Mutagenetix > Incidental Mutation

Incidental Mutation 'R9790:Osbpl6'

735854

Institutional Source

Beutler Lab

Gene Symbol

Osbpl6

Ensembl Gene

ENSMUSG00000042359

Gene Name

oxysterol binding protein-like 6

Synonyms

1110062M20Rik, ORP-6

MMRRC Submission

Accession Numbers

Genbank: NM_145525; MGI: 2139014

Essential gene?

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

Stock #

R9790 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76406508-76600647 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76555017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 265 (L265R)

Ref Sequence

ENSEMBL: ENSMUSP00000077123 (fasta)

Gene Model

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

AlphaFold

Q8BXR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000077972
AA Change: L265R

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

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: L265R

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 damaging
Transcript: ENSMUST00000111929
AA Change: L265R

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

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: L265R

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 damaging
Transcript: ENSMUST00000111930
AA Change: L265R

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

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: L265R

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

probably damaging
Transcript: ENSMUST00000184442
AA Change: L152R

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

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: L152R

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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. 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	T	A	11: 97,775,768	I31F	probably benign	Het
Abcb1a	T	C	5: 8,698,604	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,322,259	I549N	probably damaging	Het
Agpat2	A	G	2: 26,596,383	Y134H	probably damaging	Het
Alms1	A	G	6: 85,619,443	D417G	probably benign	Het
Apol11b	T	A	15: 77,635,275	I202F	probably benign	Het
Arap1	C	A	7: 101,388,169	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,793,364		probably null	Het
Asap3	A	T	4: 136,234,603	N285I	probably damaging	Het
Aspm	A	T	1: 139,480,637	I2421F	probably damaging	Het
Banp	C	A	8: 121,974,546	D17E	probably benign	Het
Bsx	T	G	9: 40,877,609	V154G	probably damaging	Het
Cacnb1	T	C	11: 98,009,360	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,533,957		probably null	Het
Ccdc187	T	C	2: 26,281,215	H417R	probably benign	Het
Cct4	T	A	11: 22,999,070	M272K	probably damaging	Het
Chd9	A	G	8: 91,033,789	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,028	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,251,183	M368K	probably damaging	Het
Dhx32	A	G	7: 133,724,538	F527L	probably benign	Het
Foxk1	T	C	5: 142,401,984	V154A	probably damaging	Het
Frem3	G	A	8: 80,613,261	E728K	probably benign	Het
Garem2	C	A	5: 30,114,749	A403E	probably benign	Het
Gemin5	G	A	11: 58,130,020	Q1114*	probably null	Het
Gm11567	C	T	11: 99,879,448	R71C	unknown	Het
Gm13272	T	C	4: 88,780,205	V119A	probably benign	Het
Gpc6	T	A	14: 116,926,023	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,615,299	F785V	probably damaging	Het
Hormad1	T	C	3: 95,587,382	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,191,840		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il17ra	C	T	6: 120,482,279	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,842,612	S80P	probably benign	Het
Klhdc2	T	A	12: 69,300,221	N53K	probably benign	Het
Klhl30	C	T	1: 91,354,367	P230L	probably benign	Het
March1	C	A	8: 66,276,687	A46E	probably benign	Het
Mast4	T	C	13: 102,754,197	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,530,752	V53A	probably benign	Het
Myh11	T	A	16: 14,208,128	E1326V		Het
Myh3	A	G	11: 67,101,179	E1850G	probably damaging	Het
Myo16	A	G	8: 10,569,925	D1492G	unknown	Het
Myo3b	C	A	2: 70,349,943	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,562,148	Q1379L	probably null	Het
Olfr1500	A	G	19: 13,827,550	I282T	probably benign	Het
Olfr948	C	T	9: 39,319,519	V32I	probably benign	Het
Pld4	A	G	12: 112,768,428	T440A	probably damaging	Het
Prr14	T	C	7: 127,471,956	M1T	probably null	Het
Ptger4	A	T	15: 5,243,697	M1K	probably null	Het
Ptpn22	A	T	3: 103,888,526	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,968,023	W170R	probably damaging	Het
Specc1l	A	G	10: 75,230,769	I17M	probably benign	Het
Sptbn4	C	G	7: 27,372,237	G1601R	probably damaging	Het
Sqor	C	T	2: 122,784,992	P11L	probably benign	Het
Stac2	T	C	11: 98,043,623	D85G	probably benign	Het
Svs2	G	A	2: 164,236,998	Q330*	probably null	Het
Taar7e	A	G	10: 24,037,656	I15V	probably benign	Het
Tcf4	A	T	18: 69,636,936	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,888,839	N1873S	probably damaging	Het
Tert	T	A	13: 73,627,529	V133D	probably benign	Het
Tfap2a	T	A	13: 40,717,182	N410I	probably damaging	Het
Tjp3	A	T	10: 81,273,860	D836E	probably benign	Het
Tox3	A	T	8: 90,248,578	M475K	unknown	Het
Traf4	A	T	11: 78,160,153	D392E	probably damaging	Het
Vav2	A	G	2: 27,291,813	L338P	probably damaging	Het
Vmn1r81	T	C	7: 12,260,186	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,847,543	V413E	probably damaging	Het
Wdr7	A	T	18: 63,777,988	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,688,647	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,399,862	H1718Q	probably damaging	Het
Zfp945	G	A	17: 22,852,254	H245Y	probably benign	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
R5807:Osbpl6	UTSW	2	76584513	missense	probably damaging	0.98
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
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'- ACCATCTCATTGCCAGCAG -3'
(R):5'- TGAGCCTGTGAATAGTAACTTCCC -3'

Sequencing Primer
(F):5'- AGCAGCGCCCATGATTCAG -3'
(R):5'- GAGTGTCTCCTTGCATCTTCATAGG -3'

Posted On

2022-11-14