Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Osbpl2'

655683

Institutional Source

Beutler Lab

Gene Symbol

Osbpl2

Ensembl Gene

ENSMUSG00000039050

Gene Name

oxysterol binding protein-like 2

Synonyms

C130070J12Rik, ORP-2

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

179761099-179804473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 179797136 bp (GRCm39)

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]

AlphaFold

Q8BX94

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
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Osbpl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Osbpl2	APN	2	179,792,051 (GRCm39)	missense	possibly damaging	0.60
IGL00824:Osbpl2	APN	2	179,792,060 (GRCm39)	missense	probably benign	0.08
IGL01385:Osbpl2	APN	2	179,778,873 (GRCm39)	missense	probably benign	0.10
IGL01449:Osbpl2	APN	2	179,786,987 (GRCm39)	splice site	probably benign
R0735:Osbpl2	UTSW	2	179,792,083 (GRCm39)	splice site	probably benign
R1315:Osbpl2	UTSW	2	179,790,395 (GRCm39)	missense	probably damaging	0.98
R1583:Osbpl2	UTSW	2	179,790,256 (GRCm39)	missense	probably damaging	0.99
R2023:Osbpl2	UTSW	2	179,791,969 (GRCm39)	splice site	probably null
R2276:Osbpl2	UTSW	2	179,790,319 (GRCm39)	missense	possibly damaging	0.96
R3737:Osbpl2	UTSW	2	179,803,353 (GRCm39)	missense	probably damaging	1.00
R3739:Osbpl2	UTSW	2	179,803,353 (GRCm39)	missense	probably damaging	1.00
R4035:Osbpl2	UTSW	2	179,803,353 (GRCm39)	missense	probably damaging	1.00
R6111:Osbpl2	UTSW	2	179,791,994 (GRCm39)	missense	probably benign	0.38
R7324:Osbpl2	UTSW	2	179,791,994 (GRCm39)	missense	probably benign	0.38
R7400:Osbpl2	UTSW	2	179,795,114 (GRCm39)	missense	probably benign
R8379:Osbpl2	UTSW	2	179,778,895 (GRCm39)	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