Incidental Mutation 'R5309:Osbpl9'
ID 404703
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 042892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5309 (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 108923352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 520 (S520P)
Ref Sequence ENSEMBL: ENSMUSP00000124370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000065977] [ENSMUST00000084366] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000161363] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000162787] [ENSMUST00000194478] [ENSMUST00000159545]
AlphaFold A2A8Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000030288
AA Change: S533P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: S533P

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: S436P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: S436P

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 noncoding transcript
Transcript: ENSMUST00000126288
Predicted Effect probably damaging
Transcript: ENSMUST00000161363
AA Change: S453P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: S453P

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: S423P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: S423P

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: S516P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: S516P

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 damaging
Transcript: ENSMUST00000162787
AA Change: S520P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: S520P

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: S543P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: S543P

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: ENSMUST00000150784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139412
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 0.8179 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (68/69)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,540 (GRCm39) Q72R unknown Het
Abca15 T C 7: 119,944,592 (GRCm39) V409A probably damaging Het
Abcg3 A C 5: 105,084,465 (GRCm39) C577G possibly damaging Het
Adamtsl5 A T 10: 80,180,982 (GRCm39) probably benign Het
Adgrg3 G A 8: 95,766,492 (GRCm39) V388I probably benign Het
Ank2 T C 3: 126,753,417 (GRCm39) Q288R probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdh3 A G 8: 107,265,652 (GRCm39) T232A probably damaging Het
Cfap210 T C 2: 69,617,602 (GRCm39) T60A possibly damaging Het
Cntnap5c A T 17: 58,666,249 (GRCm39) E1093V probably benign Het
Cplx3 A T 9: 57,518,360 (GRCm39) L343Q probably damaging Het
Cwh43 A G 5: 73,574,110 (GRCm39) H258R probably benign Het
Cyp2j6 T A 4: 96,423,793 (GRCm39) I192F probably damaging Het
Dnaaf5 T A 5: 139,138,617 (GRCm39) V266E probably damaging Het
Egfr G A 11: 16,861,703 (GRCm39) G1161S probably benign Het
Ehmt1 A G 2: 24,774,207 (GRCm39) V201A probably damaging Het
Exoc7 C A 11: 116,195,853 (GRCm39) E28* probably null Het
Fam118a C T 15: 84,934,956 (GRCm39) T195M probably damaging Het
Fancg A G 4: 43,003,019 (GRCm39) F613L probably benign Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gnal G A 18: 67,346,178 (GRCm39) R219K possibly damaging Het
Helz2 T A 2: 180,876,639 (GRCm39) E1285V probably benign Het
Ighv1-74 A G 12: 115,766,501 (GRCm39) S39P probably damaging Het
Ipo11 T C 13: 106,970,481 (GRCm39) probably benign Het
Klc1 A G 12: 111,762,055 (GRCm39) K575R possibly damaging Het
Larp1 T C 11: 57,941,634 (GRCm39) V689A possibly damaging Het
Mki67 A T 7: 135,302,559 (GRCm39) V825E probably damaging Het
Mmp9 T A 2: 164,792,715 (GRCm39) probably benign Het
Myog A G 1: 134,218,064 (GRCm39) K91E probably damaging Het
Nfil3 A T 13: 53,121,656 (GRCm39) V416E probably damaging Het
Nup160 G T 2: 90,563,176 (GRCm39) E1314* probably null Het
Or4g17 T C 2: 111,210,179 (GRCm39) V278A possibly damaging Het
Or4k35 T G 2: 111,100,655 (GRCm39) D19A probably benign Het
Or6c66b A C 10: 129,377,134 (GRCm39) M243L probably benign Het
Or6c75 T A 10: 129,337,383 (GRCm39) V210E probably damaging Het
Osbpl8 T A 10: 111,106,418 (GRCm39) V275E probably benign Het
Ppp4r4 T A 12: 103,573,147 (GRCm39) probably null Het
Proz T C 8: 13,111,049 (GRCm39) L7P probably damaging Het
Ptpn13 G A 5: 103,688,919 (GRCm39) S904N probably damaging Het
Rap1gds1 A G 3: 138,664,389 (GRCm39) L322P probably damaging Het
Rnf5 A G 17: 34,820,562 (GRCm39) F175S probably benign Het
Sema4a G A 3: 88,344,343 (GRCm39) S636F probably damaging Het
Sfrp2 A G 3: 83,676,708 (GRCm39) D193G probably damaging Het
Shoc2 T C 19: 53,976,164 (GRCm39) V18A probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc10a6 A T 5: 103,756,958 (GRCm39) C269S probably damaging Het
Slc34a2 A G 5: 53,226,830 (GRCm39) E651G probably damaging Het
Snx13 C T 12: 35,194,324 (GRCm39) Q956* probably null Het
Spg21 A G 9: 65,376,084 (GRCm39) I31V probably benign Het
Srpk2 T C 5: 23,730,716 (GRCm39) K268E probably damaging Het
Supt16 T C 14: 52,400,155 (GRCm39) E996G probably damaging Het
Syf2 A G 4: 134,663,380 (GRCm39) D184G probably benign Het
Tmem45a2 T C 16: 56,859,370 (GRCm39) D287G possibly damaging Het
Utrn A T 10: 12,603,513 (GRCm39) D627E probably damaging Het
Vmn1r170 T A 7: 23,305,880 (GRCm39) I94N probably damaging Het
Vmn2r103 A T 17: 20,013,296 (GRCm39) N139I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Vps35l T C 7: 118,412,799 (GRCm39) I629T probably damaging Het
Zfp949 A C 9: 88,449,236 (GRCm39) T14P 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
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'- CATCGTACTCCAGACACGAG -3'
(R):5'- ACACACCTGACATGATTTGAGG -3'

Sequencing Primer
(F):5'- GACACGAGACACAGCCTGG -3'
(R):5'- ACCTGACATGATTTGAGGCTCTTTTC -3'
Posted On 2016-07-22