Incidental Mutation 'R9157:Osbpl6'
ID 695416
Institutional Source Beutler Lab
Gene Symbol Osbpl6
Ensembl Gene ENSMUSG00000042359
Gene Name oxysterol binding protein-like 6
Synonyms 1110062M20Rik, ORP-6
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R9157 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 76236852-76430991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76382468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 222 (P222S)
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: P222S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: P222S

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: P222S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: P222S

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: P222S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: P222S

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: P109S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: P109S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,207,220 (GRCm39) T324A probably benign Het
Adam9 A T 8: 25,493,331 (GRCm39) F92L probably damaging Het
Adgrb1 A G 15: 74,411,624 (GRCm39) T376A probably damaging Het
Aff3 A C 1: 38,249,559 (GRCm39) I516S probably benign Het
Bdp1 C T 13: 100,186,436 (GRCm39) S1672N probably benign Het
Btc A T 5: 91,513,980 (GRCm39) I94N probably damaging Het
Ccdc168 A G 1: 44,096,520 (GRCm39) V1526A probably benign Het
Ccdc47 A T 11: 106,093,208 (GRCm39) probably null Het
Ceacam5 A T 7: 17,493,419 (GRCm39) Y814F possibly damaging Het
Celsr3 A T 9: 108,707,185 (GRCm39) R1223W probably damaging Het
Cenpc1 A G 5: 86,166,316 (GRCm39) M779T probably benign Het
Cfap20dc T A 14: 8,518,635 (GRCm38) T274S probably benign Het
Depdc5 T C 5: 33,102,452 (GRCm39) I986T probably damaging Het
Dhx40 A T 11: 86,662,050 (GRCm39) I669N probably damaging Het
Dnah1 T A 14: 30,987,970 (GRCm39) I3483F probably damaging Het
Dzip3 C T 16: 48,748,124 (GRCm39) G918D probably benign Het
Fam185a T G 5: 21,660,837 (GRCm39) V284G probably damaging Het
Fhod3 T C 18: 25,218,651 (GRCm39) S805P probably damaging Het
Filip1l A G 16: 57,391,980 (GRCm39) N856S probably benign Het
Gm12887 C T 4: 121,473,701 (GRCm39) V50M probably benign Het
Gm45785 T C 7: 140,398,616 (GRCm39) I94V unknown Het
Gm9195 A G 14: 72,692,038 (GRCm39) I1616T unknown Het
Grm4 T A 17: 27,653,956 (GRCm39) I665F probably benign Het
Hcls1 C T 16: 36,777,000 (GRCm39) A230V probably benign Het
Hic1 A G 11: 75,057,053 (GRCm39) L612P possibly damaging Het
Hmcn1 A C 1: 150,522,343 (GRCm39) V3519G probably benign Het
Hmgcs1 A G 13: 120,165,963 (GRCm39) Y360C probably benign Het
Hspa12a A T 19: 58,789,292 (GRCm39) M448K possibly damaging Het
Htt T G 5: 34,987,171 (GRCm39) I1130S probably null Het
Irx3 A G 8: 92,527,694 (GRCm39) Y59H probably damaging Het
Klc4 A G 17: 46,950,361 (GRCm39) L280P probably damaging Het
Lrp1 G T 10: 127,410,209 (GRCm39) N1512K probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Marco T C 1: 120,421,814 (GRCm39) E130G probably damaging Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Ms4a18 A T 19: 10,988,804 (GRCm39) L184Q probably damaging Het
Msi2 A C 11: 88,608,889 (GRCm39) S10A probably benign Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Ngfr AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 95,478,316 (GRCm39) probably benign Het
Nradd A G 9: 110,451,188 (GRCm39) L60P probably damaging Het
Nup188 A G 2: 30,188,456 (GRCm39) Y39C probably benign Het
Odf2 G T 2: 29,816,815 (GRCm39) G754C probably benign Het
Or10a2 A T 7: 106,673,214 (GRCm39) M60L probably damaging Het
Or12d15 A G 17: 37,694,183 (GRCm39) M242V probably benign Het
Or13d1 A G 4: 52,971,419 (GRCm39) Y266C possibly damaging Het
Or4b1 A G 2: 89,979,522 (GRCm39) I276T possibly damaging Het
Pcdhga3 T C 18: 37,809,229 (GRCm39) Y561H probably benign Het
Phykpl G A 11: 51,490,375 (GRCm39) V419I probably benign Het
Pskh1 A G 8: 106,640,142 (GRCm39) Y274C possibly damaging Het
Rap1gap G T 4: 137,444,742 (GRCm39) V219F probably damaging Het
Rapgef4 C A 2: 72,005,212 (GRCm39) H220N probably benign Het
Rcor3 G T 1: 191,810,181 (GRCm39) H165Q possibly damaging Het
Reg3d T C 6: 78,354,422 (GRCm39) T60A possibly damaging Het
Rgs9 T A 11: 109,116,549 (GRCm39) D644V probably damaging Het
Rhob T A 12: 8,549,319 (GRCm39) H105L probably benign Het
Rph3a T C 5: 121,101,892 (GRCm39) K115E probably damaging Het
Rsf1 GG GGGGACGGCCG 7: 97,229,113 (GRCm39) probably benign Het
Scn4b T A 9: 45,058,013 (GRCm39) V35E probably damaging Het
Serpina3i T C 12: 104,231,672 (GRCm39) I103T probably damaging Het
Sidt2 T C 9: 45,852,658 (GRCm39) T776A possibly damaging Het
Slc15a1 T C 14: 121,702,389 (GRCm39) I586V probably benign Het
Slc15a5 A T 6: 137,961,456 (GRCm39) V213E Het
Stard13 C A 5: 151,157,152 (GRCm39) A10S probably benign Het
Taf6 C A 5: 138,179,221 (GRCm39) V406F possibly damaging Het
Tap2 G T 17: 34,431,004 (GRCm39) R368L possibly damaging Het
Tmem236 T C 2: 14,223,889 (GRCm39) V226A probably benign Het
Tmem87a T A 2: 120,210,093 (GRCm39) I287F possibly damaging Het
Ttll13 A T 7: 79,904,428 (GRCm39) K351I possibly damaging Het
Ttn T A 2: 76,581,245 (GRCm39) Y23216F probably damaging Het
Vmn2r27 T C 6: 124,201,244 (GRCm39) T238A probably benign Het
Vmn2r54 T C 7: 12,366,055 (GRCm39) Y293C possibly damaging Het
Vsig10l T C 7: 43,112,948 (GRCm39) S69P Het
Wdr83 G A 8: 85,806,432 (GRCm39) T122I probably damaging Het
Zfp219 A G 14: 52,246,200 (GRCm39) V309A probably damaging Het
Zfp354a C T 11: 50,960,788 (GRCm39) S332F probably damaging Het
Zfp354b T C 11: 50,813,887 (GRCm39) N346S 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
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
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'- TAATTTCAGGACTGGGTTCCTG -3'
(R):5'- TAAGAAGAAAGGCCCGGTCC -3'

Sequencing Primer
(F):5'- TTCCTGGGCTCCTGGGTAC -3'
(R):5'- GAAGCTGTAGTGTTTTCCTTGCACC -3'
Posted On 2022-01-20