Incidental Mutation 'R2256:Osbpl6'
ID 243324
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission 040256-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R2256 (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 76414818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 403 (E403G)
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: E549G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: E549G

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: E541G

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: E541G

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: E510G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: E510G

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 noncoding transcript
Transcript: ENSMUST00000124601
Predicted Effect probably damaging
Transcript: ENSMUST00000184442
AA Change: E403G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: E403G

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 0.1010 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (97/99)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 9,008,431 (GRCm39) S1200P probably damaging Het
Acadsb A G 7: 131,045,382 (GRCm39) Y438C probably benign Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Actr3b A G 5: 26,027,403 (GRCm39) T113A possibly damaging Het
Adgrv1 T C 13: 81,654,259 (GRCm39) D2204G probably benign Het
Ago1 A G 4: 126,335,704 (GRCm39) V669A possibly damaging Het
Ang5 T A 14: 44,199,978 (GRCm39) L14Q probably null Het
Aoc1 T C 6: 48,883,374 (GRCm39) Y417H possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atf2 A T 2: 73,675,855 (GRCm39) probably null Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Bend5 A C 4: 111,288,207 (GRCm39) probably benign Het
Camkk2 T C 5: 122,884,398 (GRCm39) D341G probably damaging Het
Cast T A 13: 74,888,024 (GRCm39) I208L probably damaging Het
Ccdc141 A T 2: 76,962,606 (GRCm39) W113R probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cel A G 2: 28,451,204 (GRCm39) F51S probably damaging Het
Cenpc1 A G 5: 86,164,062 (GRCm39) L853S probably damaging Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,637,310 (GRCm39) N1062K probably benign Het
Col3a1 A G 1: 45,360,792 (GRCm39) D74G unknown Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cox6a1 C T 5: 115,486,907 (GRCm39) E35K possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Ddx46 A G 13: 55,795,521 (GRCm39) K177E possibly damaging Het
Dmbt1 T C 7: 130,692,224 (GRCm39) F823L probably benign Het
Drc7 A T 8: 95,801,637 (GRCm39) H666L probably benign Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fhdc1 T C 3: 84,353,353 (GRCm39) E624G probably benign Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Fsip2 T A 2: 82,793,095 (GRCm39) D417E probably benign Het
Garin5b T A 7: 4,774,020 (GRCm39) M31L probably benign Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Gtf2b A G 3: 142,487,185 (GRCm39) D207G probably benign Het
Has3 C A 8: 107,600,888 (GRCm39) L117I probably damaging Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Jmjd1c T A 10: 67,061,073 (GRCm39) I1142N probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mast4 A T 13: 102,872,259 (GRCm39) C2178S possibly damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mmut A T 17: 41,267,210 (GRCm39) I595F probably benign Het
Mphosph9 C T 5: 124,421,722 (GRCm39) V740I probably benign Het
Mtrex A T 13: 113,013,046 (GRCm39) M890K probably damaging Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,625 (GRCm39) I586T probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or4a81 T C 2: 89,618,814 (GRCm39) H294R probably benign Het
Or4k42 T C 2: 111,320,323 (GRCm39) Y60C probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or5g23 T A 2: 85,438,807 (GRCm39) Y149F possibly damaging Het
Or5p54 A T 7: 107,554,244 (GRCm39) Y132F probably damaging Het
Orai2 C T 5: 136,190,454 (GRCm39) V52I probably damaging Het
Osbpl5 A G 7: 143,262,831 (GRCm39) C186R probably damaging Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Parm1 C T 5: 91,741,980 (GRCm39) T116I possibly damaging Het
Pde4dip T A 3: 97,625,500 (GRCm39) Q1366L probably damaging Het
Phgdh T C 3: 98,235,607 (GRCm39) K108E probably benign Het
Pold1 T C 7: 44,183,223 (GRCm39) probably null Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Sdk2 T C 11: 113,721,620 (GRCm39) N1332S probably benign Het
Sema6d A G 2: 124,506,070 (GRCm39) D626G probably damaging Het
Slc18b1 A G 10: 23,686,820 (GRCm39) N212S probably benign Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Sntg2 C T 12: 30,286,687 (GRCm39) W302* probably null Het
Spata22 T A 11: 73,231,301 (GRCm39) M185K possibly damaging Het
Stk35 T A 2: 129,652,427 (GRCm39) Y309* probably null Het
Taar8c A G 10: 23,976,969 (GRCm39) V281A probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmtc4 A T 14: 123,178,820 (GRCm39) I449N probably benign Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Tmub1 G A 5: 24,652,175 (GRCm39) probably benign Het
Tshz2 A G 2: 169,728,397 (GRCm39) T529A probably damaging Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Usp25 A G 16: 76,910,682 (GRCm39) K913E probably benign Het
Vgf A G 5: 137,060,401 (GRCm39) probably benign Het
Vmn2r19 T A 6: 123,306,845 (GRCm39) F451Y probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps9d1 C A 8: 123,971,860 (GRCm39) A582S probably benign Het
Xbp1 T G 11: 5,474,841 (GRCm39) H247Q probably damaging Het
Zfp1008 A T 13: 62,755,210 (GRCm39) I36N probably benign Het
Zfp319 A T 8: 96,055,129 (GRCm39) M358K possibly damaging Het
Zfp438 A T 18: 5,213,508 (GRCm39) N483K probably damaging Het
Zfp518b T C 5: 38,828,979 (GRCm39) N1009D possibly damaging Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Zgrf1 T A 3: 127,355,646 (GRCm39) S291T 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
R1459:Osbpl6 UTSW 2 76,385,409 (GRCm39) missense probably benign 0.01
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
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'- GCATCCTGTAGAAGACACTCAGG -3'
(R):5'- TGCCACCTGGATAGATTATGC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TGCCACCTGGATAGATTATGCAAAAG -3'
Posted On 2014-10-16