Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Osbp'

506083

Institutional Source

Beutler Lab

Gene Symbol

Osbp

Ensembl Gene

ENSMUSG00000024687

Gene Name

oxysterol binding protein

Synonyms

1110018F06Rik

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6255 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

11943305-11971476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11955317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 323 (A323D)

Ref Sequence

ENSEMBL: ENSMUSP00000025590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025590]

AlphaFold

Q3B7Z2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025590
AA Change: A323D

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: A323D

Domain	Start	End	E-Value	Type
PH	87	181	1.21e-21	SMART
low complexity region	187	196	N/A	INTRINSIC
coiled coil region	288	324	N/A	INTRINSIC
PDB:2RR3\|B	344	377	3e-16	PDB
Pfam:Oxysterol_BP	416	791	8.8e-146	PFAM

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,825,535 (GRCm39)	G333S	probably damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp2c55	T	C	19: 39,007,111 (GRCm39)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Panx2	G	A	15: 88,951,821 (GRCm39)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,896,564 (GRCm39)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp831	T	C	2: 174,488,214 (GRCm39)	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	probably benign	Het

Other mutations in Osbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01971:Osbp	APN	19	11,967,999 (GRCm39)	missense	probably benign	0.00
R0025:Osbp	UTSW	19	11,961,322 (GRCm39)	missense	probably damaging	1.00
R0025:Osbp	UTSW	19	11,961,322 (GRCm39)	missense	probably damaging	1.00
R0141:Osbp	UTSW	19	11,951,223 (GRCm39)	missense	possibly damaging	0.84
R0764:Osbp	UTSW	19	11,961,520 (GRCm39)	splice site	probably benign
R1583:Osbp	UTSW	19	11,955,193 (GRCm39)	missense	probably benign	0.18
R1808:Osbp	UTSW	19	11,948,142 (GRCm39)	missense	probably damaging	1.00
R1853:Osbp	UTSW	19	11,951,255 (GRCm39)	missense	possibly damaging	0.48
R2007:Osbp	UTSW	19	11,951,265 (GRCm39)	missense	probably benign	0.31
R2291:Osbp	UTSW	19	11,951,198 (GRCm39)	nonsense	probably null
R3788:Osbp	UTSW	19	11,956,285 (GRCm39)	missense	probably benign	0.00
R4082:Osbp	UTSW	19	11,956,030 (GRCm39)	missense	probably benign
R5240:Osbp	UTSW	19	11,955,654 (GRCm39)	missense	probably damaging	1.00
R5413:Osbp	UTSW	19	11,961,855 (GRCm39)	missense	probably damaging	1.00
R5825:Osbp	UTSW	19	11,948,085 (GRCm39)	missense	probably damaging	0.98
R5907:Osbp	UTSW	19	11,951,240 (GRCm39)	missense	probably damaging	1.00
R7226:Osbp	UTSW	19	11,956,031 (GRCm39)	missense	probably benign
R7950:Osbp	UTSW	19	11,955,612 (GRCm39)	missense	probably benign	0.00
R9648:Osbp	UTSW	19	11,943,590 (GRCm39)	missense	probably damaging	1.00
X0024:Osbp	UTSW	19	11,955,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGACTAGTTGAGGTGCC -3'
(R):5'- CCTTTGCCAGAACAGCACTG -3'

Sequencing Primer
(F):5'- CTGACTAGTTGAGGTGCCATAAC -3'
(R):5'- GGCACAGTGGGTTCTTTTAAATAC -3'

Posted On

2018-02-28