Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Osbpl3'

40395

Institutional Source

Beutler Lab

Gene Symbol

Osbpl3

Ensembl Gene

ENSMUSG00000029822

Gene Name

oxysterol binding protein-like 3

Synonyms

6720421I08Rik, OSBP3, ORP3, 1200014M06Rik

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50293330-50456201 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50348018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 167 (V167I)

Ref Sequence

ENSEMBL: ENSMUSP00000110112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071728] [ENSMUST00000090019] [ENSMUST00000114466] [ENSMUST00000114468] [ENSMUST00000136926] [ENSMUST00000146341] [ENSMUST00000203907]

AlphaFold

Q9DBS9

Predicted Effect

probably benign
Transcript: ENSMUST00000071728
AA Change: V167I

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

SMART Domains

Protein: ENSMUSP00000071643
Gene: ENSMUSG00000029822
AA Change: V167I

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	254	311	4e-25	BLAST
low complexity region	392	425	N/A	INTRINSIC
Pfam:Oxysterol_BP	459	804	3.2e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090019
AA Change: V167I

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

SMART Domains

Protein: ENSMUSP00000087473
Gene: ENSMUSG00000029822
AA Change: V167I

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	288	342	4e-25	BLAST
low complexity region	459	492	N/A	INTRINSIC
Pfam:Oxysterol_BP	526	870	3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114466
AA Change: V167I

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

SMART Domains

Protein: ENSMUSP00000110110
Gene: ENSMUSG00000029822
AA Change: V167I

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	288	342	3e-25	BLAST
low complexity region	423	456	N/A	INTRINSIC
Pfam:Oxysterol_BP	490	835	3.5e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114468
AA Change: V167I

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

SMART Domains

Protein: ENSMUSP00000110112
Gene: ENSMUSG00000029822
AA Change: V167I

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	147	9.56e-11	SMART
low complexity region	177	191	N/A	INTRINSIC
Blast:PH	254	311	4e-25	BLAST
low complexity region	428	461	N/A	INTRINSIC
Pfam:Oxysterol_BP	495	840	1.3e-138	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133141

Predicted Effect

probably benign
Transcript: ENSMUST00000136926

SMART Domains

Protein: ENSMUSP00000144934
Gene: ENSMUSG00000029822

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
SCOP:d1btka_	50	75	5e-4	SMART
Blast:PH	51	76	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000146341

SMART Domains

Protein: ENSMUSP00000114472
Gene: ENSMUSG00000029822

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
PH	51	144	1.27e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203907

SMART Domains

Protein: ENSMUSP00000145249
Gene: ENSMUSG00000029822

Domain	Start	End	E-Value	Type
Blast:PH	1	91	1e-57	BLAST
low complexity region	208	241	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly damaging	Het

Other mutations in Osbpl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Osbpl3	APN	6	50323068	missense	probably damaging	1.00
IGL01784:Osbpl3	APN	6	50344922	missense	probably damaging	1.00
IGL02221:Osbpl3	APN	6	50327367	unclassified	probably benign
IGL02323:Osbpl3	APN	6	50346326	critical splice donor site	probably null
IGL02894:Osbpl3	APN	6	50346332	missense	possibly damaging	0.89
H8562:Osbpl3	UTSW	6	50347466	missense	probably benign	0.09
PIT4283001:Osbpl3	UTSW	6	50346088	missense	probably benign	0.01
R0226:Osbpl3	UTSW	6	50353008	missense	probably damaging	1.00
R0416:Osbpl3	UTSW	6	50348018	missense	probably benign
R0601:Osbpl3	UTSW	6	50299403	missense	probably benign	0.05
R0826:Osbpl3	UTSW	6	50346377	missense	probably damaging	1.00
R1390:Osbpl3	UTSW	6	50308427	missense	probably damaging	1.00
R1520:Osbpl3	UTSW	6	50346431	missense	possibly damaging	0.75
R1603:Osbpl3	UTSW	6	50323093	missense	probably damaging	1.00
R1678:Osbpl3	UTSW	6	50336213	critical splice donor site	probably null
R1843:Osbpl3	UTSW	6	50370143	missense	probably damaging	1.00
R1943:Osbpl3	UTSW	6	50320074	missense	probably benign	0.16
R3435:Osbpl3	UTSW	6	50348070	missense	possibly damaging	0.94
R3768:Osbpl3	UTSW	6	50348002	missense	possibly damaging	0.64
R4746:Osbpl3	UTSW	6	50328674	missense	probably damaging	0.99
R4751:Osbpl3	UTSW	6	50300997	missense	possibly damaging	0.95
R4776:Osbpl3	UTSW	6	50300973	missense	probably benign	0.01
R4814:Osbpl3	UTSW	6	50353000	missense	probably damaging	1.00
R4841:Osbpl3	UTSW	6	50309376	missense	probably damaging	1.00
R4881:Osbpl3	UTSW	6	50352784	missense	possibly damaging	0.95
R4999:Osbpl3	UTSW	6	50336297	missense	probably damaging	0.99
R5512:Osbpl3	UTSW	6	50309360	missense	probably damaging	0.98
R6282:Osbpl3	UTSW	6	50348083	splice site	probably null
R6304:Osbpl3	UTSW	6	50312674	missense	probably damaging	1.00
R6905:Osbpl3	UTSW	6	50351882	missense	probably damaging	1.00
R7000:Osbpl3	UTSW	6	50297157	missense	probably damaging	1.00
R7102:Osbpl3	UTSW	6	50320135	missense	probably damaging	1.00
R7275:Osbpl3	UTSW	6	50346430	missense	probably benign	0.02
R7334:Osbpl3	UTSW	6	50344906	missense	possibly damaging	0.78
R7368:Osbpl3	UTSW	6	50348098	missense	probably damaging	1.00
R8052:Osbpl3	UTSW	6	50346015	missense	probably damaging	1.00
R8183:Osbpl3	UTSW	6	50303109	missense	probably benign	0.00
R8810:Osbpl3	UTSW	6	50351872	missense	probably damaging	1.00
R8932:Osbpl3	UTSW	6	50327391	missense	probably benign	0.37
R9168:Osbpl3	UTSW	6	50352782	critical splice donor site	probably null
R9447:Osbpl3	UTSW	6	50344877	nonsense	probably null
R9476:Osbpl3	UTSW	6	50336214	critical splice donor site	probably null
R9510:Osbpl3	UTSW	6	50336214	critical splice donor site	probably null
R9788:Osbpl3	UTSW	6	50347364	critical splice donor site	probably null
RF011:Osbpl3	UTSW	6	50348138	critical splice acceptor site	probably benign
Z1088:Osbpl3	UTSW	6	50297097	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTACGCAGGCTTAGCTGCATC -3'
(R):5'- TCTTTGAGTGTCCTCCGAGACCAC -3'

Sequencing Primer
(F):5'- TTAGCTGCATCCGACAGG -3'
(R):5'- ATGAATAACTGATCCCGTCTTAGCC -3'

Posted On

2013-05-23