Mutagenetix > Incidental Mutation

Incidental Mutation 'R1532:Osbpl5'

166654

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

ORP5, 1110006M06Rik, Obph1

MMRRC Submission

039571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143242499-143310722 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143248817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 589 (M589K)

Ref Sequence

ENSEMBL: ENSMUSP00000113362 (fasta)

Gene Model

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

AlphaFold

Q9ER64

Predicted Effect

probably benign
Transcript: ENSMUST00000020411
AA Change: M613K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: M613K

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

probably benign
Transcript: ENSMUST00000119499
AA Change: M589K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: M589K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140502

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

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 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,166,302 (GRCm39)	H394N	probably benign	Het
Ahrr	A	G	13: 74,361,826 (GRCm39)	S558P	probably benign	Het
Ankrd26	T	C	6: 118,499,919 (GRCm39)	N1184S	probably damaging	Het
Anpep	A	T	7: 79,476,696 (GRCm39)	C14*	probably null	Het
Arhgap18	A	G	10: 26,736,718 (GRCm39)	D187G	possibly damaging	Het
Arhgef5	A	G	6: 43,250,337 (GRCm39)	T363A	probably benign	Het
Atxn1	A	T	13: 45,720,386 (GRCm39)	L503Q	possibly damaging	Het
Babam1	A	G	8: 71,852,277 (GRCm39)	D155G	possibly damaging	Het
Bbs9	A	G	9: 22,798,945 (GRCm39)	T858A	probably benign	Het
Cacna1g	C	A	11: 94,334,157 (GRCm39)	G828V	probably damaging	Het
Ccar2	T	C	14: 70,380,405 (GRCm39)	T392A	probably benign	Het
Cd163	T	C	6: 124,289,689 (GRCm39)	V469A	possibly damaging	Het
Cdh23	G	T	10: 60,150,110 (GRCm39)	N2576K	probably damaging	Het
Coro2b	A	G	9: 62,396,705 (GRCm39)	Y18H	probably damaging	Het
Crispld2	G	T	8: 120,750,311 (GRCm39)	K238N	probably benign	Het
Ctnnd2	T	C	15: 30,922,014 (GRCm39)	I880T	probably damaging	Het
Cubn	C	A	2: 13,292,472 (GRCm39)	C3237F	probably damaging	Het
Ddx31	A	G	2: 28,771,171 (GRCm39)	M519V	probably benign	Het
Dhx32	A	T	7: 133,350,753 (GRCm39)	C106S	possibly damaging	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnaaf1	T	C	8: 120,304,162 (GRCm39)	F67L	probably benign	Het
Duox1	T	G	2: 122,175,204 (GRCm39)	L1334R	probably damaging	Het
Dync1li2	A	T	8: 105,152,667 (GRCm39)	I322N	probably damaging	Het
Eml6	T	C	11: 29,742,256 (GRCm39)		probably null	Het
Entpd6	A	G	2: 150,600,670 (GRCm39)	Q126R	probably benign	Het
Entpd7	C	G	19: 43,679,516 (GRCm39)	P23R	possibly damaging	Het
Epha3	T	C	16: 63,366,541 (GRCm39)	I970V	probably benign	Het
Fras1	A	T	5: 96,861,855 (GRCm39)	H2163L	probably damaging	Het
Gse1	C	G	8: 121,294,949 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,999,301 (GRCm39)	V300A	probably damaging	Het
Hsd3b1	T	A	3: 98,760,214 (GRCm39)	D259V	probably damaging	Het
Hspbap1	T	C	16: 35,645,673 (GRCm39)	S453P	probably damaging	Het
Ifnl3	A	G	7: 28,223,652 (GRCm39)	T163A	probably benign	Het
Igbp1b	T	A	6: 138,635,442 (GRCm39)	M1L	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lpxn	T	C	19: 12,781,456 (GRCm39)		probably null	Het
Mast1	G	A	8: 85,655,238 (GRCm39)	Q249*	probably null	Het
Mink1	A	G	11: 70,492,833 (GRCm39)	D153G	probably null	Het
Mllt10	G	A	2: 18,097,646 (GRCm39)		probably null	Het
Mpl	C	T	4: 118,305,765 (GRCm39)	G420E	possibly damaging	Het
Ms4a1	T	A	19: 11,230,557 (GRCm39)	T215S	probably benign	Het
Ncapd3	C	T	9: 26,994,656 (GRCm39)	Q1179*	probably null	Het
Nr3c2	A	G	8: 77,635,733 (GRCm39)	H278R	probably damaging	Het
Or10v5	T	C	19: 11,805,983 (GRCm39)	I136V	probably benign	Het
Or52e18	T	C	7: 104,609,472 (GRCm39)	I156V	probably benign	Het
Or5b102	A	G	19: 13,041,639 (GRCm39)	Y288C	probably damaging	Het
Os9	C	T	10: 126,934,771 (GRCm39)	V353M	probably damaging	Het
Phf20	G	T	2: 156,144,969 (GRCm39)	G859V	possibly damaging	Het
Pkhd1	G	A	1: 20,187,625 (GRCm39)	T3561I	probably benign	Het
Prss46	G	A	9: 110,679,236 (GRCm39)	V146I	probably benign	Het
Ptprk	G	A	10: 28,461,626 (GRCm39)	V1139M	probably damaging	Het
Ranbp10	A	G	8: 106,500,963 (GRCm39)	L396P	probably benign	Het
Rb1cc1	A	G	1: 6,319,958 (GRCm39)	T1126A	probably benign	Het
Rbl2	G	A	8: 91,833,045 (GRCm39)	A659T	probably benign	Het
Rdm1	T	C	11: 101,524,643 (GRCm39)	L192P	probably damaging	Het
Reln	A	C	5: 22,239,742 (GRCm39)	W842G	probably damaging	Het
Scn5a	C	T	9: 119,362,913 (GRCm39)	R569H	probably damaging	Het
Sele	A	G	1: 163,881,420 (GRCm39)	K509R	probably benign	Het
Slc15a1	A	T	14: 121,713,396 (GRCm39)	I377N	possibly damaging	Het
Slc17a3	G	A	13: 24,040,483 (GRCm39)	G269D	probably damaging	Het
Slc35a5	T	C	16: 44,971,920 (GRCm39)	T115A	probably benign	Het
Slc5a12	T	G	2: 110,440,483 (GRCm39)	N157K	possibly damaging	Het
Sphkap	A	G	1: 83,234,924 (GRCm39)	V1634A	probably damaging	Het
Spta1	T	C	1: 174,074,919 (GRCm39)	S2382P	probably damaging	Het
Synj2	C	A	17: 6,084,194 (GRCm39)	S1100R	probably benign	Het
Tcf23	A	G	5: 31,130,901 (GRCm39)	T180A	probably benign	Het
Tnxb	T	C	17: 34,929,804 (GRCm39)	V2846A	probably damaging	Het
Tpr	T	A	1: 150,293,751 (GRCm39)	I915K	probably damaging	Het
Uba1y	C	T	Y: 828,862 (GRCm39)	H557Y	probably benign	Het
Unc45b	T	A	11: 82,827,700 (GRCm39)	D730E	probably benign	Het
Unc5b	A	T	10: 60,605,011 (GRCm39)	L734Q	probably damaging	Het
Vmn1r167	G	T	7: 23,204,204 (GRCm39)	H271N	probably benign	Het
Vmn2r76	A	G	7: 85,879,454 (GRCm39)	V282A	probably benign	Het
Xirp2	A	G	2: 67,344,283 (GRCm39)	K2175E	probably benign	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
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
R7555:Osbpl5	UTSW	7	143,248,670 (GRCm39)	missense	possibly damaging	0.65
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'- TCTTCCAACAGCACTGTGTGCC -3'
(R):5'- AGCACAGCCTGCAAGTCTAAGTC -3'

Sequencing Primer
(F):5'- TCCTCACTCGGAGTCCAGAAG -3'
(R):5'- AAGTCCCCTTGTCCTAATGGAATG -3'

Posted On

2014-04-13