Mutagenetix > Incidental Mutations

Incidental Mutation 'R0848:Osbpl7'

77441

Institutional Source

Beutler Lab

Gene Symbol

Osbpl7

Ensembl Gene

ENSMUSG00000038534

Gene Name

oxysterol binding protein-like 7

Synonyms

MMRRC Submission

039027-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R0848 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

97050628-97068904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97060524 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 507 (P507Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090020] [ENSMUST00000168565]

Predicted Effect

probably damaging
Transcript: ENSMUST00000090020
AA Change: P679Q

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

SMART Domains

Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: P679Q

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
low complexity region	138	154	N/A	INTRINSIC
PH	174	270	7.76e-11	SMART
low complexity region	533	551	N/A	INTRINSIC
Pfam:Oxysterol_BP	599	947	4.6e-135	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142406

Predicted Effect

probably damaging
Transcript: ENSMUST00000168565
AA Change: P507Q

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

SMART Domains

Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: P507Q

Domain	Start	End	E-Value	Type
PH	3	99	7.76e-11	SMART
Pfam:Oxysterol_BP	427	776	8.8e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183945

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,549,954	C696S	probably benign	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Pcdhb1	G	A	18: 37,267,422	G809S	probably benign	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Serpinb6c	A	T	13: 33,899,305	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim34a	C	T	7: 104,261,124	R378C	probably benign	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	probably damaging	Het

Other mutations in Osbpl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Osbpl7	APN	11	97052300	missense	probably benign	0.00
IGL02041:Osbpl7	APN	11	97060508	missense	probably benign	0.08
IGL02322:Osbpl7	APN	11	97056124	missense	probably benign	0.18
IGL02396:Osbpl7	APN	11	97055551	missense	probably damaging	1.00
IGL02441:Osbpl7	APN	11	97067702	missense	probably damaging	1.00
IGL02668:Osbpl7	APN	11	97067205	missense	possibly damaging	0.90
IGL03003:Osbpl7	APN	11	97050695	missense	probably benign
R0377:Osbpl7	UTSW	11	97055934	missense	probably damaging	0.99
R0549:Osbpl7	UTSW	11	97067542	missense	probably damaging	1.00
R0919:Osbpl7	UTSW	11	97056101	missense	possibly damaging	0.92
R1845:Osbpl7	UTSW	11	97059128	missense	probably damaging	1.00
R2119:Osbpl7	UTSW	11	97056079	missense	probably benign	0.02
R2418:Osbpl7	UTSW	11	97059178	missense	probably benign	0.00
R2571:Osbpl7	UTSW	11	97054841	missense	probably damaging	1.00
R3746:Osbpl7	UTSW	11	97056053	missense	probably damaging	1.00
R3747:Osbpl7	UTSW	11	97056053	missense	probably damaging	1.00
R3749:Osbpl7	UTSW	11	97056053	missense	probably damaging	1.00
R4590:Osbpl7	UTSW	11	97056272	missense	probably damaging	1.00
R4602:Osbpl7	UTSW	11	97056269	missense	possibly damaging	0.77
R4857:Osbpl7	UTSW	11	97056669	intron	probably benign
R4898:Osbpl7	UTSW	11	97060150	missense	probably damaging	0.98
R5160:Osbpl7	UTSW	11	97054556	missense	probably damaging	1.00
R5292:Osbpl7	UTSW	11	97067953	missense	probably benign	0.07
R5685:Osbpl7	UTSW	11	97060277	missense	probably damaging	1.00
R5786:Osbpl7	UTSW	11	97065832	missense	probably damaging	1.00
R6030:Osbpl7	UTSW	11	97052261	missense	probably benign	0.15
R6030:Osbpl7	UTSW	11	97052261	missense	probably benign	0.15
R6038:Osbpl7	UTSW	11	97050716	missense	probably benign
R6038:Osbpl7	UTSW	11	97050716	missense	probably benign
R6239:Osbpl7	UTSW	11	97052824	critical splice donor site	probably null
R6715:Osbpl7	UTSW	11	97054599	missense	probably damaging	1.00
R6920:Osbpl7	UTSW	11	97050758	missense	probably damaging	0.99
R7179:Osbpl7	UTSW	11	97050836	missense	probably benign	0.05
R7222:Osbpl7	UTSW	11	97060538	missense	probably damaging	1.00
R7413:Osbpl7	UTSW	11	97054878	critical splice donor site	probably null
R7773:Osbpl7	UTSW	11	97050722	missense	probably benign
R7806:Osbpl7	UTSW	11	97056128	missense	probably benign	0.01
R7884:Osbpl7	UTSW	11	97060457	missense	possibly damaging	0.72
R8169:Osbpl7	UTSW	11	97054850	missense	probably damaging	1.00
R8289:Osbpl7	UTSW	11	97056579	missense	probably benign	0.08
R8341:Osbpl7	UTSW	11	97060163	missense	probably damaging	1.00
R8735:Osbpl7	UTSW	11	97052368	missense	probably benign
R8738:Osbpl7	UTSW	11	97056077	missense	possibly damaging	0.66
X0020:Osbpl7	UTSW	11	97056559	missense	probably benign	0.01
X0060:Osbpl7	UTSW	11	97060510	nonsense	probably null
X0062:Osbpl7	UTSW	11	97065643	missense	probably damaging	0.98
Z1176:Osbpl7	UTSW	11	97060153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGACTTTGTTTGTGACAGGCTGC -3'
(R):5'- TGTTGCACACCAGTGCCTGAATG -3'

Sequencing Primer
(F):5'- TGTGACAGGCTGCTGTCC -3'
(R):5'- GACTTCTGTCTCCCATAAGAAGAG -3'

Posted On

2013-10-16