Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Osbpl9'

190535

Institutional Source

Beutler Lab

Gene Symbol

Osbpl9

Ensembl Gene

ENSMUSG00000028559

Gene Name

oxysterol binding protein-like 9

Synonyms

ORP-9, 2600011I06Rik

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109061145-109202272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109066218 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 495 (C495S)

Ref Sequence

ENSEMBL: ENSMUSP00000124742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030288] [ENSMUST00000065977] [ENSMUST00000084366] [ENSMUST00000102736] [ENSMUST00000159545] [ENSMUST00000160271] [ENSMUST00000160774] [ENSMUST00000162787] [ENSMUST00000194478] [ENSMUST00000161363]

Predicted Effect

probably benign
Transcript: ENSMUST00000030288
AA Change: C512S

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030288
Gene: ENSMUSG00000028559
AA Change: C512S

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 benign
Transcript: ENSMUST00000065977

SMART Domains

Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510

Domain	Start	End	E-Value	Type
low complexity region	139	165	N/A	INTRINSIC
low complexity region	172	209	N/A	INTRINSIC
Pfam:Peptidase_M16	210	348	1.1e-43	PFAM
Pfam:Peptidase_M16_C	373	559	2.3e-22	PFAM
Pfam:Peptidase_M16_C	849	1032	1.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084366
AA Change: C415S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081396
Gene: ENSMUSG00000028559
AA Change: C415S

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

probably benign
Transcript: ENSMUST00000102736

SMART Domains

Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510

Domain	Start	End	E-Value	Type
low complexity region	139	165	N/A	INTRINSIC
low complexity region	172	209	N/A	INTRINSIC
Pfam:Peptidase_M16	210	348	1.4e-43	PFAM
Pfam:Peptidase_M16_C	400	515	1.1e-9	PFAM
Pfam:Peptidase_M16_C	805	988	2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150784

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 benign
Transcript: ENSMUST00000160271
AA Change: C402S

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124112
Gene: ENSMUSG00000028559
AA Change: C402S

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: C495S

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

SMART Domains

Protein: ENSMUSP00000124742
Gene: ENSMUSG00000028559
AA Change: C495S

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

possibly damaging
Transcript: ENSMUST00000162787
AA Change: C499S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124370
Gene: ENSMUSG00000028559
AA Change: C499S

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: C522S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141991
Gene: ENSMUSG00000028559
AA Change: C522S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161363
AA Change: C432S

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125714
Gene: ENSMUSG00000028559
AA Change: C432S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	possibly damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	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
R0620:Osbpl9	UTSW	4	109083128	missense	probably damaging	1.00
R1439:Osbpl9	UTSW	4	109101156	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
Z1177:Osbpl9	UTSW	4	109107880	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCATAGCCATTGGGGAAC -3'
(R):5'- AGAACAGGACACGTCTTAAACCTGC -3'

Sequencing Primer
(F):5'- GGTGATATAGTTTATACCCCACCCAG -3'
(R):5'- TGCGGGAGTTGCCATAGC -3'

Posted On

2014-05-14