Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Osbpl2'

655683

Institutional Source

Beutler Lab

Gene Symbol

Osbpl2

Ensembl Gene

ENSMUSG00000039050

Gene Name

oxysterol binding protein-like 2

Synonyms

ORP-2, C130070J12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180119306-180162680 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180155343 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 358 (V358E)

Ref Sequence

ENSEMBL: ENSMUSP00000046538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040668]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040668
AA Change: V358E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: V358E

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	75	474	8.4e-143	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

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, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	Het

Other mutations in Osbpl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Osbpl2	APN	2	180150258	missense	possibly damaging	0.60
IGL00824:Osbpl2	APN	2	180150267	missense	probably benign	0.08
IGL01385:Osbpl2	APN	2	180137080	missense	probably benign	0.10
IGL01449:Osbpl2	APN	2	180145194	splice site	probably benign
R0735:Osbpl2	UTSW	2	180150290	splice site	probably benign
R1315:Osbpl2	UTSW	2	180148602	missense	probably damaging	0.98
R1583:Osbpl2	UTSW	2	180148463	missense	probably damaging	0.99
R2023:Osbpl2	UTSW	2	180150176	splice site	probably null
R2276:Osbpl2	UTSW	2	180148526	missense	possibly damaging	0.96
R3737:Osbpl2	UTSW	2	180161560	missense	probably damaging	1.00
R3739:Osbpl2	UTSW	2	180161560	missense	probably damaging	1.00
R4035:Osbpl2	UTSW	2	180161560	missense	probably damaging	1.00
R6111:Osbpl2	UTSW	2	180150201	missense	probably benign	0.38
R7324:Osbpl2	UTSW	2	180150201	missense	probably benign	0.38
R7400:Osbpl2	UTSW	2	180153321	missense	probably benign
R8379:Osbpl2	UTSW	2	180137102	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGAAAAGGCTGTGGCGCTG -3'
(R):5'- CACAGACCTGAGCAGAGTTG -3'

Sequencing Primer
(F):5'- TGCACAGGGGCTTGGGAG -3'
(R):5'- TAACAGACCTGAGCAGAGTTG -3'

Posted On

2020-10-20