Incidental Mutation 'R8143:Osbpl9'
ID 632628
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 067571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8143 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108918342-109059469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108922906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 485 (S485P)
Ref Sequence ENSEMBL: ENSMUSP00000081396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000065977] [ENSMUST00000084366] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000159545] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000161363] [ENSMUST00000162787] [ENSMUST00000194478]
AlphaFold A2A8Z1
Predicted Effect probably benign
Transcript: ENSMUST00000030288
AA Change: S582P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: S582P

DomainStartEndE-ValueType
PH 3 101 8.5e-17 SMART
low complexity region 253 274 N/A INTRINSIC
low complexity region 285 301 N/A INTRINSIC
low complexity region 349 362 N/A INTRINSIC
Pfam:Oxysterol_BP 377 729 7.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065977
SMART Domains Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
low complexity region 172 209 N/A INTRINSIC
Pfam:Peptidase_M16 210 348 1.1e-43 PFAM
Pfam:Peptidase_M16_C 373 559 2.3e-22 PFAM
Pfam:Peptidase_M16_C 849 1032 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084366
AA Change: S485P

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: S485P

DomainStartEndE-ValueType
low complexity region 156 177 N/A INTRINSIC
low complexity region 188 204 N/A INTRINSIC
low complexity region 252 265 N/A INTRINSIC
Pfam:Oxysterol_BP 277 634 7.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102736
SMART Domains Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
low complexity region 172 209 N/A INTRINSIC
Pfam:Peptidase_M16 210 348 1.4e-43 PFAM
Pfam:Peptidase_M16_C 400 515 1.1e-9 PFAM
Pfam:Peptidase_M16_C 805 988 2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106644
SMART Domains Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
coiled coil region 187 225 N/A INTRINSIC
Pfam:Peptidase_M16 281 416 1e-41 PFAM
Pfam:Peptidase_M16_C 441 627 2.2e-23 PFAM
Pfam:Peptidase_M16_M 631 913 1e-91 PFAM
Pfam:Peptidase_M16_C 917 1100 6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159545
SMART Domains Protein: ENSMUSP00000123856
Gene: ENSMUSG00000028559

DomainStartEndE-ValueType
Blast:PH 3 54 6e-33 BLAST
SCOP:d1pls__ 4 46 9e-8 SMART
PDB:2KCJ|A 4 55 1e-10 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000160271
AA Change: S472P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: S472P

DomainStartEndE-ValueType
low complexity region 143 164 N/A INTRINSIC
low complexity region 175 191 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
Pfam:Oxysterol_BP 264 621 4.7e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160774
AA Change: S565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: S565P

DomainStartEndE-ValueType
PH 3 84 6.46e-8 SMART
low complexity region 236 257 N/A INTRINSIC
low complexity region 268 284 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
Pfam:Oxysterol_BP 357 714 2.8e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161363
AA Change: S502P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: S502P

DomainStartEndE-ValueType
Blast:PH 13 34 3e-6 BLAST
low complexity region 173 194 N/A INTRINSIC
low complexity region 205 221 N/A INTRINSIC
low complexity region 269 282 N/A INTRINSIC
Pfam:Oxysterol_BP 294 651 2.2e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162787
AA Change: S569P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: S569P

DomainStartEndE-ValueType
PH 3 101 8.5e-17 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 272 288 N/A INTRINSIC
low complexity region 336 349 N/A INTRINSIC
Pfam:Oxysterol_BP 361 718 2.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194478
AA Change: S592P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: S592P

DomainStartEndE-ValueType
PH 3 101 3.7e-19 SMART
low complexity region 263 284 N/A INTRINSIC
low complexity region 295 311 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Oxysterol_BP 384 741 2e-79 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 85.9%
Validation Efficiency 100% (65/65)
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, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C A 2: 35,265,884 (GRCm39) C262F probably damaging Het
Acss1 T C 2: 150,509,801 (GRCm39) probably null Het
Adamtsl1 T C 4: 86,260,492 (GRCm39) V909A possibly damaging Het
Adprh G A 16: 38,270,694 (GRCm39) T37M probably benign Het
Ak9 T A 10: 41,213,588 (GRCm39) Y264* probably null Het
Aox3 G T 1: 58,198,074 (GRCm39) A629S probably benign Het
Apcs G A 1: 172,721,900 (GRCm39) P149S probably damaging Het
Arnt T A 3: 95,377,294 (GRCm39) probably null Het
Asb13 G A 13: 3,692,065 (GRCm39) G15D probably damaging Het
Bltp1 T G 3: 37,000,657 (GRCm39) probably null Het
Cacnb1 T G 11: 97,894,146 (GRCm39) T459P probably benign Het
Chrnb2 T C 3: 89,654,630 (GRCm39) T718A unknown Het
Cttn T A 7: 144,014,999 (GRCm39) K70* probably null Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cyp39a1 T C 17: 44,036,517 (GRCm39) V349A probably benign Het
Ebf2 C A 14: 67,649,386 (GRCm39) Y430* probably null Het
Eef2 T C 10: 81,017,182 (GRCm39) Y730H probably damaging Het
Eif2ak2 G A 17: 79,165,961 (GRCm39) T412I probably benign Het
Flnc G C 6: 29,441,484 (GRCm39) R422P probably benign Het
Fryl G A 5: 73,207,682 (GRCm39) A2496V probably benign Het
Galnt6 A G 15: 100,614,088 (GRCm39) L71P probably damaging Het
Gm7579 C T 7: 141,766,163 (GRCm39) Q190* probably null Het
H2-T3 T A 17: 36,498,384 (GRCm39) R220S probably benign Het
Hmcn1 A G 1: 150,734,957 (GRCm39) V185A probably benign Het
Ifi208 T A 1: 173,510,242 (GRCm39) D132E possibly damaging Het
Itgb4 G A 11: 115,884,255 (GRCm39) V981I probably damaging Het
Itsn2 A G 12: 4,683,003 (GRCm39) T310A unknown Het
Kat5 A G 19: 5,657,577 (GRCm39) probably null Het
Kif22 A T 7: 126,632,397 (GRCm39) D304E probably damaging Het
Mapre3 A T 5: 31,020,719 (GRCm39) N147Y possibly damaging Het
Morc2a T C 11: 3,628,537 (GRCm39) V330A probably benign Het
Mylk G A 16: 34,734,525 (GRCm39) V709M possibly damaging Het
Myo3a T G 2: 22,287,476 (GRCm39) probably null Het
N4bp2l2 A T 5: 150,585,670 (GRCm39) D103E probably benign Het
Nckap1 T C 2: 80,336,530 (GRCm39) K1062R possibly damaging Het
Nol9 T C 4: 152,125,559 (GRCm39) V170A possibly damaging Het
Numa1 A G 7: 101,648,891 (GRCm39) Q874R possibly damaging Het
Olig3 T G 10: 19,232,732 (GRCm39) V119G probably damaging Het
Or7g34 A G 9: 19,478,587 (GRCm39) V31A probably benign Het
Otogl A G 10: 107,642,527 (GRCm39) F1301S probably damaging Het
Pank3 A G 11: 35,667,036 (GRCm39) Y51C probably damaging Het
Pex5l T C 3: 33,136,658 (GRCm39) probably benign Het
Pgm1 G A 4: 99,824,415 (GRCm39) probably null Het
Psmd9 T G 5: 123,366,479 (GRCm39) I37S probably damaging Het
Qtrt2 A G 16: 43,692,117 (GRCm39) S135P probably damaging Het
Rexo5 T A 7: 119,433,484 (GRCm39) probably null Het
Rsrp1 T A 4: 134,654,319 (GRCm39) D286E probably benign Het
Scara3 C T 14: 66,169,269 (GRCm39) C116Y probably damaging Het
Serpina3b A T 12: 104,096,793 (GRCm39) T25S probably benign Het
Sh3pxd2a G A 19: 47,257,138 (GRCm39) P555S probably damaging Het
Slc1a2 T A 2: 102,568,230 (GRCm39) L89Q probably damaging Het
Tgm6 T A 2: 129,983,763 (GRCm39) N307K probably damaging Het
Tmem86b G T 7: 4,631,484 (GRCm39) D189E probably damaging Het
Trim65 G A 11: 116,017,287 (GRCm39) R392C probably benign Het
Trpc7 T C 13: 56,930,362 (GRCm39) T769A probably benign Het
Trrap T A 5: 144,772,707 (GRCm39) probably null Het
Ttn T C 2: 76,693,677 (GRCm39) E397G possibly damaging Het
Vcl A T 14: 21,037,112 (GRCm39) M237L possibly damaging Het
Vmn1r36 G A 6: 66,693,036 (GRCm39) Q280* probably null Het
Vmn2r23 A T 6: 123,718,312 (GRCm39) D555V probably damaging Het
Wnk4 A G 11: 101,153,625 (GRCm39) N229S probably damaging Het
Zfp784 A C 7: 5,038,910 (GRCm39) V216G possibly damaging Het
Other mutations in Osbpl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Osbpl9 APN 4 108,929,207 (GRCm39) missense probably damaging 1.00
IGL00793:Osbpl9 APN 4 108,944,628 (GRCm39) missense probably damaging 0.99
IGL00809:Osbpl9 APN 4 108,990,960 (GRCm39) missense probably damaging 1.00
IGL02071:Osbpl9 APN 4 108,929,176 (GRCm39) missense probably damaging 1.00
IGL02547:Osbpl9 APN 4 108,925,680 (GRCm39) nonsense probably null
IGL02822:Osbpl9 APN 4 108,930,118 (GRCm39) missense probably damaging 1.00
IGL03074:Osbpl9 APN 4 108,929,158 (GRCm39) missense probably damaging 1.00
IGL03193:Osbpl9 APN 4 108,924,163 (GRCm39) missense possibly damaging 0.90
IGL03196:Osbpl9 APN 4 108,930,061 (GRCm39) missense probably damaging 1.00
IGL03306:Osbpl9 APN 4 109,029,529 (GRCm39) splice site probably benign
IGL03323:Osbpl9 APN 4 108,919,656 (GRCm39) splice site probably benign
Oblong UTSW 4 108,948,876 (GRCm39) missense possibly damaging 0.62
R0211:Osbpl9 UTSW 4 108,930,321 (GRCm39) missense probably damaging 1.00
R0368:Osbpl9 UTSW 4 108,924,129 (GRCm39) missense probably damaging 1.00
R0620:Osbpl9 UTSW 4 108,940,325 (GRCm39) missense probably damaging 1.00
R1439:Osbpl9 UTSW 4 108,958,353 (GRCm39) missense probably damaging 1.00
R1711:Osbpl9 UTSW 4 108,923,415 (GRCm39) missense probably damaging 1.00
R1757:Osbpl9 UTSW 4 108,921,780 (GRCm39) missense probably damaging 1.00
R2237:Osbpl9 UTSW 4 109,013,854 (GRCm39) missense probably damaging 1.00
R2295:Osbpl9 UTSW 4 109,059,331 (GRCm39) missense probably damaging 0.99
R2418:Osbpl9 UTSW 4 108,923,415 (GRCm39) missense probably damaging 1.00
R3111:Osbpl9 UTSW 4 108,940,290 (GRCm39) missense probably benign 0.08
R4202:Osbpl9 UTSW 4 109,029,437 (GRCm39) intron probably benign
R4672:Osbpl9 UTSW 4 108,921,806 (GRCm39) missense possibly damaging 0.82
R4706:Osbpl9 UTSW 4 109,013,884 (GRCm39) missense probably damaging 1.00
R4856:Osbpl9 UTSW 4 108,925,564 (GRCm39) missense probably benign 0.38
R4886:Osbpl9 UTSW 4 108,925,564 (GRCm39) missense probably benign 0.38
R5035:Osbpl9 UTSW 4 108,923,364 (GRCm39) missense probably damaging 0.99
R5309:Osbpl9 UTSW 4 108,923,352 (GRCm39) missense probably damaging 1.00
R5400:Osbpl9 UTSW 4 108,919,497 (GRCm39) nonsense probably null
R5719:Osbpl9 UTSW 4 108,919,763 (GRCm39) nonsense probably null
R5810:Osbpl9 UTSW 4 108,943,571 (GRCm39) missense probably benign 0.00
R6237:Osbpl9 UTSW 4 109,013,899 (GRCm39) missense probably damaging 1.00
R6575:Osbpl9 UTSW 4 108,930,129 (GRCm39) missense possibly damaging 0.89
R6648:Osbpl9 UTSW 4 108,948,876 (GRCm39) missense possibly damaging 0.62
R6675:Osbpl9 UTSW 4 108,991,025 (GRCm39) splice site probably null
R7130:Osbpl9 UTSW 4 108,940,296 (GRCm39) missense probably benign
R7356:Osbpl9 UTSW 4 108,925,677 (GRCm39) nonsense probably null
R7615:Osbpl9 UTSW 4 108,943,536 (GRCm39) missense probably damaging 1.00
R7753:Osbpl9 UTSW 4 108,990,970 (GRCm39) missense possibly damaging 0.86
R7772:Osbpl9 UTSW 4 108,923,384 (GRCm39) missense probably damaging 0.99
R7788:Osbpl9 UTSW 4 108,919,691 (GRCm39) missense probably benign 0.41
R8083:Osbpl9 UTSW 4 108,943,572 (GRCm39) missense possibly damaging 0.74
R8323:Osbpl9 UTSW 4 108,965,119 (GRCm39) missense probably benign 0.01
R8331:Osbpl9 UTSW 4 108,923,378 (GRCm39) missense probably damaging 1.00
R8406:Osbpl9 UTSW 4 108,921,770 (GRCm39) missense possibly damaging 0.82
R8531:Osbpl9 UTSW 4 109,013,908 (GRCm39) missense probably damaging 1.00
R8715:Osbpl9 UTSW 4 108,959,773 (GRCm39) missense probably benign 0.21
R8888:Osbpl9 UTSW 4 108,930,333 (GRCm39) missense probably benign 0.03
R8895:Osbpl9 UTSW 4 108,930,333 (GRCm39) missense probably benign 0.03
R9079:Osbpl9 UTSW 4 108,920,644 (GRCm39) missense possibly damaging 0.48
R9379:Osbpl9 UTSW 4 108,940,399 (GRCm39) missense probably damaging 0.99
R9775:Osbpl9 UTSW 4 109,013,747 (GRCm39) intron probably benign
Z1177:Osbpl9 UTSW 4 108,965,077 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCAGGTCTCCTTTTGTCAAG -3'
(R):5'- TTCCCCAATGGCTATGGAAG -3'

Sequencing Primer
(F):5'- GACCCACGCAGTTGATGGTTAG -3'
(R):5'- GGCAAGTAGATGATTTCCCCATCAG -3'
Posted On 2020-06-30