Incidental Mutation 'R4764:Osbpl6'
ID 357077
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission 042405-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4764 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 76236852-76430991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76376344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 73 (I73K)
Ref Sequence ENSEMBL: ENSMUSP00000077123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]
AlphaFold Q8BXR9
Predicted Effect probably damaging
Transcript: ENSMUST00000077972
AA Change: I73K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: I73K

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: I73K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: I73K

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: I73K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: I73K

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: ENSMUST00000128034
Predicted Effect probably benign
Transcript: ENSMUST00000184442
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359

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 0.1525 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T G 5: 146,122,029 (GRCm39) S18R probably benign Het
2010315B03Rik A C 9: 124,056,396 (GRCm39) V176G probably benign Het
Abcb1a T A 5: 8,765,732 (GRCm39) probably null Het
Acad11 C A 9: 103,953,076 (GRCm39) P102T probably damaging Het
Aggf1 T A 13: 95,501,221 (GRCm39) D387V probably damaging Het
Akr1c13 G A 13: 4,248,496 (GRCm39) V234I probably benign Het
Alg5 A G 3: 54,653,894 (GRCm39) Y210C possibly damaging Het
Arl8a C A 1: 135,074,837 (GRCm39) A41E probably benign Het
Axin1 C A 17: 26,392,730 (GRCm39) T337K possibly damaging Het
Bdp1 A G 13: 100,192,775 (GRCm39) L1353P probably damaging Het
Bptf A T 11: 106,934,520 (GRCm39) V2851E probably damaging Het
C9 A T 15: 6,489,124 (GRCm39) E160D probably damaging Het
Cbx6 T C 15: 79,712,881 (GRCm39) D182G probably damaging Het
Cep57l1 T C 10: 41,597,678 (GRCm39) R242G possibly damaging Het
Chst8 T C 7: 34,375,149 (GRCm39) D230G probably damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Cst12 A G 2: 148,631,393 (GRCm39) E38G possibly damaging Het
Disp1 G T 1: 182,869,660 (GRCm39) A920E probably damaging Het
Dtna T G 18: 23,668,206 (GRCm39) probably null Het
Elp3 T A 14: 65,820,378 (GRCm39) H97L probably damaging Het
Exoc8 A G 8: 125,624,314 (GRCm39) F18L possibly damaging Het
Extl3 T C 14: 65,314,769 (GRCm39) T138A probably benign Het
Foxi2 G T 7: 135,012,396 (GRCm39) G95C probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Frem1 A T 4: 82,907,426 (GRCm39) D811E probably damaging Het
Frmd4a A T 2: 4,608,259 (GRCm39) E709V probably damaging Het
Fscn3 T A 6: 28,436,200 (GRCm39) *499K probably null Het
Galc C T 12: 98,209,003 (GRCm39) G217D possibly damaging Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm57858 T G 3: 36,064,809 (GRCm39) *521C probably null Het
Hnrnpul1 A G 7: 25,442,436 (GRCm39) S269P probably benign Het
Hrh1 T C 6: 114,457,496 (GRCm39) V259A probably benign Het
Lef1 T C 3: 130,978,382 (GRCm39) S167P probably benign Het
Mtf2 T C 5: 108,241,218 (GRCm39) I248T probably benign Het
Muc2 C T 7: 141,299,345 (GRCm39) T130M possibly damaging Het
Myo16 T C 8: 10,485,880 (GRCm39) F653S probably damaging Het
Myo1e T C 9: 70,250,417 (GRCm39) probably null Het
Myo5a G T 9: 75,023,618 (GRCm39) probably benign Het
Nlrp1b T A 11: 71,073,489 (GRCm39) D118V probably damaging Het
Npat T C 9: 53,483,920 (GRCm39) F1412S probably damaging Het
Onecut3 G T 10: 80,331,541 (GRCm39) A234S unknown Het
Or1ad1 G A 11: 50,875,602 (GRCm39) E25K probably benign Het
Or8b37 T G 9: 37,959,436 (GRCm39) L306R probably benign Het
Otog C T 7: 45,937,943 (GRCm39) T1884I probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pias4 A G 10: 80,999,868 (GRCm39) Y62H possibly damaging Het
Pknox1 T A 17: 31,809,687 (GRCm39) V97D possibly damaging Het
Plekhf1 A G 7: 37,921,022 (GRCm39) V182A probably damaging Het
Plscr4 T C 9: 92,366,833 (GRCm39) V149A probably damaging Het
Polr2l A T 7: 141,053,309 (GRCm39) L35Q probably damaging Het
Ppp3ca T C 3: 136,596,250 (GRCm39) I305T probably damaging Het
Ptprg G A 14: 12,122,068 (GRCm38) A311T probably benign Het
Raet1e T G 10: 22,057,231 (GRCm39) I185R probably damaging Het
Rims1 A C 1: 22,518,543 (GRCm39) V520G probably damaging Het
Rp1 A T 1: 4,416,101 (GRCm39) D1670E probably damaging Het
Rps6ka1 A T 4: 133,587,868 (GRCm39) I352N probably damaging Het
Rtp3 T C 9: 110,816,418 (GRCm39) probably benign Het
Ryr3 T A 2: 112,563,376 (GRCm39) probably null Het
Sall3 A G 18: 81,017,691 (GRCm39) V79A probably damaging Het
Sdsl C T 5: 120,600,119 (GRCm39) V93M probably damaging Het
Slc7a13 A G 4: 19,819,390 (GRCm39) N197D probably benign Het
Slit1 T A 19: 41,709,483 (GRCm39) R137* probably null Het
Stxbp5 C A 10: 9,646,367 (GRCm39) R115L probably damaging Het
Tcea1 G A 1: 4,965,167 (GRCm39) R290H probably damaging Het
Tmem132e A T 11: 82,325,338 (GRCm39) T113S probably damaging Het
Tpp1 A T 7: 105,398,458 (GRCm39) I286N probably damaging Het
Trio G A 15: 27,732,624 (GRCm39) R3086* probably null Het
Usp22 T A 11: 61,051,462 (GRCm39) N294Y probably damaging Het
Usp44 T A 10: 93,681,933 (GRCm39) S128T probably benign Het
Zc3h7b T C 15: 81,653,384 (GRCm39) probably null Het
Zfhx2 T C 14: 55,304,372 (GRCm39) Y1204C possibly damaging 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
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
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'- TGGGAAACTCCTAGGAGCTTC -3'
(R):5'- CACACTCATAAACTCCAGTGATCTTTG -3'

Sequencing Primer
(F):5'- GGAGCTTCACTTGAAAGTCCATGAC -3'
(R):5'- TGTTTCCCACCTAATAGCAAGTCAG -3'
Posted On 2015-11-11