Incidental Mutation 'IGL02323:Osbpl3'
ID288367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbpl3
Ensembl Gene ENSMUSG00000029822
Gene Nameoxysterol binding protein-like 3
Synonyms6720421I08Rik, OSBP3, ORP3, 1200014M06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02323
Quality Score
Status
Chromosome6
Chromosomal Location50293330-50456201 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 50346326 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071728] [ENSMUST00000090019] [ENSMUST00000114466] [ENSMUST00000114468] [ENSMUST00000146341] [ENSMUST00000203907]
Predicted Effect probably null
Transcript: ENSMUST00000071728
SMART Domains Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
PH 51 147 9.56e-11 SMART
low complexity region 177 191 N/A INTRINSIC
Blast:PH 254 311 4e-25 BLAST
low complexity region 392 425 N/A INTRINSIC
Pfam:Oxysterol_BP 459 804 3.2e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000090019
SMART Domains Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
PH 51 147 9.56e-11 SMART
low complexity region 177 191 N/A INTRINSIC
Blast:PH 288 342 4e-25 BLAST
low complexity region 459 492 N/A INTRINSIC
Pfam:Oxysterol_BP 526 870 3e-136 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114466
SMART Domains Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
PH 51 147 9.56e-11 SMART
low complexity region 177 191 N/A INTRINSIC
Blast:PH 288 342 3e-25 BLAST
low complexity region 423 456 N/A INTRINSIC
Pfam:Oxysterol_BP 490 835 3.5e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114468
SMART Domains Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
PH 51 147 9.56e-11 SMART
low complexity region 177 191 N/A INTRINSIC
Blast:PH 254 311 4e-25 BLAST
low complexity region 428 461 N/A INTRINSIC
Pfam:Oxysterol_BP 495 840 1.3e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133141
Predicted Effect probably benign
Transcript: ENSMUST00000146341
SMART Domains Protein: ENSMUSP00000114472
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
PH 51 144 1.27e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203907
SMART Domains Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822

DomainStartEndE-ValueType
Blast:PH 1 91 1e-57 BLAST
low complexity region 208 241 N/A INTRINSIC
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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,291,064 E344G probably damaging Het
Actrt2 T C 4: 154,666,798 T294A probably benign Het
Afg1l C A 10: 42,454,510 E54* probably null Het
Ahi1 T C 10: 20,972,034 I447T probably damaging Het
Akap6 T C 12: 53,140,429 I1542T probably benign Het
Ankrd34c A C 9: 89,729,980 S103A possibly damaging Het
Apc C T 18: 34,315,810 Q1886* probably null Het
Bcas3 A G 11: 85,495,845 T148A probably damaging Het
Bud13 A G 9: 46,283,052 T8A probably benign Het
Casr A T 16: 36,509,710 Y421N probably damaging Het
Cd163l1 G T 7: 140,228,659 A828S probably benign Het
Clasp2 T C 9: 113,868,726 probably benign Het
Clca4b T C 3: 144,913,321 T686A probably benign Het
Cntln T A 4: 85,049,789 H748Q probably benign Het
D430042O09Rik T A 7: 125,842,829 S637T probably benign Het
Dmtf1 A T 5: 9,120,056 D683E possibly damaging Het
Dnmt3l A G 10: 78,063,318 K117R probably damaging Het
Eif2a T C 3: 58,548,603 M341T possibly damaging Het
Epg5 T A 18: 78,012,832 Y1740* probably null Het
Fam149b C T 14: 20,363,301 T157I possibly damaging Het
Fam89b A G 19: 5,728,871 probably null Het
Fbxo3 T A 2: 104,047,951 N232K probably benign Het
Gm5415 A T 1: 32,545,704 L375* probably null Het
Gm6588 A G 5: 112,449,734 Y49C probably benign Het
Gnl3 A C 14: 31,017,402 H16Q probably damaging Het
Gpld1 T G 13: 24,982,774 V669G probably damaging Het
Grik3 A G 4: 125,685,990 probably benign Het
Gzmg A C 14: 56,157,272 Y180D probably benign Het
H2-M9 A T 17: 36,640,741 Y281N probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mrs2 T A 13: 25,004,957 I125F probably damaging Het
Nfam1 T A 15: 83,022,951 N15I probably benign Het
Nol8 T A 13: 49,655,245 probably benign Het
Obscn A G 11: 59,008,522 V6483A possibly damaging Het
Olfr444 A T 6: 42,955,983 I162F probably benign Het
Pla2g16 G A 19: 7,574,992 W24* probably null Het
Ppfibp2 A T 7: 107,738,629 Q652H probably damaging Het
Rbm47 A G 5: 66,026,429 V277A probably damaging Het
Robo3 G A 9: 37,422,201 A716V probably benign Het
Slc29a4 A G 5: 142,717,652 E227G probably damaging Het
Slf1 T C 13: 77,051,294 D656G possibly damaging Het
Sox1 A G 8: 12,396,692 H111R possibly damaging Het
Svep1 G A 4: 58,070,236 Q2517* probably null Het
Syndig1 G T 2: 149,899,787 V98L probably benign Het
Synpo2 T C 3: 123,117,534 E154G probably benign Het
Tex37 A G 6: 70,913,695 probably benign Het
Tkt G A 14: 30,571,035 G490S possibly damaging Het
Tmem200a T C 10: 25,993,430 N314D probably benign Het
Tnfaip8l1 A T 17: 56,172,009 T100S probably damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trim12c C T 7: 104,348,266 A28T probably benign Het
Trpc7 C A 13: 56,783,751 V595L possibly damaging Het
Ttc39c A G 18: 12,736,743 R575G probably null Het
Ttn T G 2: 76,851,575 probably benign Het
Ttn C T 2: 76,723,265 V31003M probably damaging Het
Ugt2b37 A T 5: 87,250,564 probably benign Het
Uqcrb A T 13: 66,902,810 probably benign Het
Usp33 T A 3: 152,370,387 W415R probably benign Het
Vmn2r110 A T 17: 20,596,137 D41E probably damaging Het
Vmn2r98 A T 17: 19,065,851 I204F probably damaging Het
Other mutations in Osbpl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Osbpl3 APN 6 50323068 missense probably damaging 1.00
IGL01784:Osbpl3 APN 6 50344922 missense probably damaging 1.00
IGL02221:Osbpl3 APN 6 50327367 unclassified probably benign
IGL02894:Osbpl3 APN 6 50346332 missense possibly damaging 0.89
H8562:Osbpl3 UTSW 6 50347466 missense probably benign 0.09
PIT4283001:Osbpl3 UTSW 6 50346088 missense probably benign 0.01
R0226:Osbpl3 UTSW 6 50353008 missense probably damaging 1.00
R0416:Osbpl3 UTSW 6 50348018 missense probably benign
R0417:Osbpl3 UTSW 6 50348018 missense probably benign
R0601:Osbpl3 UTSW 6 50299403 missense probably benign 0.05
R0826:Osbpl3 UTSW 6 50346377 missense probably damaging 1.00
R1390:Osbpl3 UTSW 6 50308427 missense probably damaging 1.00
R1520:Osbpl3 UTSW 6 50346431 missense possibly damaging 0.75
R1603:Osbpl3 UTSW 6 50323093 missense probably damaging 1.00
R1678:Osbpl3 UTSW 6 50336213 critical splice donor site probably null
R1843:Osbpl3 UTSW 6 50370143 missense probably damaging 1.00
R1943:Osbpl3 UTSW 6 50320074 missense probably benign 0.16
R3435:Osbpl3 UTSW 6 50348070 missense possibly damaging 0.94
R3768:Osbpl3 UTSW 6 50348002 missense possibly damaging 0.64
R4746:Osbpl3 UTSW 6 50328674 missense probably damaging 0.99
R4751:Osbpl3 UTSW 6 50300997 missense possibly damaging 0.95
R4776:Osbpl3 UTSW 6 50300973 missense probably benign 0.01
R4814:Osbpl3 UTSW 6 50353000 missense probably damaging 1.00
R4841:Osbpl3 UTSW 6 50309376 missense probably damaging 1.00
R4881:Osbpl3 UTSW 6 50352784 missense possibly damaging 0.95
R4999:Osbpl3 UTSW 6 50336297 missense probably damaging 0.99
R5512:Osbpl3 UTSW 6 50309360 missense probably damaging 0.98
R6282:Osbpl3 UTSW 6 50348083 unclassified probably null
R6304:Osbpl3 UTSW 6 50312674 missense probably damaging 1.00
R6905:Osbpl3 UTSW 6 50351882 missense probably damaging 1.00
R7000:Osbpl3 UTSW 6 50297157 missense probably damaging 1.00
R7102:Osbpl3 UTSW 6 50320135 missense probably damaging 1.00
R7275:Osbpl3 UTSW 6 50346430 missense probably benign 0.02
R7334:Osbpl3 UTSW 6 50344906 missense possibly damaging 0.78
R7368:Osbpl3 UTSW 6 50348098 missense probably damaging 1.00
Z1088:Osbpl3 UTSW 6 50297097 missense probably damaging 0.98
Posted On2015-04-16