Incidental Mutation 'R1459:Osbpl6'
ID 161941
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission 039514-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R1459 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 76236852-76430991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76385409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 281 (N281S)
Ref Sequence ENSEMBL: ENSMUSP00000077123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]
AlphaFold Q8BXR9
Predicted Effect probably benign
Transcript: ENSMUST00000077972
AA Change: N281S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: N281S

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 benign
Transcript: ENSMUST00000111929
AA Change: N281S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: N281S

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 benign
Transcript: ENSMUST00000111930
AA Change: N281S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: N281S

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 benign
Transcript: ENSMUST00000184442
AA Change: N168S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: N168S

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 0.0684 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 96% (87/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik C T 4: 62,450,578 (GRCm39) R51W probably damaging Het
Abcb1a T A 5: 8,752,920 (GRCm39) L557Q probably damaging Het
Abcb4 T C 5: 8,968,662 (GRCm39) F334L possibly damaging Het
Adamts14 T A 10: 61,034,583 (GRCm39) T1102S probably benign Het
Adamtsl1 T C 4: 86,344,102 (GRCm39) Y1719H probably damaging Het
Adcyap1 T C 17: 93,507,550 (GRCm39) probably null Het
Ankrd13c T A 3: 157,677,947 (GRCm39) L219Q probably damaging Het
Ano3 C A 2: 110,711,174 (GRCm39) A97S probably benign Het
Apaf1 T C 10: 90,898,022 (GRCm39) N245S probably benign Het
Apob A G 12: 8,056,047 (GRCm39) T1510A probably benign Het
Apob A G 12: 8,061,937 (GRCm39) D3473G possibly damaging Het
Arfgap3 G A 15: 83,191,138 (GRCm39) T12I probably benign Het
Bend4 A G 5: 67,557,418 (GRCm39) V466A probably damaging Het
Bend7 G A 2: 4,749,239 (GRCm39) E119K probably damaging Het
Capn5 G T 7: 97,781,049 (GRCm39) R243S possibly damaging Het
Cd84 A G 1: 171,679,510 (GRCm39) I63V probably benign Het
Cd86 T A 16: 36,449,350 (GRCm39) T16S probably benign Het
Cdc42bpb A G 12: 111,262,734 (GRCm39) probably benign Het
Cep20 G A 16: 14,122,380 (GRCm39) T128I possibly damaging Het
Cep95 C T 11: 106,708,781 (GRCm39) S26L probably damaging Het
Cldn19 C T 4: 119,112,810 (GRCm39) A14V probably damaging Het
Cluap1 T A 16: 3,755,453 (GRCm39) M356K probably damaging Het
Coq7 C T 7: 118,109,260 (GRCm39) G263S unknown Het
Ctnnd2 A C 15: 30,847,445 (GRCm39) T679P probably damaging Het
Dnah10 A G 5: 124,820,750 (GRCm39) D528G possibly damaging Het
Dvl1 T A 4: 155,938,476 (GRCm39) N133K probably damaging Het
Efcab7 T G 4: 99,769,744 (GRCm39) H550Q probably null Het
Fastkd5 C T 2: 130,456,717 (GRCm39) M624I probably damaging Het
Fbxo42 T C 4: 140,895,073 (GRCm39) V12A probably benign Het
Gabarapl1 T A 6: 129,515,635 (GRCm39) M91K possibly damaging Het
Gas7 A G 11: 67,552,902 (GRCm39) N154S probably damaging Het
Gm21814 T A 6: 149,483,650 (GRCm39) noncoding transcript Het
Gnl3 G A 14: 30,739,803 (GRCm39) R12C probably damaging Het
Golga2 T G 2: 32,187,807 (GRCm39) probably null Het
Grk3 T A 5: 113,062,878 (GRCm39) R656S probably benign Het
Gsap T A 5: 21,412,236 (GRCm39) probably benign Het
H60c T C 10: 3,210,240 (GRCm39) Q103R probably benign Het
Hnrnpr T A 4: 136,056,755 (GRCm39) S252T probably damaging Het
Itgb4 A T 11: 115,869,937 (GRCm39) T40S probably benign Het
Krtap27-1 T C 16: 88,468,302 (GRCm39) N81D probably benign Het
Lilrb4a T A 10: 51,367,683 (GRCm39) L75Q probably benign Het
Lrp2 T A 2: 69,290,821 (GRCm39) E3546D probably damaging Het
Lrp2 T A 2: 69,313,738 (GRCm39) D2331V probably damaging Het
Lzts2 T A 19: 45,009,893 (GRCm39) V9E probably damaging Het
Matr3 T A 18: 35,717,709 (GRCm39) D302E probably benign Het
Mcoln2 A G 3: 145,897,979 (GRCm39) probably null Het
Metap2 T C 10: 93,704,811 (GRCm39) D272G probably damaging Het
Mitf A G 6: 97,987,428 (GRCm39) D337G probably damaging Het
Mrtfb T C 16: 13,219,433 (GRCm39) V693A possibly damaging Het
Msh2 A G 17: 87,985,771 (GRCm39) E116G probably benign Het
Nlrp10 T A 7: 108,523,555 (GRCm39) M642L probably benign Het
Noxa1 G T 2: 24,982,558 (GRCm39) Q86K probably benign Het
Nrap T C 19: 56,372,562 (GRCm39) T48A probably benign Het
Nup160 T A 2: 90,520,494 (GRCm39) H308Q probably damaging Het
Osbpl11 T C 16: 33,056,699 (GRCm39) L711P probably damaging Het
Pcnp C T 16: 55,844,703 (GRCm39) E66K possibly damaging Het
Phf11 T A 14: 59,482,227 (GRCm39) E175D probably damaging Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Plekhg4 T C 8: 106,108,431 (GRCm39) L1053S probably damaging Het
Plekhh2 G T 17: 84,918,203 (GRCm39) E1271* probably null Het
Ppp2r2b T A 18: 42,871,055 (GRCm39) Y82F probably damaging Het
Prkd3 T C 17: 79,278,796 (GRCm39) D430G probably damaging Het
Prl7d1 C T 13: 27,893,240 (GRCm39) D224N possibly damaging Het
Ptpdc1 A T 13: 48,740,173 (GRCm39) N419K possibly damaging Het
Serinc5 T A 13: 92,797,695 (GRCm39) probably null Het
Sipa1 A G 19: 5,701,692 (GRCm39) L981P probably damaging Het
Slc16a7 A T 10: 125,066,489 (GRCm39) C383* probably null Het
Slc19a1 C G 10: 76,878,369 (GRCm39) Y301* probably null Het
Slc22a14 A T 9: 119,052,827 (GRCm39) V14E possibly damaging Het
Slpi C A 2: 164,196,837 (GRCm39) C95F probably damaging Het
Smurf2 G A 11: 106,743,333 (GRCm39) H225Y possibly damaging Het
Son T C 16: 91,452,230 (GRCm39) S326P possibly damaging Het
Sptb T A 12: 76,658,657 (GRCm39) K1262M probably benign Het
Sugp2 T A 8: 70,696,714 (GRCm39) probably benign Het
Tatdn2 T A 6: 113,687,031 (GRCm39) H747Q probably damaging Het
Tcn2 C A 11: 3,877,516 (GRCm39) R44L probably benign Het
Tenm3 G A 8: 48,689,006 (GRCm39) R2194C probably damaging Het
Tnks2 T A 19: 36,822,931 (GRCm39) probably benign Het
Top3a A T 11: 60,650,188 (GRCm39) I120N probably damaging Het
Umodl1 T A 17: 31,201,232 (GRCm39) probably benign Het
Umodl1 T C 17: 31,205,478 (GRCm39) V662A probably benign Het
Ush2a T C 1: 188,595,048 (GRCm39) S3827P probably benign Het
Vasn T A 16: 4,466,473 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,055,908 (GRCm39) C743* probably null Het
Vmn2r79 C A 7: 86,687,002 (GRCm39) H794Q probably benign Het
Other mutations in Osbpl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Osbpl6 APN 2 76,420,783 (GRCm39) missense probably damaging 1.00
IGL01109:Osbpl6 APN 2 76,379,871 (GRCm39) missense probably damaging 1.00
IGL01288:Osbpl6 APN 2 76,395,167 (GRCm39) missense probably damaging 0.98
IGL01717:Osbpl6 APN 2 76,418,938 (GRCm39) missense probably damaging 1.00
IGL02146:Osbpl6 APN 2 76,380,094 (GRCm39) missense possibly damaging 0.90
IGL02597:Osbpl6 APN 2 76,386,318 (GRCm39) nonsense probably null
IGL02652:Osbpl6 APN 2 76,423,798 (GRCm39) missense probably damaging 1.00
IGL02867:Osbpl6 APN 2 76,426,214 (GRCm39) splice site probably benign
IGL03143:Osbpl6 APN 2 76,378,716 (GRCm39) missense probably damaging 1.00
3-1:Osbpl6 UTSW 2 76,416,495 (GRCm39) missense probably damaging 1.00
R0085:Osbpl6 UTSW 2 76,423,758 (GRCm39) missense probably benign 0.30
R0201:Osbpl6 UTSW 2 76,376,386 (GRCm39) missense possibly damaging 0.92
R0573:Osbpl6 UTSW 2 76,420,735 (GRCm39) missense probably damaging 1.00
R0644:Osbpl6 UTSW 2 76,425,184 (GRCm39) missense probably damaging 1.00
R0855:Osbpl6 UTSW 2 76,422,183 (GRCm39) missense probably damaging 1.00
R0855:Osbpl6 UTSW 2 76,415,477 (GRCm39) missense probably damaging 1.00
R1017:Osbpl6 UTSW 2 76,380,063 (GRCm39) missense probably damaging 1.00
R1505:Osbpl6 UTSW 2 76,409,586 (GRCm39) missense probably damaging 1.00
R1588:Osbpl6 UTSW 2 76,409,560 (GRCm39) missense probably benign
R1786:Osbpl6 UTSW 2 76,416,558 (GRCm39) missense probably damaging 1.00
R1863:Osbpl6 UTSW 2 76,415,402 (GRCm39) missense probably damaging 1.00
R2131:Osbpl6 UTSW 2 76,416,558 (GRCm39) missense probably damaging 1.00
R2132:Osbpl6 UTSW 2 76,416,558 (GRCm39) missense probably damaging 1.00
R2133:Osbpl6 UTSW 2 76,416,558 (GRCm39) missense probably damaging 1.00
R2233:Osbpl6 UTSW 2 76,417,113 (GRCm39) missense probably damaging 0.99
R2235:Osbpl6 UTSW 2 76,417,113 (GRCm39) missense probably damaging 0.99
R2256:Osbpl6 UTSW 2 76,414,818 (GRCm39) missense probably damaging 1.00
R2294:Osbpl6 UTSW 2 76,407,423 (GRCm39) missense possibly damaging 0.81
R3023:Osbpl6 UTSW 2 76,417,077 (GRCm39) missense probably damaging 1.00
R4192:Osbpl6 UTSW 2 76,415,573 (GRCm39) missense probably damaging 1.00
R4544:Osbpl6 UTSW 2 76,414,836 (GRCm39) missense possibly damaging 0.84
R4546:Osbpl6 UTSW 2 76,414,836 (GRCm39) missense possibly damaging 0.84
R4664:Osbpl6 UTSW 2 76,398,552 (GRCm39) missense probably benign 0.02
R4764:Osbpl6 UTSW 2 76,376,344 (GRCm39) missense probably damaging 1.00
R4884:Osbpl6 UTSW 2 76,379,883 (GRCm39) missense probably damaging 1.00
R5080:Osbpl6 UTSW 2 76,354,429 (GRCm39) missense probably benign 0.31
R5430:Osbpl6 UTSW 2 76,416,482 (GRCm39) missense probably damaging 1.00
R5614:Osbpl6 UTSW 2 76,398,453 (GRCm39) missense probably damaging 1.00
R5807:Osbpl6 UTSW 2 76,414,857 (GRCm39) missense probably damaging 0.98
R5956:Osbpl6 UTSW 2 76,379,856 (GRCm39) missense probably damaging 1.00
R6394:Osbpl6 UTSW 2 76,386,298 (GRCm39) missense probably benign 0.00
R6430:Osbpl6 UTSW 2 76,409,620 (GRCm39) missense probably damaging 1.00
R6450:Osbpl6 UTSW 2 76,395,174 (GRCm39) missense possibly damaging 0.90
R7116:Osbpl6 UTSW 2 76,426,225 (GRCm39) missense probably benign 0.06
R7385:Osbpl6 UTSW 2 76,379,794 (GRCm39) missense probably damaging 1.00
R7422:Osbpl6 UTSW 2 76,423,730 (GRCm39) missense probably damaging 1.00
R7561:Osbpl6 UTSW 2 76,416,498 (GRCm39) missense probably damaging 1.00
R7829:Osbpl6 UTSW 2 76,423,731 (GRCm39) missense probably damaging 1.00
R7921:Osbpl6 UTSW 2 76,415,441 (GRCm39) missense probably damaging 1.00
R8183:Osbpl6 UTSW 2 76,415,404 (GRCm39) missense probably damaging 1.00
R8219:Osbpl6 UTSW 2 76,386,247 (GRCm39) missense probably damaging 0.98
R8548:Osbpl6 UTSW 2 76,409,566 (GRCm39) missense possibly damaging 0.88
R8682:Osbpl6 UTSW 2 76,407,425 (GRCm39) missense probably benign 0.00
R8935:Osbpl6 UTSW 2 76,379,800 (GRCm39) missense possibly damaging 0.60
R9157:Osbpl6 UTSW 2 76,382,468 (GRCm39) missense probably benign 0.00
R9303:Osbpl6 UTSW 2 76,378,716 (GRCm39) missense probably damaging 1.00
R9305:Osbpl6 UTSW 2 76,378,716 (GRCm39) missense probably damaging 1.00
R9526:Osbpl6 UTSW 2 76,415,603 (GRCm39) missense probably damaging 0.98
R9536:Osbpl6 UTSW 2 76,416,554 (GRCm39) missense probably benign 0.00
R9564:Osbpl6 UTSW 2 76,426,321 (GRCm39) missense probably damaging 1.00
R9571:Osbpl6 UTSW 2 76,425,191 (GRCm39) missense probably benign 0.03
R9585:Osbpl6 UTSW 2 76,354,438 (GRCm39) missense probably benign
R9771:Osbpl6 UTSW 2 76,423,771 (GRCm39) missense possibly damaging 0.89
R9790:Osbpl6 UTSW 2 76,385,361 (GRCm39) missense probably damaging 1.00
R9791:Osbpl6 UTSW 2 76,385,361 (GRCm39) missense probably damaging 1.00
Z1177:Osbpl6 UTSW 2 76,370,523 (GRCm39) missense probably benign 0.01
Z31818:Osbpl6 UTSW 2 76,385,426 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCATGAGATGAAATCCGTGAG -3'
(R):5'- CGTGAGCCTGTGAATAGTAACTTCCC -3'

Sequencing Primer
(F):5'- ATCTCATTGCCAGCAGCG -3'
(R):5'- GTGAATAGTAACTTCCCTTTTGAGTG -3'
Posted On 2014-03-14