Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Osbpl9'

58590

Institutional Source

Beutler Lab

Gene Symbol

Osbpl9

Ensembl Gene

ENSMUSG00000028559

Gene Name

oxysterol binding protein-like 9

Synonyms

ORP-9, 2600011I06Rik

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109061145-109202272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109083128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 287 (E287G)

Ref Sequence

ENSEMBL: ENSMUSP00000124370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000084366] [ENSMUST00000159545] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000161363] [ENSMUST00000162787] [ENSMUST00000194478]

AlphaFold

A2A8Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030288
AA Change: E300G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: E300G

Domain	Start	End	E-Value	Type
PH	3	101	8.5e-17	SMART
low complexity region	253	274	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	349	362	N/A	INTRINSIC
Pfam:Oxysterol_BP	377	729	7.3e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084366
AA Change: E203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: E203G

Domain	Start	End	E-Value	Type
low complexity region	156	177	N/A	INTRINSIC
low complexity region	188	204	N/A	INTRINSIC
low complexity region	252	265	N/A	INTRINSIC
Pfam:Oxysterol_BP	277	634	7.2e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159198

Predicted Effect

probably benign
Transcript: ENSMUST00000159545

SMART Domains

Protein: ENSMUSP00000123856
Gene: ENSMUSG00000028559

Domain	Start	End	E-Value	Type
Blast:PH	3	54	6e-33	BLAST
SCOP:d1pls__	4	46	9e-8	SMART
PDB:2KCJ\|A	4	55	1e-10	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160271
AA Change: E190G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: E190G

Domain	Start	End	E-Value	Type
low complexity region	143	164	N/A	INTRINSIC
low complexity region	175	191	N/A	INTRINSIC
low complexity region	239	252	N/A	INTRINSIC
Pfam:Oxysterol_BP	264	621	4.7e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160774
AA Change: E283G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: E283G

Domain	Start	End	E-Value	Type
PH	3	84	6.46e-8	SMART
low complexity region	236	257	N/A	INTRINSIC
low complexity region	268	284	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
Pfam:Oxysterol_BP	357	714	2.8e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160895

Predicted Effect

probably damaging
Transcript: ENSMUST00000161363
AA Change: E220G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: E220G

Domain	Start	End	E-Value	Type
Blast:PH	13	34	3e-6	BLAST
low complexity region	173	194	N/A	INTRINSIC
low complexity region	205	221	N/A	INTRINSIC
low complexity region	269	282	N/A	INTRINSIC
Pfam:Oxysterol_BP	294	651	2.2e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161602

Predicted Effect

probably damaging
Transcript: ENSMUST00000162787
AA Change: E287G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: E287G

Domain	Start	End	E-Value	Type
PH	3	101	8.5e-17	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	272	288	N/A	INTRINSIC
low complexity region	336	349	N/A	INTRINSIC
Pfam:Oxysterol_BP	361	718	2.8e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194478
AA Change: E310G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: E310G

Domain	Start	End	E-Value	Type
PH	3	101	3.7e-19	SMART
low complexity region	263	284	N/A	INTRINSIC
low complexity region	295	311	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Oxysterol_BP	384	741	2e-79	PFAM

Meta Mutation Damage Score

0.1523

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

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 some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Osbpl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Osbpl9	APN	4	109072010	missense	probably damaging	1.00
IGL00793:Osbpl9	APN	4	109087431	missense	probably damaging	0.99
IGL00809:Osbpl9	APN	4	109133763	missense	probably damaging	1.00
IGL02071:Osbpl9	APN	4	109071979	missense	probably damaging	1.00
IGL02547:Osbpl9	APN	4	109068483	nonsense	probably null
IGL02822:Osbpl9	APN	4	109072921	missense	probably damaging	1.00
IGL03074:Osbpl9	APN	4	109071961	missense	probably damaging	1.00
IGL03193:Osbpl9	APN	4	109066966	missense	possibly damaging	0.90
IGL03196:Osbpl9	APN	4	109072864	missense	probably damaging	1.00
IGL03306:Osbpl9	APN	4	109172332	splice site	probably benign
IGL03323:Osbpl9	APN	4	109062459	splice site	probably benign
Oblong	UTSW	4	109091679	missense	possibly damaging	0.62
R0211:Osbpl9	UTSW	4	109073124	missense	probably damaging	1.00
R0368:Osbpl9	UTSW	4	109066932	missense	probably damaging	1.00
R1439:Osbpl9	UTSW	4	109101156	missense	probably damaging	1.00
R1711:Osbpl9	UTSW	4	109066218	missense	probably damaging	1.00
R1757:Osbpl9	UTSW	4	109064583	missense	probably damaging	1.00
R2237:Osbpl9	UTSW	4	109156657	missense	probably damaging	1.00
R2295:Osbpl9	UTSW	4	109202134	missense	probably damaging	0.99
R2418:Osbpl9	UTSW	4	109066218	missense	probably damaging	1.00
R3111:Osbpl9	UTSW	4	109083093	missense	probably benign	0.08
R4202:Osbpl9	UTSW	4	109172240	intron	probably benign
R4672:Osbpl9	UTSW	4	109064609	missense	possibly damaging	0.82
R4706:Osbpl9	UTSW	4	109156687	missense	probably damaging	1.00
R4856:Osbpl9	UTSW	4	109068367	missense	probably benign	0.38
R4886:Osbpl9	UTSW	4	109068367	missense	probably benign	0.38
R5035:Osbpl9	UTSW	4	109066167	missense	probably damaging	0.99
R5309:Osbpl9	UTSW	4	109066155	missense	probably damaging	1.00
R5400:Osbpl9	UTSW	4	109062300	nonsense	probably null
R5719:Osbpl9	UTSW	4	109062566	nonsense	probably null
R5810:Osbpl9	UTSW	4	109086374	missense	probably benign	0.00
R6237:Osbpl9	UTSW	4	109156702	missense	probably damaging	1.00
R6575:Osbpl9	UTSW	4	109072932	missense	possibly damaging	0.89
R6648:Osbpl9	UTSW	4	109091679	missense	possibly damaging	0.62
R6675:Osbpl9	UTSW	4	109133828	splice site	probably null
R7130:Osbpl9	UTSW	4	109083099	missense	probably benign
R7356:Osbpl9	UTSW	4	109068480	nonsense	probably null
R7615:Osbpl9	UTSW	4	109086339	missense	probably damaging	1.00
R7753:Osbpl9	UTSW	4	109133773	missense	possibly damaging	0.86
R7772:Osbpl9	UTSW	4	109066187	missense	probably damaging	0.99
R7788:Osbpl9	UTSW	4	109062494	missense	probably benign	0.41
R8083:Osbpl9	UTSW	4	109086375	missense	possibly damaging	0.74
R8143:Osbpl9	UTSW	4	109065709	missense	probably benign	0.12
R8323:Osbpl9	UTSW	4	109107922	missense	probably benign	0.01
R8331:Osbpl9	UTSW	4	109066181	missense	probably damaging	1.00
R8406:Osbpl9	UTSW	4	109064573	missense	possibly damaging	0.82
R8531:Osbpl9	UTSW	4	109156711	missense	probably damaging	1.00
R8715:Osbpl9	UTSW	4	109102576	missense	probably benign	0.21
R8888:Osbpl9	UTSW	4	109073136	missense	probably benign	0.03
R8895:Osbpl9	UTSW	4	109073136	missense	probably benign	0.03
R9079:Osbpl9	UTSW	4	109063447	missense	possibly damaging	0.48
R9379:Osbpl9	UTSW	4	109083202	missense	probably damaging	0.99
Z1177:Osbpl9	UTSW	4	109107880	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGATGGCAGGGCCACTACAGAAAC -3'
(R):5'- CGTGTGTGCAATCAGAAGGACTCC -3'

Sequencing Primer
(F):5'- TACAGAGCTAATCTAACATTGCCG -3'
(R):5'- tgtgaatccctggaatcagtg -3'

Posted On

2013-07-11