Mutagenetix > Incidental Mutation

Incidental Mutation 'R2276:Osbpl2'

242783

Institutional Source

Beutler Lab

Gene Symbol

Osbpl2

Ensembl Gene

ENSMUSG00000039050

Gene Name

oxysterol binding protein-like 2

Synonyms

C130070J12Rik, ORP-2

MMRRC Submission

040275-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R2276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179761099-179804473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179790319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 198 (G198S)

Ref Sequence

ENSEMBL: ENSMUSP00000046538 (fasta)

Gene Model

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

AlphaFold

Q8BX94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040668
AA Change: G198S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046538
Gene: ENSMUSG00000039050
AA Change: G198S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142376

Meta Mutation Damage Score

0.8779

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Ankrd27	T	C	7: 35,315,265 (GRCm39)		probably benign	Het
Anxa3	T	C	5: 96,978,349 (GRCm39)		probably null	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cep112	A	T	11: 108,746,671 (GRCm39)	R176S	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cpped1	A	C	16: 11,712,745 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dnah6	G	A	6: 73,090,564 (GRCm39)	S2210L	probably benign	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Epb41l2	T	C	10: 25,364,842 (GRCm39)		probably benign	Het
Fam178b	A	G	1: 36,671,539 (GRCm39)	L194P	probably damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gimap9	A	G	6: 48,654,812 (GRCm39)	H133R	probably benign	Het
Gpbp1	A	T	13: 111,603,512 (GRCm39)		probably null	Het
Gpr89	A	G	3: 96,804,743 (GRCm39)	Y38H	probably damaging	Het
Gsdmc3	T	A	15: 63,732,105 (GRCm39)	Y307F	probably benign	Het
H4c16	T	A	6: 136,781,299 (GRCm39)	I27F	probably damaging	Het
Hip1	C	T	5: 135,485,900 (GRCm39)	R101K	probably damaging	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Igfn1	T	C	1: 135,892,479 (GRCm39)	K2214E	probably damaging	Het
Itgal	A	T	7: 126,927,919 (GRCm39)	E1038V	probably null	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kctd15	T	C	7: 34,344,366 (GRCm39)	D95G	possibly damaging	Het
Kif1a	A	T	1: 92,996,199 (GRCm39)		probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lrrc7	A	G	3: 157,885,429 (GRCm39)	F432L	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Nisch	T	C	14: 30,898,803 (GRCm39)		probably benign	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rars2	T	C	4: 34,656,835 (GRCm39)	S495P	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rhou	T	C	8: 124,382,258 (GRCm39)	V100A	probably damaging	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Scmh1	G	T	4: 120,340,869 (GRCm39)	C185F	probably damaging	Het
Sema3d	A	T	5: 12,592,549 (GRCm39)	Q326L	possibly damaging	Het
Sis	T	A	3: 72,821,934 (GRCm39)	K1376*	probably null	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc26a5	A	G	5: 22,028,545 (GRCm39)	V304A	probably benign	Het
Slc39a7	C	T	17: 34,250,241 (GRCm39)		probably benign	Het
Slco1a4	A	G	6: 141,761,308 (GRCm39)	V435A	possibly damaging	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tgm5	T	A	2: 120,879,304 (GRCm39)		probably benign	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem132d	G	A	5: 127,872,987 (GRCm39)	R541W	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tpbgl	G	T	7: 99,275,233 (GRCm39)	A208E	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Ulk1	T	C	5: 110,936,028 (GRCm39)	E827G	probably benign	Het
Vps13a	A	G	19: 16,687,790 (GRCm39)	V886A	possibly damaging	Het
Wrn	A	T	8: 33,814,584 (GRCm39)	C44S	probably benign	Het
Zscan22	T	A	7: 12,640,750 (GRCm39)	C331*	probably null	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
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
R8508:Osbpl2	UTSW	2	179,797,136 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTGTCAGAACTGGAGGCTTCTG -3'
(R):5'- AGGAAGCCCTCTGAGAAGTG -3'

Sequencing Primer
(F):5'- TCCTATATCAGTATCTAAGGGAGGGC -3'
(R):5'- GTGGAAGCCATAACGTCCTC -3'

Posted On

2014-10-16