Incidental Mutation 'R4672:Osbpl9'
ID 348509
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 041927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4672 (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 108921806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 604 (I604T)
Ref Sequence ENSEMBL: ENSMUSP00000124742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000065977] [ENSMUST00000084366] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000161363] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000162787] [ENSMUST00000194478] [ENSMUST00000159545]
AlphaFold A2A8Z1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030288
AA Change: I621T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: I621T

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: I524T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: I524T

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: ENSMUST00000125063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126288
Predicted Effect possibly damaging
Transcript: ENSMUST00000161363
AA Change: I541T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: I541T

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 possibly damaging
Transcript: ENSMUST00000160271
AA Change: I511T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: I511T

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 possibly damaging
Transcript: ENSMUST00000160774
AA Change: I604T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: I604T

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: I608T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: I608T

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: I631T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: I631T

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: ENSMUST00000139412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150796
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 0.1140 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (113/115)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,962,702 (GRCm39) L483F possibly damaging Het
Abca8b A G 11: 109,827,274 (GRCm39) F1507L possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alppl2 T C 1: 87,017,187 (GRCm39) probably benign Het
Aplnr A G 2: 84,967,524 (GRCm39) Y183C probably damaging Het
Atm G A 9: 53,433,501 (GRCm39) R250W probably damaging Het
B4galt7 T C 13: 55,757,132 (GRCm39) L275P probably damaging Het
Bltp1 A G 3: 36,944,139 (GRCm39) *330W probably null Het
Ccdc178 G A 18: 22,283,501 (GRCm39) Q10* probably null Het
Ccr9 T C 9: 123,608,752 (GRCm39) Y145H probably damaging Het
Cd209f C T 8: 4,153,685 (GRCm39) G188D probably damaging Het
Cep70 T A 9: 99,136,365 (GRCm39) S23T possibly damaging Het
Cpped1 C A 16: 11,623,238 (GRCm39) E294* probably null Het
Crisp1 T A 17: 40,605,404 (GRCm39) probably null Het
Disp1 T C 1: 182,880,215 (GRCm39) probably null Het
Dlg2 A T 7: 91,935,743 (GRCm39) M624L probably damaging Het
Elf2 A G 3: 51,163,855 (GRCm39) V558A probably damaging Het
Eno2 T C 6: 124,743,109 (GRCm39) D209G probably damaging Het
Fam187b G A 7: 30,676,968 (GRCm39) R159H probably damaging Het
Fh1 G A 1: 175,431,617 (GRCm39) A423V probably benign Het
Frg1 C T 8: 41,853,846 (GRCm39) D164N probably benign Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gcn1 A G 5: 115,744,579 (GRCm39) T1592A probably damaging Het
Gimap3 A G 6: 48,742,687 (GRCm39) I81T probably damaging Het
Gjb6 C T 14: 57,362,235 (GRCm39) V9I probably benign Het
Gkap1 T C 13: 58,411,770 (GRCm39) S68G possibly damaging Het
Gpatch8 A T 11: 102,369,784 (GRCm39) S1251R probably damaging Het
Gria4 A G 9: 4,664,981 (GRCm39) F92L possibly damaging Het
H2-Q1 C A 17: 35,539,906 (GRCm39) D58E probably damaging Het
Hs1bp3 G T 12: 8,391,983 (GRCm39) G362* probably null Het
Igfn1 T A 1: 135,893,107 (GRCm39) H2114L possibly damaging Het
Igkv12-98 A G 6: 68,547,940 (GRCm39) Q22R probably benign Het
Ing3 A G 6: 21,965,729 (GRCm39) probably null Het
Insr C T 8: 3,217,501 (GRCm39) probably null Het
Kdm3b T C 18: 34,941,630 (GRCm39) S374P probably benign Het
Kif14 A C 1: 136,449,016 (GRCm39) Q1472P probably benign Het
Kif14 G T 1: 136,449,017 (GRCm39) Q1472H probably benign Het
Knstrn A G 2: 118,664,512 (GRCm39) E202G probably damaging Het
Knstrn G T 2: 118,664,513 (GRCm39) E202D possibly damaging Het
Krt12 A G 11: 99,309,509 (GRCm39) probably benign Het
Lgi3 A T 14: 70,771,897 (GRCm39) I195F possibly damaging Het
Lima1 T C 15: 99,741,590 (GRCm39) N29D probably damaging Het
Liph T C 16: 21,802,806 (GRCm39) I88V probably benign Het
Lrrk1 A G 7: 65,929,120 (GRCm39) S86P probably benign Het
Lsamp A G 16: 41,775,697 (GRCm39) R166G probably damaging Het
Mamdc2 T A 19: 23,328,148 (GRCm39) N407Y probably damaging Het
Mast3 CATA CA 8: 71,237,441 (GRCm39) probably null Het
Megf6 T A 4: 154,333,909 (GRCm39) N212K probably damaging Het
Met A C 6: 17,571,803 (GRCm39) D1374A probably benign Het
Mrc2 A G 11: 105,233,923 (GRCm39) T902A probably benign Het
Mroh3 T A 1: 136,118,713 (GRCm39) T535S probably benign Het
Muc1 G T 3: 89,139,384 (GRCm39) V595L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myorg T A 4: 41,499,061 (GRCm39) M190L probably benign Het
Ncl A T 1: 86,284,324 (GRCm39) D257E probably benign Het
Nipbl T A 15: 8,332,468 (GRCm39) D2263V probably damaging Het
Optc C A 1: 133,825,555 (GRCm39) V324L possibly damaging Het
Or4k15 A G 14: 50,364,714 (GRCm39) N227D probably benign Het
Or4k42 A T 2: 111,319,902 (GRCm39) N200K possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Otog C A 7: 45,939,210 (GRCm39) A2080D probably damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phactr4 G T 4: 132,098,017 (GRCm39) P417Q probably damaging Het
Pigt T C 2: 164,339,498 (GRCm39) probably benign Het
Plekha5 A G 6: 140,470,655 (GRCm39) I99V probably damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Ppp2r1b G A 9: 50,779,019 (GRCm39) M362I probably damaging Het
Pramel34 T A 5: 93,784,182 (GRCm39) R230S probably damaging Het
Rad51 A G 2: 118,954,327 (GRCm39) I136V probably benign Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rasal2 A G 1: 157,071,231 (GRCm39) F41S probably benign Het
Reep3 T A 10: 66,857,629 (GRCm39) H154L probably benign Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Rps6ka5 C A 12: 100,620,546 (GRCm39) K125N possibly damaging Het
Rsad1 A T 11: 94,434,444 (GRCm39) M330K probably damaging Het
Scand1 A G 2: 156,153,850 (GRCm39) probably null Het
Setd6 A G 8: 96,444,640 (GRCm39) H111R probably null Het
Slc27a3 T C 3: 90,294,953 (GRCm39) N368S possibly damaging Het
Slc38a2 T C 15: 96,596,518 (GRCm39) T32A probably benign Het
Smg7 A G 1: 152,721,164 (GRCm39) S683P probably damaging Het
Smyd2 A T 1: 189,642,101 (GRCm39) L62M probably damaging Het
Sox5 T C 6: 143,779,075 (GRCm39) Y687C probably damaging Het
Spaca6 T A 17: 18,057,005 (GRCm39) C53* probably null Het
Spata31e4 T C 13: 50,857,208 (GRCm39) Y949H probably benign Het
Spire2 T C 8: 124,084,850 (GRCm39) V230A probably benign Het
Sptbn2 G T 19: 4,782,524 (GRCm39) V487L probably benign Het
Stk3 T A 15: 35,099,603 (GRCm39) I110L probably benign Het
Stox2 T A 8: 47,645,141 (GRCm39) Y773F probably damaging Het
Tbrg1 C A 9: 37,562,632 (GRCm39) A259S probably damaging Het
Tnfsf18 C A 1: 161,331,307 (GRCm39) D152E probably benign Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Trrap T C 5: 144,722,290 (GRCm39) L271P probably damaging Het
Ttn G T 2: 76,657,419 (GRCm39) probably benign Het
U2surp A G 9: 95,375,198 (GRCm39) S192P possibly damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Ucma G A 2: 4,981,465 (GRCm39) probably null Het
Urb1 A T 16: 90,569,522 (GRCm39) D1401E probably benign Het
Usp54 A T 14: 20,631,597 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,056 (GRCm39) Y270H probably damaging Het
Vmn1r90 T A 7: 14,295,493 (GRCm39) T202S probably benign Het
Vmn2r88 A G 14: 51,655,612 (GRCm39) Y616C probably damaging Het
Vmn2r95 T A 17: 18,672,413 (GRCm39) W717R probably damaging Het
Zcchc4 C A 5: 52,953,947 (GRCm39) T209K probably benign Het
Zfp955b T A 17: 33,524,233 (GRCm39) probably benign 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
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'- AAAGGCCATTTTGTTAGCTGTACTG -3'
(R):5'- AGATCCTCTGGAGATCCCTG -3'

Sequencing Primer
(F):5'- TAGCTGTACTGTAGGAGAGTGAG -3'
(R):5'- AGATCCCTGTCCTGAGTGAG -3'
Posted On 2015-10-08