign Het
Ptcd2 C A 13: 99,456,790 (GRCm39) A345S possibly damaging Het
Sap30l G A 11: 57,700,947 (GRCm39) probably null Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Slc2a9 A G 5: 38,508,634 (GRCm39) I470T probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Syne1 A G 10: 5,165,190 (GRCm39) probably null Het
Tg T A 15: 66,601,432 (GRCm39) D1766E probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tlr6 T C 5: 65,110,594 (GRCm39) Y771C probably damaging Het
Tnrc6b T A 15: 80,764,508 (GRCm39) V670E possibly damaging Het
Top2b A G 14: 16,428,587 (GRCm38) T1522A probably benign Het
Tpcn1 A G 5: 120,694,595 (GRCm39) M158T possibly damaging Het
Ttn T C 2: 76,557,186 (GRCm39) I29940V probably benign Het
Ttn G A 2: 76,581,698 (GRCm39) T23065I probably damaging Het
Umodl1 A G 17: 31,173,779 (GRCm39) S20G probably benign Het
Uts2r G T 11: 121,052,191 (GRCm39) V352F possibly damaging Het
Vmn1r67 T A 7: 10,181,342 (GRCm39) M202K possibly damaging Het
Vmn2r107 T C 17: 20,580,635 (GRCm39) V524A probably benign Het
Zc3h12d C A 10: 7,738,382 (GRCm39) D229E probably damaging Het
Zfp541 A G 7: 15,810,311 (GRCm39) D116G probably damaging Het
Zfp971 A G 2: 177,675,793 (GRCm39) E464G 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
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
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'- CATTGCCAGGTAGGGTTGAG -3'
(R):5'- CTTCCTTGTAACCCCTGAATGG -3'

Sequencing Primer
(F):5'- CCAGGTAGGGTTGAGCTATCAC -3'
(R):5'- AACCCCTGAATGGTGGTTATC -3'
Posted On 2019-10-24