Incidental Mutation 'R2418:Osbpl9'
ID 249059
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 040380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2418 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108918342-109059469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108923415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 495 (C495R)
Ref Sequence ENSEMBL: ENSMUSP00000124742 (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: C512R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: C512R

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: C415R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: C415R

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 noncoding transcript
Transcript: ENSMUST00000150784
Predicted Effect probably damaging
Transcript: ENSMUST00000161363
AA Change: C432R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: C432R

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: C402R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: C402R

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: C495R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: C495R

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: C499R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: C499R

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: C522R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: C522R

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: ENSMUST00000155434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159198
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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, 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acox3 A G 5: 35,761,982 (GRCm39) N442S probably benign Het
Acp5 C A 9: 22,041,248 (GRCm39) V60L probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Btd G A 14: 31,363,093 (GRCm39) probably null Het
Cfap251 A C 5: 123,392,331 (GRCm39) probably benign Het
Cfap74 T A 4: 155,540,166 (GRCm39) probably benign Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Col4a4 G T 1: 82,510,657 (GRCm39) A205E unknown Het
Cwf19l1 T C 19: 44,119,911 (GRCm39) T77A probably benign Het
Cyp2b9 A G 7: 25,886,132 (GRCm39) T100A probably benign Het
Ddx24 A G 12: 103,383,996 (GRCm39) L485P probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dnase1l3 T A 14: 7,968,089 (GRCm38) E272V possibly damaging Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Elk3 T C 10: 93,120,689 (GRCm39) N50S probably damaging Het
Fmo3 A T 1: 162,794,527 (GRCm39) I181K probably benign Het
Golga3 T C 5: 110,349,734 (GRCm39) I655T probably damaging Het
Hspa1l A T 17: 35,196,164 (GRCm39) T68S probably benign Het
Itgax C T 7: 127,741,505 (GRCm39) R839W probably damaging Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Kmt5b C T 19: 3,857,266 (GRCm39) A318V probably benign Het
Krt78 T C 15: 101,855,069 (GRCm39) Y914C probably benign Het
Lactb2 T C 1: 13,730,563 (GRCm39) T38A possibly damaging Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Magi1 T C 6: 93,722,891 (GRCm39) D329G probably damaging Het
Map3k5 T A 10: 19,986,603 (GRCm39) V939E probably benign Het
Mcm8 C T 2: 132,666,658 (GRCm39) A233V probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Mical2 G T 7: 111,919,941 (GRCm39) probably null Het
Nudt13 A G 14: 20,361,581 (GRCm39) E219G probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Or52d3 A T 7: 104,229,141 (GRCm39) H96L probably benign Het
Or6b1 A G 6: 42,814,983 (GRCm39) H56R probably benign Het
Osbpl7 A C 11: 96,950,004 (GRCm39) D395A probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Pcnx4 T A 12: 72,603,037 (GRCm39) F433Y probably damaging Het
Pdp1 G A 4: 11,961,838 (GRCm39) P158S probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Ptbp1 T C 10: 79,695,511 (GRCm39) Y187H probably damaging Het
Resp18 T C 1: 75,248,955 (GRCm39) *176W probably null Het
Rps6ka2 A C 17: 7,566,738 (GRCm39) Q665H possibly damaging Het
Rtn1 T C 12: 72,351,052 (GRCm39) T386A probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Scn1a T C 2: 66,104,187 (GRCm39) N1663S probably damaging Het
Smyd1 A T 6: 71,216,537 (GRCm39) I70N probably damaging Het
Tas2r105 T C 6: 131,664,410 (GRCm39) E6G probably damaging Het
Tchh G T 3: 93,352,936 (GRCm39) R792L unknown Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem184b A G 15: 79,250,143 (GRCm39) Y211H possibly damaging Het
Top3a C A 11: 60,638,842 (GRCm39) G551V possibly damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R 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
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
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'- ACACCCAGCCTGACTTTCAG -3'
(R):5'- TTGGAGGGGCCCATATTGAG -3'

Sequencing Primer
(F):5'- TCCTTGAGTGTCCAGTAC -3'
(R):5'- AGGACACGTCTTAAACCTGCGG -3'
Posted On 2014-11-12