Incidental Mutation 'R4035:Osbpl2'
ID 313652
Institutional Source Beutler Lab
Gene Symbol Osbpl2
Ensembl Gene ENSMUSG00000039050
Gene Name oxysterol binding protein-like 2
Synonyms C130070J12Rik, ORP-2
MMRRC Submission 041613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R4035 (G1)
Quality Score 208
Status Validated
Chromosome 2
Chromosomal Location 179761099-179804473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 179803353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 475 (R475H)
Ref Sequence ENSEMBL: ENSMUSP00000046538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040668]
AlphaFold Q8BX94
Predicted Effect probably damaging
Transcript: ENSMUST00000040668
AA Change: R475H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: R475H

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 75 474 8.4e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142376
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (51/51)
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 the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,879 (GRCm39) F34L probably benign Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ano5 A G 7: 51,216,233 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Bhlhe41 A G 6: 145,808,754 (GRCm39) S353P probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cep350 T C 1: 155,835,541 (GRCm39) T52A probably benign Het
Coro2b A G 9: 62,333,071 (GRCm39) probably benign Het
Ctcf A T 8: 106,390,789 (GRCm39) E132V possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Cxcl2 A T 5: 91,052,272 (GRCm39) Q87L possibly damaging Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Etfdh C T 3: 79,521,018 (GRCm39) V294I probably benign Het
Fnip2 C T 3: 79,386,808 (GRCm39) V973I probably benign Het
Fyco1 T C 9: 123,630,348 (GRCm39) T1286A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gsdme A T 6: 50,206,428 (GRCm39) N138K possibly damaging Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Henmt1 T C 3: 108,866,001 (GRCm39) V199A probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Krba1 A G 6: 48,388,614 (GRCm39) N538D probably damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ndst4 C T 3: 125,232,385 (GRCm39) T318M probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 GCA GCACCA 19: 46,069,797 (GRCm39) probably benign Het
Or6d12 A G 6: 116,493,590 (GRCm39) N284S possibly damaging Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Ppfibp1 A G 6: 146,898,334 (GRCm39) K97E probably damaging Het
Pramel26 T A 4: 143,537,026 (GRCm39) D435V probably benign Het
Prpsap1 A T 11: 116,363,834 (GRCm39) M263K probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rttn T C 18: 89,013,777 (GRCm39) V482A probably benign Het
Samsn1 A G 16: 75,706,073 (GRCm39) M1T probably null Het
Scel A G 14: 103,767,440 (GRCm39) N33S probably damaging Het
Sema4g A T 19: 44,989,853 (GRCm39) Y644F probably damaging Het
Slc39a10 G A 1: 46,851,234 (GRCm39) T752M probably damaging Het
Snx27 T C 3: 94,431,551 (GRCm39) D281G probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,199 (GRCm39) probably null Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ttn T G 2: 76,740,165 (GRCm39) Q3458P probably benign Het
Ube2z A G 11: 95,951,893 (GRCm39) F152L probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp267 T G 3: 36,218,989 (GRCm39) H337Q possibly damaging Het
Other mutations in Osbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Osbpl2 APN 2 179,792,051 (GRCm39) missense possibly damaging 0.60
IGL00824:Osbpl2 APN 2 179,792,060 (GRCm39) missense probably benign 0.08
IGL01385:Osbpl2 APN 2 179,778,873 (GRCm39) missense probably benign 0.10
IGL01449:Osbpl2 APN 2 179,786,987 (GRCm39) splice site probably benign
R0735:Osbpl2 UTSW 2 179,792,083 (GRCm39) splice site probably benign
R1315:Osbpl2 UTSW 2 179,790,395 (GRCm39) missense probably damaging 0.98
R1583:Osbpl2 UTSW 2 179,790,256 (GRCm39) missense probably damaging 0.99
R2023:Osbpl2 UTSW 2 179,791,969 (GRCm39) splice site probably null
R2276:Osbpl2 UTSW 2 179,790,319 (GRCm39) missense possibly damaging 0.96
R3737:Osbpl2 UTSW 2 179,803,353 (GRCm39) missense probably damaging 1.00
R3739:Osbpl2 UTSW 2 179,803,353 (GRCm39) missense probably damaging 1.00
R6111:Osbpl2 UTSW 2 179,791,994 (GRCm39) missense probably benign 0.38
R7324:Osbpl2 UTSW 2 179,791,994 (GRCm39) missense probably benign 0.38
R7400:Osbpl2 UTSW 2 179,795,114 (GRCm39) missense probably benign
R8379:Osbpl2 UTSW 2 179,778,895 (GRCm39) missense probably damaging 1.00
R8508:Osbpl2 UTSW 2 179,797,136 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TAAGTGTGTGAGTGAGCACG -3'
(R):5'- AACATAGTGACGCACTGGGC -3'

Sequencing Primer
(F):5'- AAAGCTAGCCGGCCAGTTACTG -3'
(R):5'- TAGTGACGCACTGGGCAATCTG -3'
Posted On 2015-04-30