Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Osbpl3'

389723

Institutional Source

Beutler Lab

Gene Symbol

Osbpl3

Ensembl Gene

ENSMUSG00000029822

Gene Name

oxysterol binding protein-like 3

Synonyms

ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50270310-50433181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50313277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 107 (E107G)

Ref Sequence

ENSEMBL: ENSMUSP00000145249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071728] [ENSMUST00000090019] [ENSMUST00000114466] [ENSMUST00000114468] [ENSMUST00000203907]

AlphaFold

Q9DBS9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071728
AA Change: E327G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: E327G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000090019
AA Change: E358G

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: E358G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000114466
AA Change: E358G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: E358G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000114468
AA Change: E327G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: E327G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000203907
AA Change: E107G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822
AA Change: E107G

Domain	Start	End	E-Value	Type
Blast:PH	1	91	1e-57	BLAST
low complexity region	208	241	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Creb3l1	C	T	2: 91,813,571 (GRCm39)	D489N	probably benign	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	Het

Other mutations in Osbpl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Osbpl3	APN	6	50,300,048 (GRCm39)	missense	probably damaging	1.00
IGL01784:Osbpl3	APN	6	50,321,902 (GRCm39)	missense	probably damaging	1.00
IGL02221:Osbpl3	APN	6	50,304,347 (GRCm39)	unclassified	probably benign
IGL02323:Osbpl3	APN	6	50,323,306 (GRCm39)	critical splice donor site	probably null
IGL02894:Osbpl3	APN	6	50,323,312 (GRCm39)	missense	possibly damaging	0.89
H8562:Osbpl3	UTSW	6	50,324,446 (GRCm39)	missense	probably benign	0.09
PIT4283001:Osbpl3	UTSW	6	50,323,068 (GRCm39)	missense	probably benign	0.01
R0226:Osbpl3	UTSW	6	50,329,988 (GRCm39)	missense	probably damaging	1.00
R0416:Osbpl3	UTSW	6	50,324,998 (GRCm39)	missense	probably benign
R0417:Osbpl3	UTSW	6	50,324,998 (GRCm39)	missense	probably benign
R0601:Osbpl3	UTSW	6	50,276,383 (GRCm39)	missense	probably benign	0.05
R0826:Osbpl3	UTSW	6	50,323,357 (GRCm39)	missense	probably damaging	1.00
R1390:Osbpl3	UTSW	6	50,285,407 (GRCm39)	missense	probably damaging	1.00
R1520:Osbpl3	UTSW	6	50,323,411 (GRCm39)	missense	possibly damaging	0.75
R1603:Osbpl3	UTSW	6	50,300,073 (GRCm39)	missense	probably damaging	1.00
R1678:Osbpl3	UTSW	6	50,313,193 (GRCm39)	critical splice donor site	probably null
R1843:Osbpl3	UTSW	6	50,347,123 (GRCm39)	missense	probably damaging	1.00
R1943:Osbpl3	UTSW	6	50,297,054 (GRCm39)	missense	probably benign	0.16
R3435:Osbpl3	UTSW	6	50,325,050 (GRCm39)	missense	possibly damaging	0.94
R3768:Osbpl3	UTSW	6	50,324,982 (GRCm39)	missense	possibly damaging	0.64
R4746:Osbpl3	UTSW	6	50,305,654 (GRCm39)	missense	probably damaging	0.99
R4751:Osbpl3	UTSW	6	50,277,977 (GRCm39)	missense	possibly damaging	0.95
R4776:Osbpl3	UTSW	6	50,277,953 (GRCm39)	missense	probably benign	0.01
R4814:Osbpl3	UTSW	6	50,329,980 (GRCm39)	missense	probably damaging	1.00
R4841:Osbpl3	UTSW	6	50,286,356 (GRCm39)	missense	probably damaging	1.00
R4881:Osbpl3	UTSW	6	50,329,764 (GRCm39)	missense	possibly damaging	0.95
R5512:Osbpl3	UTSW	6	50,286,340 (GRCm39)	missense	probably damaging	0.98
R6282:Osbpl3	UTSW	6	50,325,063 (GRCm39)	splice site	probably null
R6304:Osbpl3	UTSW	6	50,289,654 (GRCm39)	missense	probably damaging	1.00
R6905:Osbpl3	UTSW	6	50,328,862 (GRCm39)	missense	probably damaging	1.00
R7000:Osbpl3	UTSW	6	50,274,137 (GRCm39)	missense	probably damaging	1.00
R7102:Osbpl3	UTSW	6	50,297,115 (GRCm39)	missense	probably damaging	1.00
R7275:Osbpl3	UTSW	6	50,323,410 (GRCm39)	missense	probably benign	0.02
R7334:Osbpl3	UTSW	6	50,321,886 (GRCm39)	missense	possibly damaging	0.78
R7368:Osbpl3	UTSW	6	50,325,078 (GRCm39)	missense	probably damaging	1.00
R8052:Osbpl3	UTSW	6	50,322,995 (GRCm39)	missense	probably damaging	1.00
R8183:Osbpl3	UTSW	6	50,280,089 (GRCm39)	missense	probably benign	0.00
R8810:Osbpl3	UTSW	6	50,328,852 (GRCm39)	missense	probably damaging	1.00
R8932:Osbpl3	UTSW	6	50,304,371 (GRCm39)	missense	probably benign	0.37
R9168:Osbpl3	UTSW	6	50,329,762 (GRCm39)	critical splice donor site	probably null
R9447:Osbpl3	UTSW	6	50,321,857 (GRCm39)	nonsense	probably null
R9476:Osbpl3	UTSW	6	50,313,194 (GRCm39)	critical splice donor site	probably null
R9510:Osbpl3	UTSW	6	50,313,194 (GRCm39)	critical splice donor site	probably null
R9788:Osbpl3	UTSW	6	50,324,344 (GRCm39)	critical splice donor site	probably null
RF011:Osbpl3	UTSW	6	50,325,118 (GRCm39)	critical splice acceptor site	probably benign
Z1088:Osbpl3	UTSW	6	50,274,077 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAATGCAACCATGGAAATGG -3'
(R):5'- AGCCTAAAGGTTTCCATTAGAGGTC -3'

Sequencing Primer
(F):5'- TGGAAATTATTAGTAACTCACAAGCC -3'
(R):5'- AAAGGTTTCCATTAGAGGTCACTCCC -3'

Posted On

2016-06-06