Incidental Mutation 'R4884:Osbpl6'
ID 375494
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission 041978-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4884 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 76236852-76430991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76379883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 158 (I158F)
Ref Sequence ENSEMBL: ENSMUSP00000107561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]
AlphaFold Q8BXR9
Predicted Effect probably damaging
Transcript: ENSMUST00000077972
AA Change: I158F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: I158F

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: I158F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: I158F

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: I158F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: I158F

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: I45F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: I45F

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aadat C T 8: 60,979,663 (GRCm39) P175L probably damaging Het
Acot7 G T 4: 152,270,664 (GRCm39) probably benign Het
Adad1 T G 3: 37,130,813 (GRCm39) F259V possibly damaging Het
Adora2a A G 10: 75,161,879 (GRCm39) Y6C probably null Het
Ahnak A G 19: 8,990,118 (GRCm39) probably benign Het
Ankar A T 1: 72,737,966 (GRCm39) M72K probably damaging Het
Ankrd45 A G 1: 160,988,270 (GRCm39) K176R possibly damaging Het
Ap3m2 T C 8: 23,293,997 (GRCm39) K18E probably damaging Het
Apol10b C T 15: 77,473,006 (GRCm39) R16Q possibly damaging Het
Atp2b2 T A 6: 113,819,147 (GRCm39) T49S possibly damaging Het
B3gntl1 T G 11: 121,520,795 (GRCm39) Y206S possibly damaging Het
BC061237 G A 14: 44,738,666 (GRCm39) E22K possibly damaging Het
Bmp1 A G 14: 70,712,655 (GRCm39) V959A probably benign Het
Cep295 T C 9: 15,263,056 (GRCm39) E169G probably damaging Het
Cfap20dc G A 14: 8,578,394 (GRCm38) T116I probably damaging Het
Cfap65 T G 1: 74,942,283 (GRCm39) E1757A possibly damaging Het
Cgrrf1 T A 14: 47,090,912 (GRCm39) I216N possibly damaging Het
Clstn2 T A 9: 97,681,448 (GRCm39) D64V probably damaging Het
Col27a1 T A 4: 63,194,197 (GRCm39) D851E possibly damaging Het
Coq9 C T 8: 95,579,822 (GRCm39) P259L probably benign Het
Cps1 A G 1: 67,216,183 (GRCm39) N836S probably benign Het
Cracd A T 5: 76,996,682 (GRCm39) I47F probably damaging Het
Crebbp T C 16: 3,906,239 (GRCm39) K1588E probably damaging Het
Cspg4 T C 9: 56,805,353 (GRCm39) W2055R probably benign Het
Cyp3a44 A T 5: 145,714,792 (GRCm39) M453K probably damaging Het
Dhx36 T G 3: 62,391,681 (GRCm39) D555A probably damaging Het
Dock2 A T 11: 34,216,248 (GRCm39) Y1219N probably damaging Het
Dpy19l2 A T 9: 24,539,476 (GRCm39) C492* probably null Het
Dusp22 A G 13: 30,852,813 (GRCm39) N16S probably benign Het
Epha1 A G 6: 42,337,668 (GRCm39) M805T probably damaging Het
Espl1 C T 15: 102,232,505 (GRCm39) A2071V possibly damaging Het
Fbxo11 T A 17: 88,299,761 (GRCm39) D863V probably damaging Het
Fbxo7 T A 10: 85,865,014 (GRCm39) Y106N probably damaging Het
Fhip1a A C 3: 85,590,918 (GRCm39) C178G probably damaging Het
Fst A G 13: 114,590,920 (GRCm39) V282A probably damaging Het
Gfra3 T A 18: 34,844,304 (GRCm39) M79L probably benign Het
Glp1r T C 17: 31,155,240 (GRCm39) V409A probably damaging Het
Gm10799 T A 2: 103,898,552 (GRCm39) D51V probably damaging Het
Gm572 C A 4: 148,751,819 (GRCm39) T228N possibly damaging Het
Grip1 C T 10: 119,911,211 (GRCm39) T643M probably damaging Het
Hdgfl2 C T 17: 56,403,265 (GRCm39) R222C possibly damaging Het
Hecw2 T A 1: 53,990,000 (GRCm39) I125F probably benign Het
Hipk1 A G 3: 103,651,338 (GRCm39) S1153P possibly damaging Het
Insm2 T C 12: 55,646,546 (GRCm39) S97P probably damaging Het
Iqca1 A G 1: 90,067,759 (GRCm39) V164A probably benign Het
Kcna6 T C 6: 126,715,689 (GRCm39) D400G probably benign Het
Kctd1 T C 18: 15,107,311 (GRCm39) Y122C probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra2 T C 6: 131,207,165 (GRCm39) Y148C probably damaging Het
Krtap31-1 G A 11: 99,799,310 (GRCm39) C171Y unknown Het
Ldlrap1 C T 4: 134,486,282 (GRCm39) R59Q probably benign Het
Ltb T C 17: 35,414,234 (GRCm39) I3T probably benign Het
Macf1 T C 4: 123,348,802 (GRCm39) I2477V probably benign Het
Mpdz A T 4: 81,279,713 (GRCm39) I39N probably damaging Het
Mtcl3 A T 10: 29,072,537 (GRCm39) N610Y probably damaging Het
Mycbp2 A G 14: 103,448,731 (GRCm39) I1776T probably damaging Het
Myof T A 19: 37,930,805 (GRCm39) E994V probably damaging Het
Myom3 A G 4: 135,510,366 (GRCm39) E553G possibly damaging Het
Mysm1 A T 4: 94,847,185 (GRCm39) C504S probably damaging Het
Nectin3 A T 16: 46,269,249 (GRCm39) H384Q probably benign Het
Net1 G A 13: 3,934,252 (GRCm39) R482* probably null Het
Nit1 T C 1: 171,171,263 (GRCm39) K193R probably null Het
Nlgn1 A G 3: 25,966,838 (GRCm39) V205A probably damaging Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nup50l A T 6: 96,141,793 (GRCm39) M417K probably damaging Het
Nup62 T A 7: 44,478,289 (GRCm39) S101R probably damaging Het
Or13c7 T C 4: 43,854,890 (GRCm39) S194P probably damaging Het
Or1l8 G T 2: 36,818,024 (GRCm39) T34K possibly damaging Het
Or4c3 A G 2: 89,851,987 (GRCm39) V141A probably benign Het
Or51b17 T A 7: 103,542,862 (GRCm39) I27F probably benign Het
Or56b2j T A 7: 104,353,068 (GRCm39) I98N probably damaging Het
Or5b111 A T 19: 13,291,034 (GRCm39) I205N probably benign Het
Or5b124 A T 19: 13,611,391 (GRCm39) K305N probably benign Het
Or5p80 A T 7: 108,229,819 (GRCm39) I207F probably damaging Het
Pcbp4 A G 9: 106,339,301 (GRCm39) T103A probably benign Het
Pcdha2 T A 18: 37,073,953 (GRCm39) L528Q probably damaging Het
Pcdhga5 T C 18: 37,827,680 (GRCm39) S43P probably damaging Het
Pdgfra C A 5: 75,349,973 (GRCm39) N952K probably benign Het
Pla2r1 A G 2: 60,365,328 (GRCm39) S81P probably damaging Het
Rabggtb A T 3: 153,617,568 (GRCm39) D43E possibly damaging Het
Rexo5 T A 7: 119,424,774 (GRCm39) C43* probably null Het
Robo1 T A 16: 72,701,639 (GRCm39) D168E probably damaging Het
Saxo4 A T 19: 10,451,865 (GRCm39) *428R probably null Het
Scimp A G 11: 70,688,865 (GRCm39) M49T unknown Het
Sema3e T A 5: 14,275,579 (GRCm39) V228E probably damaging Het
Sema6d A G 2: 124,498,738 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,428 (GRCm39) D85V possibly damaging Het
Slc24a2 C T 4: 86,909,745 (GRCm39) V658I probably damaging Het
Snd1 T C 6: 28,526,911 (GRCm39) I198T possibly damaging Het
Snx33 C T 9: 56,833,464 (GRCm39) V202M probably damaging Het
Srcap A G 7: 127,121,189 (GRCm39) E174G probably damaging Het
Srgap2 C A 1: 131,220,314 (GRCm39) probably null Het
Stxbp5 A T 10: 9,688,085 (GRCm39) Y405* probably null Het
Thsd4 C T 9: 59,895,320 (GRCm39) R710H probably benign Het
Trp53inp1 T A 4: 11,165,130 (GRCm39) D51E probably benign Het
Ttc41 A G 10: 86,566,882 (GRCm39) D516G probably benign Het
Tut7 A T 13: 59,937,266 (GRCm39) L775H probably damaging Het
Uap1l1 A G 2: 25,252,840 (GRCm39) V400A probably damaging Het
Vit T C 17: 78,932,182 (GRCm39) S430P probably damaging Het
Vmn1r9 T A 6: 57,048,294 (GRCm39) M123K possibly damaging Het
Vmn2r14 A T 5: 109,369,384 (GRCm39) probably null Het
Vwa3a A G 7: 120,390,924 (GRCm39) T746A probably benign Het
Wdfy4 G T 14: 32,710,852 (GRCm39) Y2578* probably null Het
Wdr53 A T 16: 32,075,796 (GRCm39) K334* probably null Het
Xpot G T 10: 121,442,713 (GRCm39) H495Q probably damaging Het
Zfp109 T C 7: 23,928,570 (GRCm39) T288A probably benign Het
Zfp277 T A 12: 40,413,152 (GRCm39) E276V probably damaging Het
Zfp703 A G 8: 27,468,729 (GRCm39) D131G probably benign Het
Zfp985 T A 4: 147,667,801 (GRCm39) I223N probably benign Het
Zrsr2-ps1 T C 11: 22,923,805 (GRCm39) V193A possibly damaging Het
Zscan20 A G 4: 128,481,958 (GRCm39) I568T 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
R4764:Osbpl6 UTSW 2 76,376,344 (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'- TAGTCACCCACTTTGCATAGGTG -3'
(R):5'- TGATGGCGCAGTTTGGAGAC -3'

Sequencing Primer
(F):5'- CACCCACTTTGCATAGGTGAGTTG -3'
(R):5'- TGGAGACCCAAGCGTCAAAC -3'
Posted On 2016-03-17