Incidental Mutation 'R4856:Osbpl9'
ID 373943
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 042467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4856 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108918342-109059469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108925564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 485 (N485S)
Ref Sequence ENSEMBL: ENSMUSP00000141991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000084366] [ENSMUST00000159545] [ENSMUST00000160774] [ENSMUST00000161363] [ENSMUST00000160271] [ENSMUST00000162787] [ENSMUST00000194478]
AlphaFold A2A8Z1
Predicted Effect probably benign
Transcript: ENSMUST00000030288
AA Change: N475S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: N475S

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: ENSMUST00000084366
AA Change: N378S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: N378S

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 noncoding transcript
Transcript: ENSMUST00000126288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139412
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
Predicted Effect probably benign
Transcript: ENSMUST00000160774
AA Change: N458S

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: N458S

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: N395S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: N395S

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 benign
Transcript: ENSMUST00000160271
AA Change: N365S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: N365S

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 benign
Transcript: ENSMUST00000162787
AA Change: N462S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: N462S

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 benign
Transcript: ENSMUST00000194478
AA Change: N485S

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: N485S

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 G A 6: 140,589,799 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp2b4 T A 1: 133,634,518 (GRCm39) I1177L probably benign Het
Bub3 A T 7: 131,163,297 (GRCm39) D76V probably damaging Het
Cacna2d4 G A 6: 119,255,217 (GRCm39) R578Q possibly damaging Het
Caprin2 A C 6: 148,774,509 (GRCm39) S268A probably benign Het
Card6 T C 15: 5,134,623 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,319 (GRCm39) S1103P probably benign Het
Cfap221 T C 1: 119,861,934 (GRCm39) T614A probably damaging Het
Cfap221 T A 1: 119,912,488 (GRCm39) Y133F probably damaging Het
Clcc1 A G 3: 108,584,154 (GRCm39) T513A probably benign Het
Clec4g T A 8: 3,766,419 (GRCm39) probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Cpne2 T A 8: 95,290,592 (GRCm39) D392E probably benign Het
Cry1 G T 10: 84,984,634 (GRCm39) P147T probably damaging Het
Cyp4a29 T C 4: 115,110,078 (GRCm39) V440A probably benign Het
Ddx46 A G 13: 55,786,012 (GRCm39) D64G unknown Het
Dhx34 A G 7: 15,949,367 (GRCm39) S354P possibly damaging Het
Ecm2 A T 13: 49,676,263 (GRCm39) I327F possibly damaging Het
Elavl3 T C 9: 21,937,614 (GRCm39) K189E possibly damaging Het
Enam A T 5: 88,636,593 (GRCm39) R82* probably null Het
Erf A G 7: 24,945,636 (GRCm39) V45A probably damaging Het
Fat3 T A 9: 15,932,626 (GRCm39) I1436F probably benign Het
Flnc T C 6: 29,447,889 (GRCm39) Y1231H probably damaging Het
Ggta1 T A 2: 35,292,803 (GRCm39) H180L possibly damaging Het
Grin2c T C 11: 115,151,616 (GRCm39) T115A probably damaging Het
H6pd C T 4: 150,067,235 (GRCm39) V384M possibly damaging Het
Hba-x A G 11: 32,227,008 (GRCm39) E39G probably benign Het
Hnrnpul2 C T 19: 8,807,191 (GRCm39) P618S probably benign Het
Hpse2 C T 19: 42,777,396 (GRCm39) R590H probably damaging Het
Ighv1-54 C A 12: 115,157,423 (GRCm39) G75C probably damaging Het
Ighv8-11 C A 12: 115,530,774 (GRCm39) R118L possibly damaging Het
Iqcm A T 8: 76,615,228 (GRCm39) R436S possibly damaging Het
Islr T C 9: 58,064,889 (GRCm39) D206G probably damaging Het
Itih1 A G 14: 30,658,658 (GRCm39) probably null Het
Jam2 G A 16: 84,598,490 (GRCm39) D34N probably benign Het
Klhl14 A T 18: 21,691,029 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lrrc66 A G 5: 73,765,910 (GRCm39) F378L probably benign Het
Map10 T A 8: 126,397,431 (GRCm39) Y275N probably damaging Het
Mpi T C 9: 57,452,590 (GRCm39) Y314C probably damaging Het
Mpp3 A G 11: 101,915,962 (GRCm39) Y55H probably benign Het
Nectin4 T C 1: 171,212,383 (GRCm39) V327A possibly damaging Het
Nlrp12 T A 7: 3,289,072 (GRCm39) D480V probably damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Notch2 A T 3: 98,009,735 (GRCm39) Y554F probably damaging Het
Nrsn2 T C 2: 152,211,531 (GRCm39) K167E probably benign Het
Olr1 T A 6: 129,470,559 (GRCm39) K203* probably null Het
Or14j8 A T 17: 38,262,962 (GRCm39) S318T probably benign Het
Or2ag13 T A 7: 106,473,177 (GRCm39) I92F probably damaging Het
Or5b117 T C 19: 13,431,885 (GRCm39) probably null Het
Or8b3 A T 9: 38,314,764 (GRCm39) N195I probably damaging Het
Or9i2 T A 19: 13,815,643 (GRCm39) E298V probably damaging Het
Pbk T A 14: 66,052,650 (GRCm39) H164Q probably damaging Het
Pfn2 G T 3: 57,754,874 (GRCm39) N10K probably damaging Het
Pik3ca A G 3: 32,491,312 (GRCm39) D133G probably damaging Het
Pramel27 G T 4: 143,579,873 (GRCm39) R486L probably benign Het
Prl6a1 A T 13: 27,502,983 (GRCm39) D193V probably damaging Het
Rad21 G T 15: 51,831,896 (GRCm39) P395Q probably damaging Het
Reps1 T A 10: 17,999,373 (GRCm39) I720N probably damaging Het
Rpn2 T C 2: 157,159,964 (GRCm39) probably null Het
Rreb1 G A 13: 38,115,034 (GRCm39) V798M possibly damaging Het
Sardh C T 2: 27,134,489 (GRCm39) R9H probably benign Het
Scgb3a2 C T 18: 43,899,819 (GRCm39) P36S probably damaging Het
Scn10a C A 9: 119,523,375 (GRCm39) G6V possibly damaging Het
Scn10a C T 9: 119,523,376 (GRCm39) G6R possibly damaging Het
Scn3a T C 2: 65,291,376 (GRCm39) D1790G probably damaging Het
Sec24b A T 3: 129,777,619 (GRCm39) H1226Q probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc12a3 G A 8: 95,078,438 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tex52 A T 6: 128,361,951 (GRCm39) probably null Het
Tma16 A C 8: 66,934,129 (GRCm39) C75W probably damaging Het
Tmem67 G A 4: 12,089,416 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,236 (GRCm39) V29A probably benign Het
Trmt10a A T 3: 137,854,146 (GRCm39) K75* probably null Het
Ttc3 T C 16: 94,191,142 (GRCm39) V228A probably benign Het
Ttn T C 2: 76,561,644 (GRCm39) D28954G probably damaging Het
Uggt2 A G 14: 119,273,376 (GRCm39) probably null Het
Vars1 T A 17: 35,234,702 (GRCm39) V1177E probably benign Het
Vmn1r59 T C 7: 5,457,532 (GRCm39) D76G possibly damaging Het
Vmn2r114 G T 17: 23,527,008 (GRCm39) A508E probably benign Het
Vps41 G A 13: 19,013,425 (GRCm39) V348M probably damaging Het
Zbtb43 T C 2: 33,343,944 (GRCm39) H427R 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
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'- AATCATGACACCAGAAGGCG -3'
(R):5'- GGAACATCACATTTGTCCTTGTC -3'

Sequencing Primer
(F):5'- CAGCTGGTAAAGTTGTCTGATGCC -3'
(R):5'- CTCTTCCAGCATTAGTGATCAGAAGG -3'
Posted On 2016-03-01