Incidental Mutation 'R5035:Osbpl9'
ID 389492
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 042626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5035 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 108918342-109059469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108923364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 449 (F449L)
Ref Sequence ENSEMBL: ENSMUSP00000125714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000065977] [ENSMUST00000084366] [ENSMUST00000102736] [ENSMUST00000161363] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000162787] [ENSMUST00000194478] [ENSMUST00000159545]
AlphaFold A2A8Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000030288
AA Change: F529L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: F529L

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 damaging
Transcript: ENSMUST00000084366
AA Change: F432L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: F432L

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 noncoding transcript
Transcript: ENSMUST00000126288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139412
Predicted Effect probably damaging
Transcript: ENSMUST00000161363
AA Change: F449L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: F449L

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: ENSMUST00000160271
AA Change: F419L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: F419L

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: F512L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: F512L

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 possibly damaging
Transcript: ENSMUST00000162787
AA Change: F516L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: F516L

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 possibly damaging
Transcript: ENSMUST00000194478
AA Change: F539L

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: F539L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150784
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
Meta Mutation Damage Score 0.6566 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (46/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,810 (GRCm39) I361V probably benign Het
Afp A G 5: 90,655,764 (GRCm39) D583G probably benign Het
Bcas3 C T 11: 85,434,771 (GRCm39) A552V probably damaging Het
Bfsp2 T G 9: 103,357,065 (GRCm39) T121P probably benign Het
Bicra C T 7: 15,713,349 (GRCm39) R951Q possibly damaging Het
Cdc40 G A 10: 40,725,809 (GRCm39) T220I probably benign Het
Cdk5rap3 T C 11: 96,806,911 (GRCm39) probably benign Het
Clcnka A T 4: 141,122,469 (GRCm39) Y179* probably null Het
Creb3l1 T A 2: 91,817,431 (GRCm39) I361F probably benign Het
Csmd3 T C 15: 47,454,175 (GRCm39) Y3557C probably damaging Het
Dab2ip A G 2: 35,599,953 (GRCm39) S190G probably benign Het
Dbx1 T C 7: 49,282,284 (GRCm39) H307R unknown Het
Dock8 C A 19: 25,063,571 (GRCm39) P258T probably damaging Het
Eml6 T C 11: 29,804,187 (GRCm39) I305V probably benign Het
Frem3 T A 8: 81,342,543 (GRCm39) F1612Y probably damaging Het
Fubp1 A G 3: 151,920,488 (GRCm39) T76A probably benign Het
Glmp G C 3: 88,233,951 (GRCm39) probably benign Het
Gm20918 A G Y: 5,045,992 (GRCm39) Q183R probably benign Het
Krt28 T C 11: 99,257,650 (GRCm39) N397S probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map3k13 T C 16: 21,740,421 (GRCm39) Y583H probably benign Het
Mcm3 A T 1: 20,873,642 (GRCm39) probably benign Het
Misp T C 10: 79,663,790 (GRCm39) V588A probably benign Het
Or1j19 A G 2: 36,676,903 (GRCm39) D122G probably damaging Het
Or2z9 T A 8: 72,853,922 (GRCm39) L106H probably damaging Het
Or4c105 A T 2: 88,648,443 (GRCm39) K309N probably benign Het
Or51a43 G A 7: 103,717,614 (GRCm39) T208I possibly damaging Het
Or8g37 G A 9: 39,731,390 (GRCm39) A152T possibly damaging Het
Pkhd1l1 A G 15: 44,431,720 (GRCm39) D3358G probably damaging Het
Prodh2 A T 7: 30,205,904 (GRCm39) S247C possibly damaging Het
Prr23a3 G A 9: 98,747,183 (GRCm39) E46K possibly damaging Het
Ptprz1 A G 6: 23,016,214 (GRCm39) I837V probably benign Het
Rabgap1l A C 1: 160,551,606 (GRCm39) F263V probably damaging Het
Rnf4 A G 5: 34,508,683 (GRCm39) K182E probably damaging Het
Slc24a2 G T 4: 86,929,943 (GRCm39) R469S possibly damaging Het
Speer2 A G 16: 69,654,829 (GRCm39) probably null Het
Tg C A 15: 66,553,662 (GRCm39) probably null Het
Tns1 G A 1: 73,992,979 (GRCm39) probably benign Het
Top2b G T 14: 16,409,966 (GRCm38) A878S probably benign Het
Trgc4 G T 13: 19,536,506 (GRCm39) R188L unknown Het
Ugt3a1 G A 15: 9,361,704 (GRCm39) R160Q probably benign Het
Ush2a G T 1: 188,643,005 (GRCm39) L4122F probably 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
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
R8143:Osbpl9 UTSW 4 108,922,906 (GRCm39) missense probably benign 0.12
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'- ATATAGTTTATACCCCACCCAGTCC -3'
(R):5'- ACGTCTTAAACCTGCGGGAG -3'

Sequencing Primer
(F):5'- CCCCTCCAAATCCCTAAGTCTACATG -3'
(R):5'- TTAAACCTGCGGGAGTTGCC -3'
Posted On 2016-06-06