Incidental Mutation 'R7853:Osbpl10'
ID 607077
Institutional Source Beutler Lab
Gene Symbol Osbpl10
Ensembl Gene ENSMUSG00000040875
Gene Name oxysterol binding protein-like 10
Synonyms OPR-10, C820004B04Rik, 4933433D06Rik
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 114807637-115061293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115036726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 241 (T241A)
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: T241A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: T241A

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: T277A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: T277A

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: T416A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: T416A

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: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGCTGGTGACTTTGAATG -3'
(R):5'- GGAGTTCATATGTGCATATGCC -3'

Sequencing Primer
(F):5'- GATTTTATTTCAGCCAGACTCAGG -3'
(R):5'- CATATGTGCATATGCCTCTGTG -3'
Posted On 2019-12-20