Incidental Mutation 'R6239:Osbpl7'
ID 505134
Institutional Source Beutler Lab
Gene Symbol Osbpl7
Ensembl Gene ENSMUSG00000038534
Gene Name oxysterol binding protein-like 7
Synonyms 4933437E18Rik
MMRRC Submission 044363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R6239 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 96941459-96959730 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 96943650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000054252] [ENSMUST00000090020] [ENSMUST00000090020] [ENSMUST00000168565] [ENSMUST00000168565]
AlphaFold A2A716
Predicted Effect probably benign
Transcript: ENSMUST00000001485
SMART Domains Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054252
SMART Domains Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000090020
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
PH 174 270 7.76e-11 SMART
low complexity region 533 551 N/A INTRINSIC
Pfam:Oxysterol_BP 599 947 4.6e-135 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000090020
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
PH 174 270 7.76e-11 SMART
low complexity region 533 551 N/A INTRINSIC
Pfam:Oxysterol_BP 599 947 4.6e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142406
Predicted Effect probably null
Transcript: ENSMUST00000168565
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168565
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154084
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T A 1: 78,674,182 (GRCm39) S373T probably benign Het
Aox1 G A 1: 58,344,550 (GRCm39) probably null Het
Apol7c T C 15: 77,410,631 (GRCm39) E105G probably benign Het
B4galnt2 C T 11: 95,767,065 (GRCm39) A184T probably damaging Het
Castor1 A G 11: 4,168,967 (GRCm39) T45A possibly damaging Het
Casz1 A G 4: 149,022,734 (GRCm39) Q600R probably damaging Het
Cep152 A T 2: 125,421,332 (GRCm39) S1133T probably benign Het
Cep295 T C 9: 15,233,927 (GRCm39) I2290V possibly damaging Het
Clmn A T 12: 104,747,104 (GRCm39) H814Q probably benign Het
Creb3l1 A G 2: 91,825,748 (GRCm39) C124R probably damaging Het
Cspg4 A G 9: 56,795,466 (GRCm39) D1067G probably benign Het
Cyp1a1 T A 9: 57,609,361 (GRCm39) V354E probably benign Het
Cyp2t4 A T 7: 26,856,900 (GRCm39) Q280L possibly damaging Het
Dcaf6 A T 1: 165,178,839 (GRCm39) D563E possibly damaging Het
Dennd2a A G 6: 39,465,750 (GRCm39) F607L probably damaging Het
Dennd2d T A 3: 106,402,193 (GRCm39) F288I probably damaging Het
Dnah8 C T 17: 31,029,333 (GRCm39) R4101C probably damaging Het
Dnai4 A C 4: 102,923,640 (GRCm39) N396K probably benign Het
Dnase2a G T 8: 85,635,508 (GRCm39) probably null Het
Dnmbp C T 19: 43,836,624 (GRCm39) V1235I probably benign Het
Eml6 T C 11: 29,699,275 (GRCm39) D1826G probably damaging Het
Fam186b T C 15: 99,178,315 (GRCm39) Y337C probably benign Het
Flg2 A T 3: 93,108,579 (GRCm39) E202D probably benign Het
Fus C T 7: 127,580,606 (GRCm39) R228C possibly damaging Het
Gbf1 A G 19: 46,248,135 (GRCm39) E304G probably benign Het
Ggt1 A G 10: 75,421,515 (GRCm39) probably null Het
Gm19410 A T 8: 36,245,918 (GRCm39) D354V probably damaging Het
Hdac4 T C 1: 91,982,694 (GRCm39) D8G probably benign Het
Hhat A T 1: 192,277,395 (GRCm39) Y355N probably damaging Het
Ift140 T C 17: 25,247,946 (GRCm39) V268A probably benign Het
Il4i1 A G 7: 44,489,836 (GRCm39) R542G probably benign Het
Itga2b C T 11: 102,356,144 (GRCm39) V328I possibly damaging Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Lrit3 A T 3: 129,593,995 (GRCm39) I194N probably damaging Het
Mast4 A G 13: 102,872,717 (GRCm39) L2025P probably benign Het
Neb T C 2: 52,164,000 (GRCm39) N1986S probably benign Het
Pabpc2 T A 18: 39,906,891 (GRCm39) L52Q probably damaging Het
Pald1 T C 10: 61,156,910 (GRCm39) S847G possibly damaging Het
Pcdh12 T C 18: 38,415,454 (GRCm39) D557G probably damaging Het
Prmt2 A T 10: 76,058,425 (GRCm39) L128* probably null Het
Ptpn3 C A 4: 57,249,981 (GRCm39) A172S probably benign Het
Ptpro A T 6: 137,357,606 (GRCm39) T366S probably benign Het
Reg4 A G 3: 98,138,600 (GRCm39) K100R probably null Het
Rims2 A T 15: 39,061,758 (GRCm39) M1L unknown Het
Sele A G 1: 163,878,377 (GRCm39) S239G probably damaging Het
Slc11a1 G A 1: 74,423,274 (GRCm39) R375Q possibly damaging Het
Slc13a3 T C 2: 165,248,617 (GRCm39) T554A unknown Het
Snw1 A T 12: 87,511,398 (GRCm39) N84K probably damaging Het
Stpg4 T C 17: 87,718,667 (GRCm39) Y171C probably benign Het
Styxl2 A T 1: 165,926,388 (GRCm39) S1075T probably damaging Het
Tmem222 T A 4: 132,995,606 (GRCm39) H147L probably damaging Het
Tmprss11f G T 5: 86,681,636 (GRCm39) R206S probably damaging Het
Trappc11 G A 8: 47,982,529 (GRCm39) T70M possibly damaging Het
Trpv4 G A 5: 114,782,887 (GRCm39) T25I probably benign Het
Ttr T C 18: 20,806,692 (GRCm39) V114A possibly damaging Het
Umod C T 7: 119,076,520 (GRCm39) C82Y probably damaging Het
Upk3a T A 15: 84,905,515 (GRCm39) M208K probably damaging Het
Vmn1r59 G A 7: 5,457,539 (GRCm39) P74S probably damaging Het
Vwa3a A T 7: 120,393,457 (GRCm39) R851S probably benign Het
Zfp236 G T 18: 82,675,229 (GRCm39) T421K possibly damaging Het
Zswim9 C A 7: 12,995,257 (GRCm39) G300* probably null Het
Other mutations in Osbpl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Osbpl7 APN 11 96,943,126 (GRCm39) missense probably benign 0.00
IGL02041:Osbpl7 APN 11 96,951,334 (GRCm39) missense probably benign 0.08
IGL02322:Osbpl7 APN 11 96,946,950 (GRCm39) missense probably benign 0.18
IGL02396:Osbpl7 APN 11 96,946,377 (GRCm39) missense probably damaging 1.00
IGL02441:Osbpl7 APN 11 96,958,528 (GRCm39) missense probably damaging 1.00
IGL02668:Osbpl7 APN 11 96,958,031 (GRCm39) missense possibly damaging 0.90
IGL03003:Osbpl7 APN 11 96,941,521 (GRCm39) missense probably benign
R0377:Osbpl7 UTSW 11 96,946,760 (GRCm39) missense probably damaging 0.99
R0549:Osbpl7 UTSW 11 96,958,368 (GRCm39) missense probably damaging 1.00
R0848:Osbpl7 UTSW 11 96,951,350 (GRCm39) missense probably damaging 1.00
R0919:Osbpl7 UTSW 11 96,946,927 (GRCm39) missense possibly damaging 0.92
R1845:Osbpl7 UTSW 11 96,949,954 (GRCm39) missense probably damaging 1.00
R2119:Osbpl7 UTSW 11 96,946,905 (GRCm39) missense probably benign 0.02
R2418:Osbpl7 UTSW 11 96,950,004 (GRCm39) missense probably benign 0.00
R2571:Osbpl7 UTSW 11 96,945,667 (GRCm39) missense probably damaging 1.00
R3746:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3747:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3749:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R4590:Osbpl7 UTSW 11 96,947,098 (GRCm39) missense probably damaging 1.00
R4602:Osbpl7 UTSW 11 96,947,095 (GRCm39) missense possibly damaging 0.77
R4857:Osbpl7 UTSW 11 96,947,495 (GRCm39) intron probably benign
R4898:Osbpl7 UTSW 11 96,950,976 (GRCm39) missense probably damaging 0.98
R5160:Osbpl7 UTSW 11 96,945,382 (GRCm39) missense probably damaging 1.00
R5292:Osbpl7 UTSW 11 96,958,779 (GRCm39) missense probably benign 0.07
R5685:Osbpl7 UTSW 11 96,951,103 (GRCm39) missense probably damaging 1.00
R5786:Osbpl7 UTSW 11 96,956,658 (GRCm39) missense probably damaging 1.00
R6030:Osbpl7 UTSW 11 96,943,087 (GRCm39) missense probably benign 0.15
R6030:Osbpl7 UTSW 11 96,943,087 (GRCm39) missense probably benign 0.15
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6715:Osbpl7 UTSW 11 96,945,425 (GRCm39) missense probably damaging 1.00
R6920:Osbpl7 UTSW 11 96,941,584 (GRCm39) missense probably damaging 0.99
R7179:Osbpl7 UTSW 11 96,941,662 (GRCm39) missense probably benign 0.05
R7222:Osbpl7 UTSW 11 96,951,364 (GRCm39) missense probably damaging 1.00
R7413:Osbpl7 UTSW 11 96,945,704 (GRCm39) critical splice donor site probably null
R7773:Osbpl7 UTSW 11 96,941,548 (GRCm39) missense probably benign
R7806:Osbpl7 UTSW 11 96,946,954 (GRCm39) missense probably benign 0.01
R7884:Osbpl7 UTSW 11 96,951,283 (GRCm39) missense possibly damaging 0.72
R8169:Osbpl7 UTSW 11 96,945,676 (GRCm39) missense probably damaging 1.00
R8289:Osbpl7 UTSW 11 96,947,405 (GRCm39) missense probably benign 0.08
R8341:Osbpl7 UTSW 11 96,950,989 (GRCm39) missense probably damaging 1.00
R8735:Osbpl7 UTSW 11 96,943,194 (GRCm39) missense probably benign
R8738:Osbpl7 UTSW 11 96,946,903 (GRCm39) missense possibly damaging 0.66
X0020:Osbpl7 UTSW 11 96,947,385 (GRCm39) missense probably benign 0.01
X0060:Osbpl7 UTSW 11 96,951,336 (GRCm39) nonsense probably null
X0062:Osbpl7 UTSW 11 96,956,469 (GRCm39) missense probably damaging 0.98
Z1176:Osbpl7 UTSW 11 96,950,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACAGCCCTGGTATTCC -3'
(R):5'- GTTCTTTAAGCATTTCTAGACGATTTC -3'

Sequencing Primer
(F):5'- ACAGCCCTGGTATTCCTGTGTG -3'
(R):5'- TTGAACTCCTGACCTTCGGAAGAG -3'
Posted On 2018-02-28