Mutagenetix > Incidental Mutations

Incidental Mutation 'R0948:Osbpl10'

81719

Institutional Source

Beutler Lab

Gene Symbol

Osbpl10

Ensembl Gene

ENSMUSG00000040875

Gene Name

oxysterol binding protein-like 10

Synonyms

C820004B04Rik, OPR-10, 4933433D06Rik

MMRRC Submission

039087-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0948 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

114978569-115232225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115167119 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 119 (V119E)

Ref Sequence

ENSEMBL: ENSMUSP00000138760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046627] [ENSMUST00000182199] [ENSMUST00000182384] [ENSMUST00000183104] [ENSMUST00000183141]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046627
AA Change: V83E

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

SMART Domains

Protein: ENSMUSP00000038013
Gene: ENSMUSG00000040875
AA Change: V83E

Domain	Start	End	E-Value	Type
low complexity region	95	116	N/A	INTRINSIC
Pfam:Oxysterol_BP	229	535	7.8e-70	PFAM
Pfam:Oxysterol_BP	532	589	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182199

SMART Domains

Protein: ENSMUSP00000138206
Gene: ENSMUSG00000040875

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-19	BLAST
PDB:2D9X\|A	1	42	2e-8	PDB
SCOP:d1ki1b2	10	42	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182363

Predicted Effect

probably damaging
Transcript: ENSMUST00000182384
AA Change: V119E

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

SMART Domains

Protein: ENSMUSP00000138552
Gene: ENSMUSG00000040875
AA Change: V119E

Domain	Start	End	E-Value	Type
Blast:PH	1	36	8e-16	BLAST
PDB:2D9X\|A	2	46	6e-7	PDB
SCOP:d1ki1b2	10	42	9e-3	SMART
low complexity region	131	152	N/A	INTRINSIC
Pfam:Oxysterol_BP	262	626	1.5e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182413

Predicted Effect

probably damaging
Transcript: ENSMUST00000183104
AA Change: V258E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138287
Gene: ENSMUSG00000040875
AA Change: V258E

Domain	Start	End	E-Value	Type
low complexity region	4	75	N/A	INTRINSIC
PH	77	175	2.72e-15	SMART
low complexity region	270	291	N/A	INTRINSIC
Pfam:Oxysterol_BP	401	765	1.4e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183141
AA Change: V119E

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

SMART Domains

Protein: ENSMUSP00000138760
Gene: ENSMUSG00000040875
AA Change: V119E

Domain	Start	End	E-Value	Type
Blast:PH	1	36	3e-18	BLAST
PDB:2D9X\|A	2	46	6e-8	PDB
SCOP:d1ki1b2	10	42	9e-4	SMART
low complexity region	131	152	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.4%
20x: 92.4%

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. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	C	T	19: 8,890,026	T63M	probably damaging	Het
Abcb1a	T	A	5: 8,740,621		probably null	Het
Ahrr	T	C	13: 74,213,769	D537G	probably damaging	Het
Anxa4	T	A	6: 86,741,931	I269F	probably damaging	Het
Atm	A	T	9: 53,495,958	M1160K	probably benign	Het
Ccdc175	A	G	12: 72,131,123	Y434H	probably damaging	Het
Col19a1	C	T	1: 24,296,801	A855T	probably damaging	Het
Cyp2a4	A	G	7: 26,310,788	D246G	probably damaging	Het
Dmbt1	T	C	7: 131,093,117	L840P	possibly damaging	Het
Dock6	A	T	9: 21,801,533	D2009E	probably damaging	Het
Doxl2	A	G	6: 48,976,344	Y401C	probably damaging	Het
E2f3	C	T	13: 29,985,533	A46T	probably damaging	Het
Ect2l	A	T	10: 18,140,586	C635S	probably damaging	Het
Fam129b	A	G	2: 32,922,860	Y480C	probably damaging	Het
Fer1l6	A	G	15: 58,564,075	D439G	probably benign	Het
Gm5434	A	T	12: 36,090,935		probably benign	Het
Hao1	A	C	2: 134,530,773	M105R	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Igsf10	A	G	3: 59,331,104	I552T	probably damaging	Het
Il31ra	A	G	13: 112,530,378	S470P	possibly damaging	Het
Mfsd1	A	G	3: 67,596,734	N353S	possibly damaging	Het
Mga	T	A	2: 119,941,659	F1667I	possibly damaging	Het
Nwd2	T	C	5: 63,807,312	V1413A	probably damaging	Het
Olfr906	T	G	9: 38,488,948	S306R	probably benign	Het
Olfr914	G	A	9: 38,606,491	V9I	possibly damaging	Het
Plec	C	A	15: 76,205,687	R151L	probably benign	Het
Ptpn12	T	C	5: 20,998,043	H579R	probably benign	Het
Rnase4	G	T	14: 51,104,905	G29C	probably damaging	Het
Sim1	C	A	10: 50,981,327	S391*	probably null	Het
Sobp	A	T	10: 43,022,209	I460N	probably damaging	Het
Spns3	A	T	11: 72,545,940	D75E	probably damaging	Het
Strn4	T	A	7: 16,837,713	C26*	probably null	Het
Tacstd2	T	A	6: 67,535,118	I197L	probably damaging	Het
Trpc6	A	G	9: 8,610,415	T295A	possibly damaging	Het
Txnl1	G	T	18: 63,692,120	S18R	possibly damaging	Het
U2surp	A	G	9: 95,461,497		probably benign	Het
Vwce	A	G	19: 10,653,077	Y500C	probably damaging	Het
Wdr49	A	C	3: 75,450,851	S196A	probably benign	Het
Wfs1	T	C	5: 36,967,561	Y662C	probably damaging	Het
Wnt8b	A	C	19: 44,510,529	D133A	possibly damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zfp532	C	A	18: 65,623,818	A274E	probably damaging	Het
Zfp74	A	G	7: 29,935,937		probably null	Het

Other mutations in Osbpl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Osbpl10	APN	9	115176002	missense	probably benign	0.01
IGL01318:Osbpl10	APN	9	115232122	nonsense	probably null
IGL02023:Osbpl10	APN	9	115226722	missense	probably damaging	1.00
IGL02096:Osbpl10	APN	9	115216994	missense	possibly damaging	0.94
R0534:Osbpl10	UTSW	9	115167178	missense	probably damaging	1.00
R1073:Osbpl10	UTSW	9	115207553	nonsense	probably null
R2138:Osbpl10	UTSW	9	115232134	missense	probably benign	0.06
R3709:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R3710:Osbpl10	UTSW	9	115207587	missense	probably benign	0.11
R4406:Osbpl10	UTSW	9	115109481	missense	probably damaging	0.96
R4738:Osbpl10	UTSW	9	115216574	missense	probably damaging	1.00
R4778:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R4779:Osbpl10	UTSW	9	115109530	missense	probably damaging	1.00
R5828:Osbpl10	UTSW	9	115061876	missense	probably damaging	0.97
R5874:Osbpl10	UTSW	9	115226760	missense	probably damaging	1.00
R6052:Osbpl10	UTSW	9	115067315	splice site	probably null
R6103:Osbpl10	UTSW	9	115061872	nonsense	probably null
R6174:Osbpl10	UTSW	9	115109487	missense	probably benign	0.00
R6246:Osbpl10	UTSW	9	115226774	missense	probably benign	0.34
R7008:Osbpl10	UTSW	9	115061848	missense	probably damaging	1.00
R7027:Osbpl10	UTSW	9	115223698	missense	probably damaging	0.97
R7182:Osbpl10	UTSW	9	115067251	missense	probably damaging	1.00
R7285:Osbpl10	UTSW	9	115223703	missense	probably damaging	1.00
R7556:Osbpl10	UTSW	9	115207624	missense	probably damaging	1.00
R7810:Osbpl10	UTSW	9	115061894	missense	probably benign	0.01
R7853:Osbpl10	UTSW	9	115207658	missense	probably damaging	1.00
R7905:Osbpl10	UTSW	9	115062010	critical splice donor site	probably null
R8100:Osbpl10	UTSW	9	115167254	missense	probably benign
R8376:Osbpl10	UTSW	9	115223593	missense	probably damaging	1.00
R8515:Osbpl10	UTSW	9	115176068	missense	probably benign	0.00
R8537:Osbpl10	UTSW	9	115229909	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTAACGCCCTCTTCAGGTCAGTG -3'
(R):5'- TGTGATGAGGACAACTGGACCAGC -3'

Sequencing Primer
(F):5'- TTTGGGACATAAATGGATGGACC -3'
(R):5'- GAGTCCAGCACTCACCTG -3'

Posted On

2013-11-08