Mutagenetix > Incidental Mutations

Incidental Mutation 'R2233:Osbpl6'

240155

Institutional Source

Beutler Lab

Gene Symbol

Osbpl6

Ensembl Gene

ENSMUSG00000042359

Gene Name

oxysterol binding protein-like 6

Synonyms

1110062M20Rik, ORP-6

MMRRC Submission

040234-MU

Accession Numbers

Genbank: NM_145525; MGI: 2139014

Is this an essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R2233 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

76406508-76600647 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76586769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 577 (F577L)

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: F723L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077123
Gene: ENSMUSG00000042359
AA Change: F723L

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: F715L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107560
Gene: ENSMUSG00000042359
AA Change: F715L

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: F684L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107561
Gene: ENSMUSG00000042359
AA Change: F684L

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: F577L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139363
Gene: ENSMUSG00000042359
AA Change: F577L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably damaging	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
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
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'- AATTTAGATGCTCCATTGCCCC -3'
(R):5'- GGGCTCAGCATCTCATTTCC -3'

Sequencing Primer
(F):5'- TCAGGAGTTCAAGGCCCATCTTAG -3'
(R):5'- GACATCACAGTTTCATAGTGAAGTGG -3'

Posted On

2014-10-15