Incidental Mutation 'R4192:Osbpl6'
ID 318342
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission 041023-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4192 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 76406508-76600647 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76585229 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 499 (L499Q)
Ref Sequence ENSEMBL: ENSMUSP00000139363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]
AlphaFold Q8BXR9
Predicted Effect probably damaging
Transcript: ENSMUST00000077972
AA Change: L645Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: L645Q

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
PH 87 183 3.65e-7 SMART
low complexity region 200 211 N/A INTRINSIC
coiled coil region 255 285 N/A INTRINSIC
low complexity region 537 550 N/A INTRINSIC
Pfam:Oxysterol_BP 603 951 1.4e-135 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111929
AA Change: L637Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: L637Q

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
PH 87 183 3.65e-7 SMART
low complexity region 200 211 N/A INTRINSIC
coiled coil region 255 285 N/A INTRINSIC
coiled coil region 441 472 N/A INTRINSIC
low complexity region 529 542 N/A INTRINSIC
Pfam:Oxysterol_BP 595 944 1.1e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111930
AA Change: L606Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: L606Q

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
PH 87 183 3.65e-7 SMART
low complexity region 200 211 N/A INTRINSIC
coiled coil region 255 285 N/A INTRINSIC
coiled coil region 410 441 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
Pfam:Oxysterol_BP 564 913 1e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184442
AA Change: L499Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: L499Q

DomainStartEndE-ValueType
Blast:PH 1 70 8e-41 BLAST
low complexity region 87 98 N/A INTRINSIC
coiled coil region 142 172 N/A INTRINSIC
coiled coil region 303 334 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
Pfam:Oxysterol_BP 457 794 2.6e-135 PFAM
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (40/40)
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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(2) : Gene trapped(2)

 

Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 36,096,579 (GRCm38) R178L possibly damaging Het
Acot4 T C 12: 84,043,174 (GRCm38) probably benign Het
Add3 C A 19: 53,242,524 (GRCm38) D543E probably benign Het
Angpt4 A C 2: 151,943,318 (GRCm38) D418A probably benign Het
Ano8 A T 8: 71,483,292 (GRCm38) V260D probably damaging Het
Cfh C T 1: 140,102,716 (GRCm38) R860H possibly damaging Het
Csmd3 T C 15: 47,847,271 (GRCm38) D1536G probably damaging Het
Dnajb9 A T 12: 44,207,077 (GRCm38) D182E probably benign Het
Epb42 G T 2: 121,030,089 (GRCm38) probably null Het
Fam185a T A 5: 21,425,124 (GRCm38) probably benign Het
Fer1l6 A G 15: 58,647,149 (GRCm38) D1710G probably damaging Het
Gabra2 G A 5: 71,007,998 (GRCm38) P210S probably benign Het
Gm8369 C T 19: 11,502,232 (GRCm38) P9S probably damaging Het
Il17ra A G 6: 120,481,511 (GRCm38) D541G probably damaging Het
Ints4 T G 7: 97,507,733 (GRCm38) H337Q probably damaging Het
Itgam A G 7: 128,064,732 (GRCm38) T44A probably benign Het
Lyst C A 13: 13,740,513 (GRCm38) T3264N probably damaging Het
Macf1 A G 4: 123,473,042 (GRCm38) F1077S possibly damaging Het
Myo3a T A 2: 22,407,377 (GRCm38) F728I probably damaging Het
Nacad T C 11: 6,605,534 (GRCm38) E72G probably benign Het
Nkain3 G A 4: 20,485,003 (GRCm38) Q25* probably null Het
Oca2 T C 7: 56,297,249 (GRCm38) F342S probably damaging Het
Or10d1c T A 9: 38,983,017 (GRCm38) Q9L probably benign Het
Pcdhgb8 G C 18: 37,763,541 (GRCm38) D555H probably damaging Het
Peak1 A T 9: 56,258,741 (GRCm38) N634K probably damaging Het
Pitpnm3 T C 11: 72,051,959 (GRCm38) K818R possibly damaging Het
Rab3gap1 T A 1: 127,925,470 (GRCm38) probably benign Het
Rcc1l T C 5: 134,155,809 (GRCm38) T385A probably benign Het
Rrm2 T C 12: 24,708,378 (GRCm38) I11T probably benign Het
Scnn1b A G 7: 121,902,739 (GRCm38) T207A possibly damaging Het
Spata31f3 A T 4: 42,874,185 (GRCm38) probably benign Het
Syt12 T A 19: 4,447,681 (GRCm38) probably benign Het
Tmprss6 A T 15: 78,446,657 (GRCm38) probably null Het
Ttbk1 A T 17: 46,479,247 (GRCm38) C91S probably damaging Het
Ube2q2l T C 6: 136,401,437 (GRCm38) T132A probably benign Het
Vit A G 17: 78,586,826 (GRCm38) H219R probably benign Het
Vmn1r27 A C 6: 58,215,827 (GRCm38) I14R probably damaging Het
Other mutations in Osbpl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Osbpl6 APN 2 76,590,439 (GRCm38) missense probably damaging 1.00
IGL01109:Osbpl6 APN 2 76,549,527 (GRCm38) missense probably damaging 1.00
IGL01288:Osbpl6 APN 2 76,564,823 (GRCm38) missense probably damaging 0.98
IGL01717:Osbpl6 APN 2 76,588,594 (GRCm38) missense probably damaging 1.00
IGL02146:Osbpl6 APN 2 76,549,750 (GRCm38) missense possibly damaging 0.90
IGL02597:Osbpl6 APN 2 76,555,974 (GRCm38) nonsense probably null
IGL02652:Osbpl6 APN 2 76,593,454 (GRCm38) missense probably damaging 1.00
IGL02867:Osbpl6 APN 2 76,595,870 (GRCm38) splice site probably benign
IGL03143:Osbpl6 APN 2 76,548,372 (GRCm38) missense probably damaging 1.00
3-1:Osbpl6 UTSW 2 76,586,151 (GRCm38) missense probably damaging 1.00
R0085:Osbpl6 UTSW 2 76,593,414 (GRCm38) missense probably benign 0.30
R0201:Osbpl6 UTSW 2 76,546,042 (GRCm38) missense possibly damaging 0.92
R0573:Osbpl6 UTSW 2 76,590,391 (GRCm38) missense probably damaging 1.00
R0644:Osbpl6 UTSW 2 76,594,840 (GRCm38) missense probably damaging 1.00
R0855:Osbpl6 UTSW 2 76,591,839 (GRCm38) missense probably damaging 1.00
R0855:Osbpl6 UTSW 2 76,585,133 (GRCm38) missense probably damaging 1.00
R1017:Osbpl6 UTSW 2 76,549,719 (GRCm38) missense probably damaging 1.00
R1459:Osbpl6 UTSW 2 76,555,065 (GRCm38) missense probably benign 0.01
R1505:Osbpl6 UTSW 2 76,579,242 (GRCm38) missense probably damaging 1.00
R1588:Osbpl6 UTSW 2 76,579,216 (GRCm38) missense probably benign
R1786:Osbpl6 UTSW 2 76,586,214 (GRCm38) missense probably damaging 1.00
R1863:Osbpl6 UTSW 2 76,585,058 (GRCm38) missense probably damaging 1.00
R2131:Osbpl6 UTSW 2 76,586,214 (GRCm38) missense probably damaging 1.00
R2132:Osbpl6 UTSW 2 76,586,214 (GRCm38) missense probably damaging 1.00
R2133:Osbpl6 UTSW 2 76,586,214 (GRCm38) missense probably damaging 1.00
R2233:Osbpl6 UTSW 2 76,586,769 (GRCm38) missense probably damaging 0.99
R2235:Osbpl6 UTSW 2 76,586,769 (GRCm38) missense probably damaging 0.99
R2256:Osbpl6 UTSW 2 76,584,474 (GRCm38) missense probably damaging 1.00
R2294:Osbpl6 UTSW 2 76,577,079 (GRCm38) missense possibly damaging 0.81
R3023:Osbpl6 UTSW 2 76,586,733 (GRCm38) missense probably damaging 1.00
R4544:Osbpl6 UTSW 2 76,584,492 (GRCm38) missense possibly damaging 0.84
R4546:Osbpl6 UTSW 2 76,584,492 (GRCm38) missense possibly damaging 0.84
R4664:Osbpl6 UTSW 2 76,568,208 (GRCm38) missense probably benign 0.02
R4764:Osbpl6 UTSW 2 76,546,000 (GRCm38) missense probably damaging 1.00
R4884:Osbpl6 UTSW 2 76,549,539 (GRCm38) missense probably damaging 1.00
R5080:Osbpl6 UTSW 2 76,524,085 (GRCm38) missense probably benign 0.31
R5430:Osbpl6 UTSW 2 76,586,138 (GRCm38) missense probably damaging 1.00
R5614:Osbpl6 UTSW 2 76,568,109 (GRCm38) missense probably damaging 1.00
R5807:Osbpl6 UTSW 2 76,584,513 (GRCm38) missense probably damaging 0.98
R5956:Osbpl6 UTSW 2 76,549,512 (GRCm38) missense probably damaging 1.00
R6394:Osbpl6 UTSW 2 76,555,954 (GRCm38) missense probably benign 0.00
R6430:Osbpl6 UTSW 2 76,579,276 (GRCm38) missense probably damaging 1.00
R6450:Osbpl6 UTSW 2 76,564,830 (GRCm38) missense possibly damaging 0.90
R7116:Osbpl6 UTSW 2 76,595,881 (GRCm38) missense probably benign 0.06
R7385:Osbpl6 UTSW 2 76,549,450 (GRCm38) missense probably damaging 1.00
R7422:Osbpl6 UTSW 2 76,593,386 (GRCm38) missense probably damaging 1.00
R7561:Osbpl6 UTSW 2 76,586,154 (GRCm38) missense probably damaging 1.00
R7829:Osbpl6 UTSW 2 76,593,387 (GRCm38) missense probably damaging 1.00
R7921:Osbpl6 UTSW 2 76,585,097 (GRCm38) missense probably damaging 1.00
R8183:Osbpl6 UTSW 2 76,585,060 (GRCm38) missense probably damaging 1.00
R8219:Osbpl6 UTSW 2 76,555,903 (GRCm38) missense probably damaging 0.98
R8548:Osbpl6 UTSW 2 76,579,222 (GRCm38) missense possibly damaging 0.88
R8682:Osbpl6 UTSW 2 76,577,081 (GRCm38) missense probably benign 0.00
R8935:Osbpl6 UTSW 2 76,549,456 (GRCm38) missense possibly damaging 0.60
R9157:Osbpl6 UTSW 2 76,552,124 (GRCm38) missense probably benign 0.00
R9303:Osbpl6 UTSW 2 76,548,372 (GRCm38) missense probably damaging 1.00
R9305:Osbpl6 UTSW 2 76,548,372 (GRCm38) missense probably damaging 1.00
R9526:Osbpl6 UTSW 2 76,585,259 (GRCm38) missense probably damaging 0.98
R9536:Osbpl6 UTSW 2 76,586,210 (GRCm38) missense probably benign 0.00
R9564:Osbpl6 UTSW 2 76,595,977 (GRCm38) missense probably damaging 1.00
R9571:Osbpl6 UTSW 2 76,594,847 (GRCm38) missense probably benign 0.03
R9585:Osbpl6 UTSW 2 76,524,094 (GRCm38) missense probably benign
R9771:Osbpl6 UTSW 2 76,593,427 (GRCm38) missense possibly damaging 0.89
R9790:Osbpl6 UTSW 2 76,555,017 (GRCm38) missense probably damaging 1.00
R9791:Osbpl6 UTSW 2 76,555,017 (GRCm38) missense probably damaging 1.00
Z1177:Osbpl6 UTSW 2 76,540,179 (GRCm38) missense probably benign 0.01
Z31818:Osbpl6 UTSW 2 76,555,082 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATTATGAAGCCAGAGCGGG -3'
(R):5'- GAACAGGCCATGGAAACCTC -3'

Sequencing Primer
(F):5'- GGGAAGCATCACTCTCTCTG -3'
(R):5'- CGTGAGTAGCTTCCAATAAGAGTATC -3'
Posted On 2015-06-10