Incidental Mutation 'R8314:Osbpl5'
ID 641566
Institutional Source Beutler Lab
Gene Symbol Osbpl5
Ensembl Gene ENSMUSG00000037606
Gene Name oxysterol binding protein-like 5
Synonyms ORP5, 1110006M06Rik, Obph1
MMRRC Submission 067719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8314 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143242499-143310722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143248833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 608 (I608V)
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: I608V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: I608V

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: I584V

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: I584V

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: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Ak4 C T 4: 101,320,782 (GRCm39) T197M possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Arhgef2 T A 3: 88,528,600 (GRCm39) I12N probably benign Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdh8 T C 8: 99,898,011 (GRCm39) D434G probably damaging Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Prkaa1 A G 15: 5,208,354 (GRCm39) S541G probably damaging Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rabep1 A G 11: 70,784,486 (GRCm39) D207G possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F 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
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'- TCACTCGGAGTCCAGAAGAG -3'
(R):5'- CAGACTCTATAGGTTTGGGTCCAG -3'

Sequencing Primer
(F):5'- AGTCCAGAAGAGCTCGGTGC -3'
(R):5'- TTTGGGTCCAGGTCAAGACAG -3'
Posted On 2020-07-28