Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Osbpl6'

448568

Institutional Source

Beutler Lab

Gene Symbol

Osbpl6

Ensembl Gene

ENSMUSG00000042359

Gene Name

oxysterol binding protein-like 6

Synonyms

1110062M20Rik, ORP-6

MMRRC Submission

043393-MU

Accession Numbers

Genbank: NM_145525; MGI: 2139014

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76406508-76600647 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76584513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 416 (D416G)

Ref Sequence

ENSEMBL: ENSMUSP00000139363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077972] [ENSMUST00000111929] [ENSMUST00000111930] [ENSMUST00000184442]

AlphaFold

Q8BXR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077972
AA Change: D562G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: D562G

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
low complexity region	537	550	N/A	INTRINSIC
Pfam:Oxysterol_BP	603	951	1.4e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111929
AA Change: D554G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: D554G

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
coiled coil region	441	472	N/A	INTRINSIC
low complexity region	529	542	N/A	INTRINSIC
Pfam:Oxysterol_BP	595	944	1.1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111930
AA Change: D523G

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: D523G

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
PH	87	183	3.65e-7	SMART
low complexity region	200	211	N/A	INTRINSIC
coiled coil region	255	285	N/A	INTRINSIC
coiled coil region	410	441	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
Pfam:Oxysterol_BP	564	913	1e-139	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124601

Predicted Effect

probably damaging
Transcript: ENSMUST00000184442
AA Change: D416G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: D416G

Domain	Start	End	E-Value	Type
Blast:PH	1	70	8e-41	BLAST
low complexity region	87	98	N/A	INTRINSIC
coiled coil region	142	172	N/A	INTRINSIC
coiled coil region	303	334	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
Pfam:Oxysterol_BP	457	794	2.6e-135	PFAM

Meta Mutation Damage Score

0.1229

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

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. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,492	L943P	probably damaging	Het
Abcg5	C	A	17: 84,672,291	V214F	probably damaging	Het
Ang	T	A	14: 51,101,429		probably benign	Het
Arfgef3	A	G	10: 18,647,798		probably null	Het
Arhgef4	A	G	1: 34,807,615		probably benign	Het
Atp11b	T	C	3: 35,812,279	I409T	probably damaging	Het
Atp5b	G	A	10: 128,088,562		probably benign	Het
Atp9a	G	A	2: 168,653,534	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,449,471	T223A	probably benign	Het
Bmp2k	T	C	5: 97,063,494	M507T	unknown	Het
Cep295	A	G	9: 15,332,532	S287P	probably damaging	Het
Chrna7	T	A	7: 63,148,601	D111V	probably damaging	Het
Cnr2	A	G	4: 135,917,436	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144	M305L	probably benign	Het
Cpb1	T	A	3: 20,263,742	D206V	probably damaging	Het
Cyp2c50	T	C	19: 40,113,500	L453S	probably damaging	Het
Ddx52	T	G	11: 83,949,682	S284A	probably benign	Het
Efcab1	A	T	16: 14,916,972	I69F	probably benign	Het
Eif2ak4	G	T	2: 118,388,851	R48L	probably benign	Het
Esrrb	A	G	12: 86,514,401	E303G	possibly damaging	Het
Fbxo21	A	G	5: 117,976,868	E23G	probably benign	Het
Fcamr	T	C	1: 130,811,526	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,590,550	S818*	probably null	Het
Fn1	T	C	1: 71,648,059	D213G	probably damaging	Het
Gcg	A	G	2: 62,475,725	I176T	possibly damaging	Het
Glis1	T	A	4: 107,568,082	S109T	probably benign	Het
Gm266	T	C	12: 111,485,739	D11G	probably benign	Het
Gm5070	C	A	3: 95,410,654		noncoding transcript	Het
Gm8444	T	C	15: 81,843,453		probably benign	Het
Gm8989	T	A	7: 106,330,223		noncoding transcript	Het
Golga4	A	G	9: 118,527,130	T117A	probably damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc2	T	A	7: 56,230,919	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,357,542	E202*	probably null	Het
Kcnu1	C	T	8: 25,849,714	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,677,465	D161G	probably damaging	Het
Krt84	T	A	15: 101,530,212	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,949,069	C199S	unknown	Het
Mrgprb3	A	G	7: 48,643,362	V147A	probably benign	Het
Ndufs6	A	T	13: 73,327,434	F48L	probably damaging	Het
Obscn	T	C	11: 59,079,650	S2586G	probably damaging	Het
Olfr148	A	G	9: 39,614,463	R299G	probably benign	Het
Olfr156	C	A	4: 43,820,912	V150L	probably benign	Het
Olfr559	C	T	7: 102,724,202	R96H	possibly damaging	Het
Pdilt	A	G	7: 119,500,543		probably benign	Het
Phf12	C	A	11: 78,022,426	D401E	probably benign	Het
Pla2r1	C	T	2: 60,428,721	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,480,406		probably benign	Het
Ptpn6	T	C	6: 124,724,984	H406R	probably benign	Het
Qpctl	G	T	7: 19,143,207	H329N	probably damaging	Het
Ripk3	T	A	14: 55,785,298	N390Y	probably damaging	Het
Rnase1	A	G	14: 51,145,450	V149A	probably benign	Het
Rtn3	T	A	19: 7,456,827	D581V	probably damaging	Het
Slamf1	A	G	1: 171,775,062	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,623,662	M12T	probably benign	Het
Tmem38a	A	G	8: 72,580,100	Y141C	probably damaging	Het
Tnr	C	T	1: 159,886,930	T793I	possibly damaging	Het
Tns3	T	C	11: 8,493,211	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,387,307	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het

Other mutations in Osbpl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Osbpl6	APN	2	76590439	missense	probably damaging	1.00
IGL01109:Osbpl6	APN	2	76549527	missense	probably damaging	1.00
IGL01288:Osbpl6	APN	2	76564823	missense	probably damaging	0.98
IGL01717:Osbpl6	APN	2	76588594	missense	probably damaging	1.00
IGL02146:Osbpl6	APN	2	76549750	missense	possibly damaging	0.90
IGL02597:Osbpl6	APN	2	76555974	nonsense	probably null
IGL02652:Osbpl6	APN	2	76593454	missense	probably damaging	1.00
IGL02867:Osbpl6	APN	2	76595870	splice site	probably benign
IGL03143:Osbpl6	APN	2	76548372	missense	probably damaging	1.00
3-1:Osbpl6	UTSW	2	76586151	missense	probably damaging	1.00
R0085:Osbpl6	UTSW	2	76593414	missense	probably benign	0.30
R0201:Osbpl6	UTSW	2	76546042	missense	possibly damaging	0.92
R0573:Osbpl6	UTSW	2	76590391	missense	probably damaging	1.00
R0644:Osbpl6	UTSW	2	76594840	missense	probably damaging	1.00
R0855:Osbpl6	UTSW	2	76585133	missense	probably damaging	1.00
R0855:Osbpl6	UTSW	2	76591839	missense	probably damaging	1.00
R1017:Osbpl6	UTSW	2	76549719	missense	probably damaging	1.00
R1459:Osbpl6	UTSW	2	76555065	missense	probably benign	0.01
R1505:Osbpl6	UTSW	2	76579242	missense	probably damaging	1.00
R1588:Osbpl6	UTSW	2	76579216	missense	probably benign
R1786:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R1863:Osbpl6	UTSW	2	76585058	missense	probably damaging	1.00
R2131:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2132:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2133:Osbpl6	UTSW	2	76586214	missense	probably damaging	1.00
R2233:Osbpl6	UTSW	2	76586769	missense	probably damaging	0.99
R2235:Osbpl6	UTSW	2	76586769	missense	probably damaging	0.99
R2256:Osbpl6	UTSW	2	76584474	missense	probably damaging	1.00
R2294:Osbpl6	UTSW	2	76577079	missense	possibly damaging	0.81
R3023:Osbpl6	UTSW	2	76586733	missense	probably damaging	1.00
R4192:Osbpl6	UTSW	2	76585229	missense	probably damaging	1.00
R4544:Osbpl6	UTSW	2	76584492	missense	possibly damaging	0.84
R4546:Osbpl6	UTSW	2	76584492	missense	possibly damaging	0.84
R4664:Osbpl6	UTSW	2	76568208	missense	probably benign	0.02
R4764:Osbpl6	UTSW	2	76546000	missense	probably damaging	1.00
R4884:Osbpl6	UTSW	2	76549539	missense	probably damaging	1.00
R5080:Osbpl6	UTSW	2	76524085	missense	probably benign	0.31
R5430:Osbpl6	UTSW	2	76586138	missense	probably damaging	1.00
R5614:Osbpl6	UTSW	2	76568109	missense	probably damaging	1.00
R5956:Osbpl6	UTSW	2	76549512	missense	probably damaging	1.00
R6394:Osbpl6	UTSW	2	76555954	missense	probably benign	0.00
R6430:Osbpl6	UTSW	2	76579276	missense	probably damaging	1.00
R6450:Osbpl6	UTSW	2	76564830	missense	possibly damaging	0.90
R7116:Osbpl6	UTSW	2	76595881	missense	probably benign	0.06
R7385:Osbpl6	UTSW	2	76549450	missense	probably damaging	1.00
R7422:Osbpl6	UTSW	2	76593386	missense	probably damaging	1.00
R7561:Osbpl6	UTSW	2	76586154	missense	probably damaging	1.00
R7829:Osbpl6	UTSW	2	76593387	missense	probably damaging	1.00
R7921:Osbpl6	UTSW	2	76585097	missense	probably damaging	1.00
R8183:Osbpl6	UTSW	2	76585060	missense	probably damaging	1.00
R8219:Osbpl6	UTSW	2	76555903	missense	probably damaging	0.98
R8548:Osbpl6	UTSW	2	76579222	missense	possibly damaging	0.88
R8682:Osbpl6	UTSW	2	76577081	missense	probably benign	0.00
R8935:Osbpl6	UTSW	2	76549456	missense	possibly damaging	0.60
R9157:Osbpl6	UTSW	2	76552124	missense	probably benign	0.00
R9303:Osbpl6	UTSW	2	76548372	missense	probably damaging	1.00
R9305:Osbpl6	UTSW	2	76548372	missense	probably damaging	1.00
R9526:Osbpl6	UTSW	2	76585259	missense	probably damaging	0.98
R9536:Osbpl6	UTSW	2	76586210	missense	probably benign	0.00
R9564:Osbpl6	UTSW	2	76595977	missense	probably damaging	1.00
R9571:Osbpl6	UTSW	2	76594847	missense	probably benign	0.03
R9585:Osbpl6	UTSW	2	76524094	missense	probably benign
R9771:Osbpl6	UTSW	2	76593427	missense	possibly damaging	0.89
R9790:Osbpl6	UTSW	2	76555017	missense	probably damaging	1.00
R9791:Osbpl6	UTSW	2	76555017	missense	probably damaging	1.00
Z1177:Osbpl6	UTSW	2	76540179	missense	probably benign	0.01
Z31818:Osbpl6	UTSW	2	76555082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCTGTAGAAGACACTCAGG -3'
(R):5'- GCCACCTGGATAGATTATGCAAAAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TATGCAAAAGAGAAGCTATGAATACC -3'

Posted On

2016-12-15