Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Osbpl9'

30314

Institutional Source

Beutler Lab

Gene Symbol

Osbpl9

Ensembl Gene

ENSMUSG00000028559

Gene Name

oxysterol binding protein-like 9

Synonyms

ORP-9, 2600011I06Rik

MMRRC Submission

038574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109061145-109202272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109066932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 499 (V499A)

Ref Sequence

ENSEMBL: ENSMUSP00000030288 (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: V499A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: V499A

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: V402A

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

SMART Domains

Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: V402A

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: ENSMUST00000139412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155434

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: V389A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: V389A

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: V482A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: V482A

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

probably damaging
Transcript: ENSMUST00000161363
AA Change: V419A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: V419A

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

probably damaging
Transcript: ENSMUST00000162787
AA Change: V486A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: V486A

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: V509A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: V509A

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

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. 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,008,350	K2333*	probably null	Het
Aox4	C	T	1: 58,213,079	L38F	probably benign	Het
Arhgef15	T	C	11: 68,954,693	E111G	probably damaging	Het
Atp8a2	A	T	14: 59,860,212	I789N	probably damaging	Het
Cdca2	A	G	14: 67,700,347	S286P	possibly damaging	Het
Chrnb1	T	A	11: 69,784,757	K457M	probably damaging	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,158,792	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,525,377	L278*	probably null	Het
Dnmt1	T	C	9: 20,941,757	E56G	probably damaging	Het
Fam160b1	A	G	19: 57,368,578	T34A	possibly damaging	Het
Fam166a	T	A	2: 25,220,673	D164E	probably benign	Het
Fbln5	A	G	12: 101,809,714		probably null	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabrr3	A	G	16: 59,440,596	D289G	probably damaging	Het
Gpr45	T	C	1: 43,033,016	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,411,707	E125G	probably null	Het
Il25	A	G	14: 54,935,174		probably null	Het
Itfg1	A	T	8: 85,764,407	W298R	probably damaging	Het
Kank1	A	T	19: 25,410,603	K547*	probably null	Het
Lama5	G	A	2: 180,181,230	R2748*	probably null	Het
Lrp4	C	T	2: 91,477,734	T508I	probably damaging	Het
Map3k10	C	T	7: 27,663,360	V434I	probably damaging	Het
Map3k6	A	G	4: 133,252,659	M1265V	probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Msh4	T	A	3: 153,888,825	Y113F	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrip1	A	G	16: 76,294,016	S218P	probably damaging	Het
Olfr1281	T	C	2: 111,328,787	Y123H	probably damaging	Het
Olfr1287	T	C	2: 111,449,788	I216T	probably benign	Het
Olig1	C	T	16: 91,270,652	S259F	probably damaging	Het
Pafah2	T	C	4: 134,422,491	V371A	probably benign	Het
Pkp1	T	A	1: 135,875,683	M712L	probably benign	Het
Pkp1	T	C	1: 135,886,852	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,960	T652A	probably benign	Het
Rab21	A	T	10: 115,298,890	V108E	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sema5b	T	A	16: 35,628,100	V82E	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc13a2	A	T	11: 78,404,800	L80*	probably null	Het
Slc1a5	C	T	7: 16,782,178	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,566,463	V172A	probably benign	Het
Slfn8	A	G	11: 83,017,132	L195P	probably damaging	Het
Smox	G	A	2: 131,522,158	S320N	probably damaging	Het
Sptan1	T	C	2: 29,993,915	V589A	probably benign	Het
Stim2	G	A	5: 54,110,140		probably null	Het
V1ra8	A	G	6: 90,202,962	D49G	probably damaging	Het
Vmn1r233	A	T	17: 20,994,607	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,065,827	K196*	probably null	Het
Wdr77	T	C	3: 105,962,066		probably null	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
R0620:Osbpl9	UTSW	4	109083128	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
R9775:Osbpl9	UTSW	4	109156550	intron	probably benign
Z1177:Osbpl9	UTSW	4	109107880	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGACAAGTGTTAGTTCCCCACCCC -3'
(R):5'- GGTGCAATGTTCAGTGCATACAAGG -3'

Sequencing Primer
(F):5'- CCCACCCCCTTCATTCTATG -3'
(R):5'- GCTCATGTTAGGTACATGAAGCC -3'

Posted On

2013-04-24