Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Osbpl3'

367921

Institutional Source

Beutler Lab

Gene Symbol

Osbpl3

Ensembl Gene

ENSMUSG00000029822

Gene Name

oxysterol binding protein-like 3

Synonyms

ORP3, 1200014M06Rik, 6720421I08Rik, OSBP3

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50270310-50433181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50277953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 767 (S767A)

Ref Sequence

ENSEMBL: ENSMUSP00000110112 (fasta)

Gene Model

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

AlphaFold

Q9DBS9

Predicted Effect

probably benign
Transcript: ENSMUST00000071728
AA Change: S731A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: S731A

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: S798A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: S798A

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

probably benign
Transcript: ENSMUST00000114466
AA Change: S762A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: S762A

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

probably benign
Transcript: ENSMUST00000114468
AA Change: S767A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: S767A

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

noncoding transcript
Transcript: ENSMUST00000141466

Meta Mutation Damage Score

0.1702

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,293,346 (GRCm39)	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,421,644 (GRCm39)	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,884,739 (GRCm39)	I373T	probably benign	Het
Amotl1	G	A	9: 14,504,669 (GRCm39)	Q217*	probably null	Het
Ankrd28	A	T	14: 31,454,011 (GRCm39)	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,550,970 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,529,995 (GRCm39)	S245T	probably benign	Het
Atp1b2	A	T	11: 69,492,387 (GRCm39)	D224E	probably damaging	Het
Bmal1	A	T	7: 112,884,244 (GRCm39)	K94I	probably damaging	Het
Boc	G	A	16: 44,308,084 (GRCm39)	R924W	probably damaging	Het
Btbd8	C	A	5: 107,658,317 (GRCm39)	A1117E	probably damaging	Het
Car14	C	T	3: 95,806,185 (GRCm39)	G292D	probably benign	Het
Cenpb	T	C	2: 131,020,103 (GRCm39)		probably benign	Het
Ces1b	A	T	8: 93,789,658 (GRCm39)	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,808,556 (GRCm39)	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 99,655,748 (GRCm39)		probably benign	Het
Cic	T	G	7: 24,982,308 (GRCm39)	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,336,685 (GRCm39)	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452 (GRCm39)	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,658,705 (GRCm39)	D1779V	probably damaging	Het
Dock9	G	T	14: 121,847,509 (GRCm39)	H1016N	possibly damaging	Het
Dxo	T	C	17: 35,057,974 (GRCm39)	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,318,983 (GRCm39)	F78I	probably damaging	Het
Eri2	A	G	7: 119,384,169 (GRCm39)		probably benign	Het
Fbxw7	T	G	3: 84,832,996 (GRCm39)	L13V	possibly damaging	Het
Fgf7	T	A	2: 125,877,703 (GRCm39)	C23*	probably null	Het
Fubp1	T	A	3: 151,927,705 (GRCm39)		probably null	Het
Gm2663	A	T	6: 40,972,887 (GRCm39)	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,366,846 (GRCm39)	Q140*	probably null	Het
Gnptab	G	A	10: 88,272,390 (GRCm39)	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,472,302 (GRCm39)	W544*	probably null	Het
Gucy2c	C	T	6: 136,699,512 (GRCm39)	E586K	probably damaging	Het
Hc	T	A	2: 34,929,746 (GRCm39)	E232V	probably benign	Het
Ifi207	T	A	1: 173,557,622 (GRCm39)	D372V	unknown	Het
Igkv8-28	A	T	6: 70,121,102 (GRCm39)	V15E	probably benign	Het
Il1rap	A	G	16: 26,511,549 (GRCm39)	S198G	possibly damaging	Het
Lct	A	G	1: 128,228,124 (GRCm39)	I1123T	probably damaging	Het
Lhcgr	T	C	17: 89,050,125 (GRCm39)	E467G	probably damaging	Het
Macf1	C	T	4: 123,369,808 (GRCm39)	R86K	probably benign	Het
Maml3	T	A	3: 51,763,953 (GRCm39)	Q337L	probably benign	Het
Marchf10	T	A	11: 105,280,863 (GRCm39)	D474V	probably benign	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mast1	A	G	8: 85,663,822 (GRCm39)		probably null	Het
Med12l	T	C	3: 59,140,633 (GRCm39)	I868T	probably damaging	Het
Msrb1	T	C	17: 24,959,147 (GRCm39)	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,069,125 (GRCm39)	L342P	probably benign	Het
Nrxn3	T	A	12: 90,298,730 (GRCm39)	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,842,029 (GRCm39)	D248V	probably damaging	Het
Oaz3	T	C	3: 94,342,305 (GRCm39)	Q117R	probably benign	Het
Or2a56	A	G	6: 42,932,455 (GRCm39)	I8V	probably benign	Het
Or4f58	A	G	2: 111,851,276 (GRCm39)	Y308H	probably benign	Het
Or52e2	A	G	7: 102,804,621 (GRCm39)	L111P	probably benign	Het
Pafah1b1	A	T	11: 74,576,697 (GRCm39)		probably benign	Het
Pard6b	A	G	2: 167,940,708 (GRCm39)	T232A	probably damaging	Het
Paxip1	A	T	5: 27,970,204 (GRCm39)	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,573,818 (GRCm39)	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932 (GRCm38)		probably benign	Het
Relch	T	A	1: 105,647,260 (GRCm39)	Y683*	probably null	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sel1l	T	A	12: 91,780,667 (GRCm39)	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,990,313 (GRCm39)	L105Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,171,501 (GRCm39)	K227E	probably benign	Het
Slc25a34	A	T	4: 141,350,899 (GRCm39)	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,232,918 (GRCm39)	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,075,808 (GRCm39)	D731V	probably null	Het
Sox6	T	G	7: 115,140,905 (GRCm39)	K483N	probably damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,628,256 (GRCm39)	D882E	probably benign	Het
Syne4	T	C	7: 30,016,258 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,620,391 (GRCm39)	F2170S	probably damaging	Het
Tec	T	C	5: 72,926,119 (GRCm39)	Y289C	probably benign	Het
Tmem102	A	T	11: 69,695,628 (GRCm39)	Y115N	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav17	T	A	14: 54,044,097 (GRCm39)	M1K	probably null	Het
Trdn	T	A	10: 33,275,078 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,477,747 (GRCm39)	I8F	probably benign	Het
Ttn	T	A	2: 76,585,006 (GRCm39)	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,837,836 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,936,813 (GRCm39)		probably null	Het
Upp1	T	C	11: 9,085,976 (GRCm39)	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,296,082 (GRCm39)	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,817,770 (GRCm39)	G449D	probably damaging	Het
Vps37b	T	C	5: 124,144,675 (GRCm39)	K165E	probably damaging	Het
Vwf	A	T	6: 125,543,268 (GRCm39)	I185F	possibly damaging	Het
Wasf2	A	G	4: 132,912,315 (GRCm39)	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,793,952 (GRCm39)	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,981,623 (GRCm39)	S57P	probably benign	Het
Zxdc	A	G	6: 90,347,500 (GRCm39)	H287R	probably damaging	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
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
R4999:Osbpl3	UTSW	6	50,313,277 (GRCm39)	missense	probably damaging	0.99
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'- CTTGTGTTTCTGATGACAGTACCC -3'
(R):5'- GGTAGCCGCTTGTTAGTCAG -3'

Sequencing Primer
(F):5'- GTTTCTGATGACAGTACCCACCTCAG -3'
(R):5'- TTTAGAGTTAGAGATGAAACACAGC -3'

Posted On

2015-12-29