Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Osbpl5'

584700

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

ORP5, 1110006M06Rik, Obph1

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143242499-143310722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143248670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 631 (F631I)

Ref Sequence

ENSEMBL: ENSMUSP00000020411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499]

AlphaFold

Q9ER64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020411
AA Change: F631I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: F631I

Domain	Start	End	E-Value	Type
PH	151	269	1.02e-14	SMART
Pfam:Oxysterol_BP	394	738	2.9e-91	PFAM
transmembrane domain	879	897	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119499
AA Change: F607I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: F607I

Domain	Start	End	E-Value	Type
coiled coil region	92	122	N/A	INTRINSIC
PH	127	245	1.02e-14	SMART
Pfam:Oxysterol_BP	369	724	1e-93	PFAM
transmembrane domain	855	873	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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 that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dhx29	C	T	13: 113,064,176 (GRCm39)		probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Ern2	A	T	7: 121,769,464 (GRCm39)	V854E	probably damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Homer3	A	G	8: 70,742,063 (GRCm39)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per1	G	A	11: 68,997,339 (GRCm39)	R838H	probably damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tsg101	A	G	7: 46,563,159 (GRCm39)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably damaging	Het

Other mutations in Osbpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Osbpl5	APN	7	143,269,430 (GRCm39)	nonsense	probably null
IGL01996:Osbpl5	APN	7	143,261,081 (GRCm39)	critical splice donor site	probably null
IGL02135:Osbpl5	APN	7	143,258,862 (GRCm39)	missense	probably damaging	1.00
IGL02331:Osbpl5	APN	7	143,263,532 (GRCm39)	missense	probably benign	0.22
IGL02993:Osbpl5	APN	7	143,253,071 (GRCm39)	critical splice acceptor site	probably null
R0240:Osbpl5	UTSW	7	143,295,406 (GRCm39)	splice site	probably null
R0601:Osbpl5	UTSW	7	143,263,286 (GRCm39)	missense	probably damaging	0.98
R0609:Osbpl5	UTSW	7	143,248,558 (GRCm39)	missense	probably damaging	0.99
R0659:Osbpl5	UTSW	7	143,258,767 (GRCm39)	missense	probably damaging	0.97
R1532:Osbpl5	UTSW	7	143,248,817 (GRCm39)	missense	probably benign
R1579:Osbpl5	UTSW	7	143,262,939 (GRCm39)	missense	possibly damaging	0.93
R1595:Osbpl5	UTSW	7	143,256,955 (GRCm39)	missense	possibly damaging	0.88
R1666:Osbpl5	UTSW	7	143,262,776 (GRCm39)	missense	probably damaging	1.00
R1668:Osbpl5	UTSW	7	143,262,776 (GRCm39)	missense	probably damaging	1.00
R1713:Osbpl5	UTSW	7	143,248,110 (GRCm39)	missense	probably damaging	1.00
R1868:Osbpl5	UTSW	7	143,269,510 (GRCm39)	missense	probably damaging	1.00
R1901:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1902:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1903:Osbpl5	UTSW	7	143,256,918 (GRCm39)	missense	possibly damaging	0.83
R1911:Osbpl5	UTSW	7	143,243,662 (GRCm39)	missense	probably benign	0.00
R1982:Osbpl5	UTSW	7	143,295,408 (GRCm39)	critical splice donor site	probably null
R2014:Osbpl5	UTSW	7	143,295,429 (GRCm39)	missense	probably damaging	0.98
R2076:Osbpl5	UTSW	7	143,262,881 (GRCm39)	missense	probably damaging	1.00
R2192:Osbpl5	UTSW	7	143,247,596 (GRCm39)	nonsense	probably null
R2256:Osbpl5	UTSW	7	143,262,831 (GRCm39)	missense	probably damaging	1.00
R4271:Osbpl5	UTSW	7	143,249,339 (GRCm39)	nonsense	probably null
R4418:Osbpl5	UTSW	7	143,263,552 (GRCm39)	nonsense	probably null
R4450:Osbpl5	UTSW	7	143,248,643 (GRCm39)	missense	probably benign	0.00
R4573:Osbpl5	UTSW	7	143,248,053 (GRCm39)	missense	probably benign	0.00
R5325:Osbpl5	UTSW	7	143,245,665 (GRCm39)	missense	probably damaging	0.99
R5439:Osbpl5	UTSW	7	143,295,433 (GRCm39)	missense	possibly damaging	0.83
R5617:Osbpl5	UTSW	7	143,246,684 (GRCm39)	missense	possibly damaging	0.89
R5775:Osbpl5	UTSW	7	143,258,266 (GRCm39)	missense	probably benign	0.00
R5935:Osbpl5	UTSW	7	143,310,695 (GRCm39)	start gained	probably benign
R6906:Osbpl5	UTSW	7	143,248,065 (GRCm39)	missense	probably damaging	0.99
R7076:Osbpl5	UTSW	7	143,263,577 (GRCm39)	missense	probably benign	0.12
R7117:Osbpl5	UTSW	7	143,263,520 (GRCm39)	missense	probably benign	0.01
R7292:Osbpl5	UTSW	7	143,255,015 (GRCm39)	missense	probably damaging	1.00
R7594:Osbpl5	UTSW	7	143,247,534 (GRCm39)	missense	probably benign	0.02
R8028:Osbpl5	UTSW	7	143,269,472 (GRCm39)	missense	probably benign	0.00
R8061:Osbpl5	UTSW	7	143,256,461 (GRCm39)	missense	probably benign	0.03
R8314:Osbpl5	UTSW	7	143,248,833 (GRCm39)	missense	probably benign	0.05
R8482:Osbpl5	UTSW	7	143,258,731 (GRCm39)	missense	probably benign	0.12
R9202:Osbpl5	UTSW	7	143,254,498 (GRCm39)	missense	probably benign	0.45
R9430:Osbpl5	UTSW	7	143,263,526 (GRCm39)	missense	probably benign	0.01
R9687:Osbpl5	UTSW	7	143,247,598 (GRCm39)	missense	possibly damaging	0.86
R9735:Osbpl5	UTSW	7	143,248,673 (GRCm39)	missense	possibly damaging	0.76
R9749:Osbpl5	UTSW	7	143,249,308 (GRCm39)	missense	probably benign	0.14
YA93:Osbpl5	UTSW	7	143,247,607 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCAATGACACCCTAGAATGTG -3'
(R):5'- TCAACCAGATTTCCGGGAAG -3'

Sequencing Primer
(F):5'- CCTAGAATGTGCTCCCAGC -3'
(R):5'- CCAGATTTCCGGGAAGATCATGTC -3'

Posted On

2019-10-17