Incidental Mutation 'IGL02023:Osbpl10'
ID 184037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbpl10
Ensembl Gene ENSMUSG00000040875
Gene Name oxysterol binding protein-like 10
Synonyms OPR-10, C820004B04Rik, 4933433D06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02023
Quality Score
Status
Chromosome 9
Chromosomal Location 114807637-115061293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115055790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 654 (V654D)
Ref Sequence ENSEMBL: ENSMUSP00000138287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046627] [ENSMUST00000182199] [ENSMUST00000182384] [ENSMUST00000183104]
AlphaFold S4R1M9
Predicted Effect probably damaging
Transcript: ENSMUST00000046627
AA Change: V479D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: V479D

DomainStartEndE-ValueType
low complexity region 95 116 N/A INTRINSIC
Pfam:Oxysterol_BP 229 535 7.8e-70 PFAM
Pfam:Oxysterol_BP 532 589 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182199
SMART Domains Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875

DomainStartEndE-ValueType
Blast:PH 1 36 8e-19 BLAST
PDB:2D9X|A 1 42 2e-8 PDB
SCOP:d1ki1b2 10 42 7e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182384
AA Change: V515D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: V515D

DomainStartEndE-ValueType
Blast:PH 1 36 8e-16 BLAST
PDB:2D9X|A 2 46 6e-7 PDB
SCOP:d1ki1b2 10 42 9e-3 SMART
low complexity region 131 152 N/A INTRINSIC
Pfam:Oxysterol_BP 262 626 1.5e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183104
AA Change: V654D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: V654D

DomainStartEndE-ValueType
low complexity region 4 75 N/A INTRINSIC
PH 77 175 2.72e-15 SMART
low complexity region 270 291 N/A INTRINSIC
Pfam:Oxysterol_BP 401 765 1.4e-72 PFAM
Coding Region Coverage
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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,953,942 (GRCm39) K833E probably benign Het
Adam29 T C 8: 56,325,519 (GRCm39) I312V probably benign Het
Adcy8 T A 15: 64,694,069 (GRCm39) I403F probably damaging Het
Ahcyl1 A T 3: 107,575,010 (GRCm39) N444K probably damaging Het
Ang4 T C 14: 52,001,511 (GRCm39) probably benign Het
Atf6b T C 17: 34,870,841 (GRCm39) V401A possibly damaging Het
Atp7a A T X: 105,138,588 (GRCm39) I604F probably damaging Het
Cd151 T C 7: 141,050,370 (GRCm39) Y202H probably damaging Het
Cd99l2 A T X: 70,493,552 (GRCm39) N64K possibly damaging Het
Cog7 C T 7: 121,543,000 (GRCm39) probably null Het
Decr2 A T 17: 26,306,354 (GRCm39) M94K probably benign Het
Dock11 A T X: 35,232,422 (GRCm39) H188L probably benign Het
Dscam T C 16: 96,602,397 (GRCm39) S682G probably benign Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Gja3 G T 14: 57,273,136 (GRCm39) P412Q probably damaging Het
Glrb T C 3: 80,758,262 (GRCm39) N333D probably benign Het
Gpr65 T A 12: 98,242,127 (GRCm39) V260D probably benign Het
Hormad1 A G 3: 95,485,604 (GRCm39) E264G possibly damaging Het
Hsph1 T C 5: 149,557,324 (GRCm39) R46G probably damaging Het
Hycc2 G A 1: 58,569,274 (GRCm39) A435V possibly damaging Het
Iars1 A G 13: 49,841,725 (GRCm39) Y71C probably damaging Het
Lsg1 T C 16: 30,404,494 (GRCm39) H35R probably damaging Het
Mfge8 C T 7: 78,794,985 (GRCm39) probably benign Het
Mgat4c T A 10: 102,214,045 (GRCm39) Y9* probably null Het
Mpdz A T 4: 81,247,766 (GRCm39) I1074N probably damaging Het
Muc19 T C 15: 91,772,453 (GRCm39) noncoding transcript Het
Nbea A T 3: 55,588,437 (GRCm39) M2434K probably damaging Het
Ncoa2 A G 1: 13,245,078 (GRCm39) L540P probably damaging Het
Nhsl2 A G X: 101,121,858 (GRCm39) R554G probably damaging Het
Npdc1 T A 2: 25,298,032 (GRCm39) probably benign Het
Or2aj6 A T 16: 19,443,158 (GRCm39) S231T probably benign Het
Plxna1 C A 6: 89,334,314 (GRCm39) G105V possibly damaging Het
Pnma8b T C 7: 16,679,616 (GRCm39) V200A probably damaging Het
Ppard A G 17: 28,517,871 (GRCm39) H313R probably benign Het
Rasgrp4 T C 7: 28,838,335 (GRCm39) L103P probably damaging Het
Rigi A G 4: 40,216,487 (GRCm39) Y504H possibly damaging Het
Ripk4 A T 16: 97,556,431 (GRCm39) L104Q probably damaging Het
Setd2 T C 9: 110,423,704 (GRCm39) V2253A probably benign Het
Setdb2 A G 14: 59,668,607 (GRCm39) S43P probably damaging Het
Stab2 C A 10: 86,707,695 (GRCm39) G1742V possibly damaging Het
Timm23 A G 14: 31,915,804 (GRCm39) probably benign Het
Ttn T C 2: 76,615,999 (GRCm39) N14902S possibly damaging Het
Ush2a A G 1: 188,465,711 (GRCm39) T2760A probably benign Het
Vmn2r25 T C 6: 123,816,388 (GRCm39) N398D probably damaging Het
Other mutations in Osbpl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Osbpl10 APN 9 115,005,070 (GRCm39) missense probably benign 0.01
IGL01318:Osbpl10 APN 9 115,061,190 (GRCm39) nonsense probably null
IGL02096:Osbpl10 APN 9 115,046,062 (GRCm39) missense possibly damaging 0.94
Weeblo UTSW 9 115,036,688 (GRCm39) missense probably damaging 1.00
R0534:Osbpl10 UTSW 9 114,996,246 (GRCm39) missense probably damaging 1.00
R0948:Osbpl10 UTSW 9 114,996,187 (GRCm39) missense probably damaging 1.00
R1073:Osbpl10 UTSW 9 115,036,621 (GRCm39) nonsense probably null
R2138:Osbpl10 UTSW 9 115,061,202 (GRCm39) missense probably benign 0.06
R3709:Osbpl10 UTSW 9 115,036,655 (GRCm39) missense probably benign 0.11
R3710:Osbpl10 UTSW 9 115,036,655 (GRCm39) missense probably benign 0.11
R4406:Osbpl10 UTSW 9 114,938,549 (GRCm39) missense probably damaging 0.96
R4738:Osbpl10 UTSW 9 115,045,642 (GRCm39) missense probably damaging 1.00
R4778:Osbpl10 UTSW 9 114,938,598 (GRCm39) missense probably damaging 1.00
R4779:Osbpl10 UTSW 9 114,938,598 (GRCm39) missense probably damaging 1.00
R5828:Osbpl10 UTSW 9 114,890,944 (GRCm39) missense probably damaging 0.97
R5874:Osbpl10 UTSW 9 115,055,828 (GRCm39) missense probably damaging 1.00
R6052:Osbpl10 UTSW 9 114,896,383 (GRCm39) splice site probably null
R6103:Osbpl10 UTSW 9 114,890,940 (GRCm39) nonsense probably null
R6174:Osbpl10 UTSW 9 114,938,555 (GRCm39) missense probably benign 0.00
R6246:Osbpl10 UTSW 9 115,055,842 (GRCm39) missense probably benign 0.34
R7008:Osbpl10 UTSW 9 114,890,916 (GRCm39) missense probably damaging 1.00
R7027:Osbpl10 UTSW 9 115,052,766 (GRCm39) missense probably damaging 0.97
R7182:Osbpl10 UTSW 9 114,896,319 (GRCm39) missense probably damaging 1.00
R7285:Osbpl10 UTSW 9 115,052,771 (GRCm39) missense probably damaging 1.00
R7556:Osbpl10 UTSW 9 115,036,692 (GRCm39) missense probably damaging 1.00
R7810:Osbpl10 UTSW 9 114,890,962 (GRCm39) missense probably benign 0.01
R7853:Osbpl10 UTSW 9 115,036,726 (GRCm39) missense probably damaging 1.00
R7905:Osbpl10 UTSW 9 114,891,078 (GRCm39) critical splice donor site probably null
R8100:Osbpl10 UTSW 9 114,996,322 (GRCm39) missense probably benign
R8376:Osbpl10 UTSW 9 115,052,661 (GRCm39) missense probably damaging 1.00
R8515:Osbpl10 UTSW 9 115,005,136 (GRCm39) missense probably benign 0.00
R8537:Osbpl10 UTSW 9 115,058,977 (GRCm39) missense probably benign 0.13
R8706:Osbpl10 UTSW 9 115,036,688 (GRCm39) missense probably damaging 1.00
R9021:Osbpl10 UTSW 9 114,807,939 (GRCm39) missense unknown
R9022:Osbpl10 UTSW 9 114,807,939 (GRCm39) missense unknown
R9071:Osbpl10 UTSW 9 114,890,908 (GRCm39) missense probably benign 0.00
R9192:Osbpl10 UTSW 9 114,996,294 (GRCm39) missense probably damaging 1.00
R9198:Osbpl10 UTSW 9 115,061,211 (GRCm39) nonsense probably null
R9729:Osbpl10 UTSW 9 115,052,804 (GRCm39) missense probably damaging 0.97
R9771:Osbpl10 UTSW 9 114,896,356 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07