Incidental Mutation 'R9729:Osbpl10'
ID 731235
Institutional Source Beutler Lab
Gene Symbol Osbpl10
Ensembl Gene ENSMUSG00000040875
Gene Name oxysterol binding protein-like 10
Synonyms OPR-10, C820004B04Rik, 4933433D06Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 114807637-115061293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115052804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 451 (V451M)
Ref Sequence ENSEMBL: ENSMUSP00000038013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046627] [ENSMUST00000182199] [ENSMUST00000182384] [ENSMUST00000183104]
AlphaFold S4R1M9
Predicted Effect probably damaging
Transcript: ENSMUST00000046627
AA Change: V451M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: V451M

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: V487M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: V487M

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: V626M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: V626M

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,519 (GRCm39) M273K probably benign Het
Aar2 A G 2: 156,393,361 (GRCm39) D250G probably benign Het
Acly T A 11: 100,407,711 (GRCm39) Y213F probably benign Het
Adgrg5 G A 8: 95,668,133 (GRCm39) M399I Het
Adhfe1 T C 1: 9,623,634 (GRCm39) L95P probably damaging Het
Ano7 G A 1: 93,322,180 (GRCm39) C396Y probably damaging Het
Apob T A 12: 8,066,125 (GRCm39) Y4365N probably damaging Het
Arfgap3 C T 15: 83,192,366 (GRCm39) R411H probably damaging Het
Bbs7 T C 3: 36,661,818 (GRCm39) Y127C probably damaging Het
Cadps2 T C 6: 23,382,982 (GRCm39) T793A probably benign Het
Casp8ap2 T A 4: 32,643,807 (GRCm39) V960E possibly damaging Het
Cd200l1 G T 16: 45,264,237 (GRCm39) T107N possibly damaging Het
Cdkl3 A G 11: 51,895,770 (GRCm39) T6A probably benign Het
Cdkn2aip T C 8: 48,166,654 (GRCm39) D51G probably benign Het
Cdpf1 G T 15: 85,692,527 (GRCm39) S52* probably null Het
Celf5 T A 10: 81,303,925 (GRCm39) D177V probably damaging Het
Cep164 A G 9: 45,682,897 (GRCm39) V931A probably damaging Het
Cog6 T C 3: 52,900,907 (GRCm39) D457G probably damaging Het
Col4a2 G T 8: 11,496,157 (GRCm39) V1593L probably benign Het
Dlg5 C G 14: 24,204,681 (GRCm39) M1287I probably benign Het
Dmrt1 T C 19: 25,523,362 (GRCm39) S238P probably benign Het
Dpysl2 A G 14: 67,099,927 (GRCm39) M103T probably benign Het
Emsy C A 7: 98,262,256 (GRCm39) A608S probably benign Het
Entr1 A G 2: 26,278,645 (GRCm39) F21S unknown Het
Entrep2 C T 7: 64,806,056 (GRCm39) G6S probably benign Het
Exoc5 A T 14: 49,253,086 (GRCm39) C576S probably damaging Het
F830016B08Rik G A 18: 60,433,558 (GRCm39) V214M possibly damaging Het
Fignl1 A G 11: 11,752,219 (GRCm39) S279P probably benign Het
Gimap1 A G 6: 48,719,386 (GRCm39) R71G unknown Het
Gm26727 A T 2: 67,263,263 (GRCm39) M88K probably damaging Het
Gm45861 T A 8: 28,045,436 (GRCm39) W1066R unknown Het
Gpr15 A G 16: 58,538,249 (GRCm39) L280S possibly damaging Het
Grin1 C T 2: 25,187,422 (GRCm39) W629* probably null Het
Grk5 C T 19: 61,078,467 (GRCm39) P508L possibly damaging Het
Hgf A T 5: 16,766,029 (GRCm39) D55V probably damaging Het
Hipk1 T A 3: 103,668,890 (GRCm39) D502V probably damaging Het
Kmt2c T C 5: 25,489,758 (GRCm39) K4394E probably damaging Het
Llgl2 A G 11: 115,740,467 (GRCm39) T388A probably damaging Het
Lsm14a G T 7: 34,088,898 (GRCm39) S2R probably damaging Het
Madd A T 2: 91,000,544 (GRCm39) M507K possibly damaging Het
Map2k3 G T 11: 60,837,472 (GRCm39) V191L Het
Mapk8ip1 A G 2: 92,217,060 (GRCm39) S421P probably damaging Het
Marchf7 C T 2: 60,064,785 (GRCm39) R354* probably null Het
Myc T G 15: 61,859,935 (GRCm39) C204G probably damaging Het
Nampt A G 12: 32,900,528 (GRCm39) H491R possibly damaging Het
Noct C T 3: 51,157,267 (GRCm39) Q202* probably null Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or10b1 T A 10: 78,355,949 (GRCm39) F169Y probably damaging Het
Osr2 T A 15: 35,303,061 (GRCm39) F312Y probably benign Het
Parp16 A T 9: 65,137,097 (GRCm39) I108F possibly damaging Het
Parp4 A G 14: 56,885,888 (GRCm39) T1656A unknown Het
Pnpla8 A G 12: 44,330,657 (GRCm39) I374V probably benign Het
Prss23 T C 7: 89,159,931 (GRCm39) N46S probably benign Het
Ptger2 T C 14: 45,226,476 (GRCm39) W19R possibly damaging Het
Rbl2 T C 8: 91,805,527 (GRCm39) S195P probably damaging Het
Rnf169 C T 7: 99,575,477 (GRCm39) V373I probably damaging Het
Sclt1 C A 3: 41,629,837 (GRCm39) E325* probably null Het
Sergef C T 7: 46,284,913 (GRCm39) S43N probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc3a2 T C 19: 8,685,370 (GRCm39) D472G probably damaging Het
Slc43a3 T C 2: 84,780,800 (GRCm39) F342L probably benign Het
Slc44a4 A T 17: 35,140,670 (GRCm39) I288F probably benign Het
Snupn T A 9: 56,877,915 (GRCm39) N151K possibly damaging Het
Srbd1 A T 17: 86,437,550 (GRCm39) D264E probably benign Het
Srpra A T 9: 35,125,569 (GRCm39) T378S probably benign Het
Stat4 A G 1: 52,141,762 (GRCm39) D613G possibly damaging Het
Sycp2l C T 13: 41,326,132 (GRCm39) P246L Het
Tcf20 T C 15: 82,736,037 (GRCm39) R1805G probably benign Het
Tob1 T A 11: 94,104,880 (GRCm39) F139I probably damaging Het
Traj9 A G 14: 54,446,871 (GRCm39) T8A unknown Het
Trank1 G T 9: 111,220,537 (GRCm39) D2425Y probably damaging Het
Ttn G A 2: 76,738,071 (GRCm39) S4202L unknown Het
Ttn A T 2: 76,577,267 (GRCm39) M24542K probably damaging Het
Vcam1 T C 3: 115,911,105 (GRCm39) Y431C probably damaging Het
Vcpkmt G A 12: 69,627,936 (GRCm39) R175C probably damaging Het
Vmn2r51 A T 7: 9,839,479 (GRCm39) D36E probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp831 T C 2: 174,487,938 (GRCm39) L871P possibly 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
IGL02023:Osbpl10 APN 9 115,055,790 (GRCm39) missense probably damaging 1.00
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
R9771:Osbpl10 UTSW 9 114,896,356 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CACTCATGCTCTGCCCGA -3'
(R):5'- GGCAAACACTATGCAGCCCC -3'

Sequencing Primer
(F):5'- GACTCTCCCTCTCTCCTGGAGG -3'
(R):5'- TGTTTGAGACAAGACCCCATGTC -3'
Posted On 2022-10-06