Incidental Mutation 'R7356:Osbpl9'
ID 570949
Institutional Source Beutler Lab
Gene Symbol Osbpl9
Ensembl Gene ENSMUSG00000028559
Gene Name oxysterol binding protein-like 9
Synonyms ORP-9, 2600011I06Rik
MMRRC Submission 045442-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7356 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 108918342-109059469 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 108925677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 340 (Y340*)
Ref Sequence ENSEMBL: ENSMUSP00000081396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000084366] [ENSMUST00000159545] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000161363] [ENSMUST00000162787] [ENSMUST00000194478]
AlphaFold A2A8Z1
Predicted Effect probably null
Transcript: ENSMUST00000030288
AA Change: Y437*
SMART Domains Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: Y437*

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 null
Transcript: ENSMUST00000084366
AA Change: Y340*
SMART Domains Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: Y340*

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: 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 null
Transcript: ENSMUST00000160271
AA Change: Y327*
SMART Domains Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: Y327*

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 null
Transcript: ENSMUST00000160774
AA Change: Y420*
SMART Domains Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: Y420*

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 null
Transcript: ENSMUST00000161363
AA Change: Y357*
SMART Domains Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: Y357*

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 null
Transcript: ENSMUST00000162787
AA Change: Y424*
SMART Domains Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: Y424*

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 null
Transcript: ENSMUST00000194478
AA Change: Y447*
SMART Domains Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: Y447*

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A T 4: 49,383,507 (GRCm39) D15E probably damaging Het
Adamts16 G A 13: 70,984,399 (GRCm39) T88I probably benign Het
Akap6 A C 12: 52,958,647 (GRCm39) N801H probably damaging Het
Ankfn1 G T 11: 89,325,599 (GRCm39) N524K probably damaging Het
Ap5s1 A G 2: 131,054,582 (GRCm39) N131S probably damaging Het
Astn2 A T 4: 66,103,503 (GRCm39) D303E unknown Het
Babam1 T C 8: 71,852,208 (GRCm39) V132A probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTT CACTGGTTCTATGGTGACTGGTT 3: 95,795,495 (GRCm39) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTCCTGTGGTCACTGGT 3: 95,795,487 (GRCm39) probably benign Het
BC028528 GGTCACTGGTTCTGT GGTCACTGGTTCTGTAGTCACTGGTTCTGT 3: 95,795,477 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,795,470 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC 3: 95,795,453 (GRCm39) probably benign Het
Cnst C T 1: 179,434,095 (GRCm39) P304S probably benign Het
Cog4 A T 8: 111,576,498 (GRCm39) probably null Het
Cyp2j13 A T 4: 95,965,655 (GRCm39) H17Q probably benign Het
Dock6 G A 9: 21,721,195 (GRCm39) T1662I probably damaging Het
Dysf T C 6: 84,044,443 (GRCm39) F270S probably damaging Het
Erbb4 A G 1: 68,378,514 (GRCm39) probably null Het
Fam120b A T 17: 15,627,958 (GRCm39) Q550L probably benign Het
Fam83b A T 9: 76,400,135 (GRCm39) F323I probably benign Het
Far1 T A 7: 113,167,349 (GRCm39) I478N possibly damaging Het
Gdpd5 T A 7: 99,108,085 (GRCm39) I554N probably damaging Het
Glrx3 T C 7: 137,054,453 (GRCm39) S79P probably damaging Het
Hltf T C 3: 20,163,534 (GRCm39) I888T probably damaging Het
Hpx A G 7: 105,240,917 (GRCm39) V452A probably damaging Het
Itk T G 11: 46,258,659 (GRCm39) Q81P possibly damaging Het
Kdm6b G A 11: 69,292,991 (GRCm39) Q1262* probably null Het
Lpcat2 T C 8: 93,591,611 (GRCm39) V85A probably benign Het
Lrrk2 A T 15: 91,622,947 (GRCm39) H1039L probably benign Het
Mapk3 T C 7: 126,360,087 (GRCm39) probably null Het
Masp1 A T 16: 23,288,993 (GRCm39) N602K possibly damaging Het
Myo7a T A 7: 97,751,890 (GRCm39) Q40L probably benign Het
Nek1 A T 8: 61,573,994 (GRCm39) M1081L probably benign Het
Nes T C 3: 87,885,058 (GRCm39) S1106P possibly damaging Het
Nkpd1 A T 7: 19,257,699 (GRCm39) I493F probably damaging Het
Npsr1 C G 9: 24,009,557 (GRCm39) S21C probably benign Het
Oog1 G A 12: 87,653,047 (GRCm39) probably null Het
Or11g1 G A 14: 50,651,159 (GRCm39) V53M probably damaging Het
Or5g24-ps1 G A 2: 85,463,782 (GRCm39) R3K probably benign Het
Or5k8 A T 16: 58,644,718 (GRCm39) M118K probably damaging Het
Pcyox1l A T 18: 61,840,621 (GRCm39) L11Q probably null Het
Pdxdc1 G A 16: 13,677,867 (GRCm39) R255C probably damaging Het
Pgap1 A G 1: 54,569,293 (GRCm39) S358P probably benign Het
Pgm2l1 A G 7: 99,917,326 (GRCm39) Y481C possibly damaging Het
Plekhf1 T C 7: 37,921,545 (GRCm39) T8A possibly damaging Het
Plg G T 17: 12,629,798 (GRCm39) G611C probably damaging Het
Prf1 A C 10: 61,139,059 (GRCm39) D339A possibly damaging Het
Prph A G 15: 98,954,807 (GRCm39) Y291C probably damaging Het
Rasal1 A G 5: 120,792,890 (GRCm39) S48G possibly damaging Het
Rigi A G 4: 40,226,600 (GRCm39) S231P probably benign Het
Ripk4 T A 16: 97,544,349 (GRCm39) Q766L probably damaging Het
Scaf1 T C 7: 44,657,208 (GRCm39) D557G unknown Het
Scaper A T 9: 55,799,495 (GRCm39) M190K unknown Het
Scn8a A T 15: 100,855,460 (GRCm39) I202F probably damaging Het
Siglecf A G 7: 43,005,855 (GRCm39) I505V probably benign Het
Sirpb1c A G 3: 15,886,297 (GRCm39) S360P probably benign Het
Sla2 C A 2: 156,720,623 (GRCm39) probably null Het
Slc11a1 G T 1: 74,424,648 (GRCm39) V544L probably benign Het
Slco1a5 T A 6: 142,180,458 (GRCm39) K648I probably benign Het
Sorcs1 T A 19: 50,163,595 (GRCm39) I1020F possibly damaging Het
Spen C A 4: 141,199,235 (GRCm39) E3131* probably null Het
Sult2a7 A T 7: 14,211,031 (GRCm39) W162R probably damaging Het
Sult3a1 G A 10: 33,742,579 (GRCm39) E69K probably benign Het
Tcof1 G T 18: 60,951,166 (GRCm39) D1119E unknown Het
Tom1l2 A T 11: 60,139,853 (GRCm39) I272K probably damaging Het
Tspan5 C T 3: 138,448,193 (GRCm39) probably benign Het
Ttn A G 2: 76,698,244 (GRCm39) L186P Het
Uap1l1 T C 2: 25,251,696 (GRCm39) E496G possibly damaging Het
Ube2v1 A T 2: 167,451,115 (GRCm39) I117N possibly damaging Het
Usp42 A G 5: 143,702,842 (GRCm39) V593A possibly damaging Het
Virma T A 4: 11,513,595 (GRCm39) I483N probably damaging Het
Vwde T A 6: 13,192,641 (GRCm39) I421F probably damaging Het
Zfp345 G A 2: 150,314,209 (GRCm39) H443Y probably damaging Het
Zfp760 A G 17: 21,941,601 (GRCm39) T259A probably benign Het
Zfp941 T C 7: 140,392,028 (GRCm39) I444V possibly damaging Het
Zfyve9 A C 4: 108,576,212 (GRCm39) S290A 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
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
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'- ACTGTCTTCTGACCACACG -3'
(R):5'- GTTGTGCCTTGGTGTCAAAC -3'

Sequencing Primer
(F):5'- TGACCACACGTTTATGGCAC -3'
(R):5'- CTGGAATTGGTATCCAACTGGTATCC -3'
Posted On 2019-09-13