Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Osbpl7'

207669

Institutional Source

Beutler Lab

Gene Symbol

Osbpl7

Ensembl Gene

ENSMUSG00000038534

Gene Name

oxysterol binding protein-like 7

Synonyms

MMRRC Submission

039870-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97050628-97068904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97059128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 378 (S378R)

Ref Sequence

ENSEMBL: ENSMUSP00000126902 (fasta)

Gene Model

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

AlphaFold

A2A716

Predicted Effect

probably damaging
Transcript: ENSMUST00000090020
AA Change: S550R

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

SMART Domains

Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: S550R

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: S378R

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

SMART Domains

Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: S378R

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663		probably benign	Het
Abca17	A	T	17: 24,267,716	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448		probably null	Het
Cela1	T	C	15: 100,685,167	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035		probably null	Het
Foxp4	T	A	17: 47,877,959	T321S	probably null	Het
Fut10	A	G	8: 31,236,300	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436	A614V	probably benign	Het
Lck	T	A	4: 129,558,086	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157		probably null	Het
Myh6	T	C	14: 54,944,674	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486	Y287F	possibly damaging	Het
Otof	A	T	5: 30,371,723	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611	L15Q	probably damaging	Het
Ptpn14	C	A	1: 189,839,502	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622		probably benign	Het
Spsb1	A	T	4: 149,906,910	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741	Y974H	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
R0848:Osbpl7	UTSW	11	97060524	missense	probably damaging	1.00
R0919:Osbpl7	UTSW	11	97056101	missense	possibly damaging	0.92
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'- TGTCTCGCCAATTTCCCAGG -3'
(R):5'- TCGGTACCCAAAGCCAATAG -3'

Sequencing Primer
(F):5'- CAGGCTCTTTGCTATAAGTCGGTAC -3'
(R):5'- GTACCCAAAGCCAATAGCCCAC -3'

Posted On

2014-06-23