Mutagenetix > Incidental Mutation

Incidental Mutation 'R1808:Osbp'

203645

Institutional Source

Beutler Lab

Gene Symbol

Osbp

Ensembl Gene

ENSMUSG00000024687

Gene Name

oxysterol binding protein

Synonyms

1110018F06Rik

MMRRC Submission

039837-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R1808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11943305-11971476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11948142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000025590 (fasta)

Gene Model

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

AlphaFold

Q3B7Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025590
AA Change: S150P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025590
Gene: ENSMUSG00000024687
AA Change: S150P

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	G	T	5: 146,121,691 (GRCm39)	Y69*	probably null	Het
2310011J03Rik	A	G	10: 80,156,015 (GRCm39)		probably null	Het
A2ml1	A	C	6: 128,520,262 (GRCm39)	D1367E	probably damaging	Het
Adam6a	C	G	12: 113,508,334 (GRCm39)	L236V	probably benign	Het
Arf3	T	C	15: 98,638,954 (GRCm39)	N101S	probably benign	Het
Arhgap42	T	C	9: 9,180,051 (GRCm39)	E76G	probably damaging	Het
Atp2a1	A	G	7: 126,052,573 (GRCm39)	F382S	probably damaging	Het
Bud13	T	A	9: 46,199,705 (GRCm39)	F355L	probably benign	Het
C2	G	A	17: 35,083,508 (GRCm39)	P349S	probably damaging	Het
Cbl	C	A	9: 44,075,526 (GRCm39)	G373V	probably damaging	Het
Ccdc3	T	A	2: 5,142,896 (GRCm39)	L51Q	probably damaging	Het
Ccdc34	T	A	2: 109,874,601 (GRCm39)	M320K	probably benign	Het
Cntln	A	G	4: 85,015,000 (GRCm39)	E1097G	probably damaging	Het
Ctsc	A	C	7: 87,948,750 (GRCm39)	K195Q	possibly damaging	Het
Ctsf	C	T	19: 4,906,562 (GRCm39)	P163L	probably benign	Het
Dcxr	A	T	11: 120,616,438 (GRCm39)		probably null	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dnah8	T	C	17: 30,903,160 (GRCm39)	L933P	probably damaging	Het
Dtna	T	C	18: 23,702,697 (GRCm39)	L76P	probably damaging	Het
Fcgbp	T	A	7: 27,784,515 (GRCm39)	C192S	probably benign	Het
Galnt5	T	A	2: 57,916,137 (GRCm39)	D683E	probably benign	Het
Greb1l	G	A	18: 10,542,143 (GRCm39)	A1297T	probably benign	Het
Grik4	T	C	9: 42,540,322 (GRCm39)	N286S	probably benign	Het
Hrc	A	T	7: 44,986,202 (GRCm39)	E451V	probably damaging	Het
Hrh3	G	A	2: 179,741,577 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,455,695 (GRCm39)	I152T	probably damaging	Het
Irgm1	A	T	11: 48,757,259 (GRCm39)	V184D	probably damaging	Het
Itga5	C	T	15: 103,258,826 (GRCm39)	A791T	probably damaging	Het
Kcp	T	C	6: 29,505,654 (GRCm39)	T73A	probably benign	Het
Kidins220	A	G	12: 25,053,008 (GRCm39)	T433A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Kmt2d	T	C	15: 98,764,567 (GRCm39)	D12G	probably damaging	Het
Mms19	A	G	19: 41,954,698 (GRCm39)	S74P	probably damaging	Het
Myh1	G	T	11: 67,102,300 (GRCm39)	E864*	probably null	Het
Nek1	A	G	8: 61,469,264 (GRCm39)	D107G	probably damaging	Het
Npc1	T	C	18: 12,327,149 (GRCm39)	N1149D	probably damaging	Het
Or14j6	T	A	17: 38,214,661 (GRCm39)	S75T	probably damaging	Het
Or3a1b	C	A	11: 74,012,257 (GRCm39)	S47R	probably damaging	Het
Or4k36	T	C	2: 111,146,343 (GRCm39)	V173A	probably benign	Het
Or5p79	A	C	7: 108,221,817 (GRCm39)	K266T	possibly damaging	Het
Paf1	T	C	7: 28,096,247 (GRCm39)	Y287H	probably damaging	Het
Pdgfrb	T	C	18: 61,201,174 (GRCm39)	V420A	probably benign	Het
Pdss1	G	T	2: 22,796,846 (GRCm39)	E120*	probably null	Het
Pink1	A	T	4: 138,044,630 (GRCm39)	V339E	probably damaging	Het
Pkn3	C	T	2: 29,969,663 (GRCm39)	R58C	probably damaging	Het
Pm20d1	G	A	1: 131,730,165 (GRCm39)	V235I	probably benign	Het
Ppp2r2a	A	G	14: 67,276,412 (GRCm39)	I31T	probably damaging	Het
Rbms3	T	C	9: 116,651,894 (GRCm39)	E152G	probably damaging	Het
Rfx1	A	C	8: 84,821,677 (GRCm39)	Q804H	probably damaging	Het
Rpe	G	T	1: 66,754,356 (GRCm39)	V143L	probably benign	Het
Sap30l	G	T	11: 57,700,771 (GRCm39)	V142L	probably benign	Het
Sh3tc1	T	C	5: 35,863,268 (GRCm39)	Q973R	probably benign	Het
Slc10a2	T	C	8: 5,154,856 (GRCm39)	T110A	probably damaging	Het
Snrnp200	A	T	2: 127,060,947 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,948 (GRCm39)		probably null	Het
Spaca3	T	A	11: 80,758,511 (GRCm39)	V158E	probably damaging	Het
Sprtn	C	A	8: 125,629,770 (GRCm39)	N354K	probably benign	Het
Stab1	T	A	14: 30,863,101 (GRCm39)	Y2166F	possibly damaging	Het
Tmem106c	G	A	15: 97,866,548 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,918,168 (GRCm39)	S1248P	probably damaging	Het
Tshr	T	C	12: 91,504,090 (GRCm39)	F343L	probably benign	Het
Ttn	C	A	2: 76,555,698 (GRCm39)	A30436S	probably damaging	Het
Ubxn2a	A	T	12: 4,935,839 (GRCm39)	M68K	probably benign	Het
Ucp2	T	C	7: 100,148,021 (GRCm39)	V238A	probably damaging	Het
Urgcp	C	A	11: 5,667,242 (GRCm39)	L365F	probably damaging	Het
Vezt	A	T	10: 93,826,026 (GRCm39)	D328E	probably damaging	Het
Vmn1r168	G	T	7: 23,240,184 (GRCm39)	V14L	probably benign	Het
Vps13b	T	C	15: 35,792,205 (GRCm39)	F2158L	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
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
R6255:Osbp	UTSW	19	11,955,317 (GRCm39)	missense	possibly damaging	0.64
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'- TTCAACGGCCCAGAGTTAATAAG -3'
(R):5'- AGCTTGGGATATCTAAGACATGG -3'

Sequencing Primer
(F):5'- CGGCCCAGAGTTAATAAGAGGAAC -3'
(R):5'- TCAAAATGTACACTGCAGTCAGG -3'

Posted On

2014-06-23