Mutagenetix > Incidental Mutations

Incidental Mutation 'R7076:Osbpl5'

549222

Institutional Source

Beutler Lab

Gene Symbol

Osbpl5

Ensembl Gene

ENSMUSG00000037606

Gene Name

oxysterol binding protein-like 5

Synonyms

Obph1, ORP5, 1110006M06Rik

MMRRC Submission

Accession Numbers

Genbank: NM_024289 ; MGI: 1930265

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143688762-143756985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143709840 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 102 (L102P)

Ref Sequence

ENSEMBL: ENSMUSP00000020411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020411] [ENSMUST00000119499] [ENSMUST00000134056]

Predicted Effect

probably benign
Transcript: ENSMUST00000020411
AA Change: L102P

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020411
Gene: ENSMUSG00000037606
AA Change: L102P

Domain	Start	End	E-Value	Type
PH	151	269	1.02e-14	SMART
Pfam:Oxysterol_BP	394	738	2.9e-91	PFAM
transmembrane domain	879	897	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119499
AA Change: L78P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113362
Gene: ENSMUSG00000037606
AA Change: L78P

Domain	Start	End	E-Value	Type
coiled coil region	92	122	N/A	INTRINSIC
PH	127	245	1.02e-14	SMART
Pfam:Oxysterol_BP	369	724	1e-93	PFAM
transmembrane domain	855	873	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115141
Gene: ENSMUSG00000037606
AA Change: L90P

Domain	Start	End	E-Value	Type
PDB:1V88\|A	122	187	7e-33	PDB
SCOP:d1fgya_	125	187	3e-10	SMART
Blast:PH	127	187	5e-38	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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 that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 55,871,659	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,742,406	T523A	probably damaging	Het
Arrdc3	A	T	13: 80,890,696	K259M	probably damaging	Het
Becn1	A	T	11: 101,295,324	N151K	probably benign	Het
Cars2	C	T	8: 11,529,649	E270K	probably damaging	Het
Ccp110	C	A	7: 118,732,405	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,939,829	I466T	probably benign	Het
Cd164	A	G	10: 41,523,197	E94G	probably benign	Het
Cdon	C	T	9: 35,504,150	T1228I	probably benign	Het
Cubn	C	A	2: 13,306,280	V3145L	probably benign	Het
Cubn	T	A	2: 13,306,281	K3144N	probably benign	Het
Dchs1	A	G	7: 105,761,871	V1649A	probably benign	Het
Dgka	A	T	10: 128,733,583	D153E	probably damaging	Het
Dip2b	A	G	15: 100,157,972		probably null	Het
Dnajc21	T	C	15: 10,449,631	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,300,471	I209F	probably damaging	Het
Ghdc	C	A	11: 100,769,714	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,821,275	C229R		Het
Gpm6a	C	T	8: 55,037,451	T54I	probably damaging	Het
Gpr171	G	T	3: 59,098,156	A66E	probably damaging	Het
Grm7	A	G	6: 111,358,152	D508G	probably benign	Het
Has1	G	A	17: 17,843,806	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighv3-8	A	T	12: 114,322,782	L7Q	probably damaging	Het
Ints10	A	T	8: 68,796,751	R78*	probably null	Het
Itpr1	A	G	6: 108,388,296	I903V	probably benign	Het
Lrp1	A	G	10: 127,550,183		probably null	Het
Mki67	A	G	7: 135,705,629	V132A	probably damaging	Het
Myh4	A	G	11: 67,253,173	E1123G	possibly damaging	Het
Neurog3	A	G	10: 62,133,580	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095		probably null	Het
Nr4a3	G	A	4: 48,055,957	V328I	probably damaging	Het
Olfr1489	G	T	19: 13,633,880	M256I	possibly damaging	Het
Olfr313	G	A	11: 58,817,164	R52Q	probably benign	Het
Olfr487	A	T	7: 108,211,998	V177D	probably damaging	Het
Olfr654	A	T	7: 104,588,223	S140C	probably damaging	Het
Olfr716	T	C	7: 107,148,029	F238L	probably damaging	Het
Olfr743	T	A	14: 50,533,821	Y136*	probably null	Het
Ppl	C	T	16: 5,100,119	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,876,597	M321T	possibly damaging	Het
Prex1	T	C	2: 166,633,382	Y197C	probably damaging	Het
Prss32	A	G	17: 23,853,921	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,721,576	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,956,884	S95P	probably damaging	Het
Srp14	T	C	2: 118,479,390	T29A	probably damaging	Het
Tet2	T	A	3: 133,467,023	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,583,574	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,287,421	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,428,735	D62G	probably benign	Het
Usp12	A	G	5: 146,737,752	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,558,476	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,017,896	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,606,939	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,375,156	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,769,751	H1104R	probably benign	Het
Znrf2	T	A	6: 54,842,695	*75K	probably null	Het
Zzef1	T	C	11: 72,899,559	V2113A	probably benign	Het

Other mutations in Osbpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Osbpl5	APN	7	143715693	nonsense	probably null
IGL01996:Osbpl5	APN	7	143707344	critical splice donor site	probably null
IGL02135:Osbpl5	APN	7	143705125	missense	probably damaging	1.00
IGL02331:Osbpl5	APN	7	143709795	missense	probably benign	0.22
IGL02993:Osbpl5	APN	7	143699334	critical splice acceptor site	probably null
R0240:Osbpl5	UTSW	7	143741669	splice site	probably null
R0601:Osbpl5	UTSW	7	143709549	missense	probably damaging	0.98
R0609:Osbpl5	UTSW	7	143694821	missense	probably damaging	0.99
R0659:Osbpl5	UTSW	7	143705030	missense	probably damaging	0.97
R1532:Osbpl5	UTSW	7	143695080	missense	probably benign
R1579:Osbpl5	UTSW	7	143709202	missense	possibly damaging	0.93
R1595:Osbpl5	UTSW	7	143703218	missense	possibly damaging	0.88
R1666:Osbpl5	UTSW	7	143709039	missense	probably damaging	1.00
R1668:Osbpl5	UTSW	7	143709039	missense	probably damaging	1.00
R1713:Osbpl5	UTSW	7	143694373	missense	probably damaging	1.00
R1868:Osbpl5	UTSW	7	143715773	missense	probably damaging	1.00
R1901:Osbpl5	UTSW	7	143703181	missense	possibly damaging	0.83
R1902:Osbpl5	UTSW	7	143703181	missense	possibly damaging	0.83
R1903:Osbpl5	UTSW	7	143703181	missense	possibly damaging	0.83
R1911:Osbpl5	UTSW	7	143689925	missense	probably benign	0.00
R1982:Osbpl5	UTSW	7	143741671	critical splice donor site	probably null
R2014:Osbpl5	UTSW	7	143741692	missense	probably damaging	0.98
R2076:Osbpl5	UTSW	7	143709144	missense	probably damaging	1.00
R2192:Osbpl5	UTSW	7	143693859	nonsense	probably null
R2256:Osbpl5	UTSW	7	143709094	missense	probably damaging	1.00
R4271:Osbpl5	UTSW	7	143695602	nonsense	probably null
R4418:Osbpl5	UTSW	7	143709815	nonsense	probably null
R4450:Osbpl5	UTSW	7	143694906	missense	probably benign	0.00
R4573:Osbpl5	UTSW	7	143694316	missense	probably benign	0.00
R5325:Osbpl5	UTSW	7	143691928	missense	probably damaging	0.99
R5439:Osbpl5	UTSW	7	143741696	missense	possibly damaging	0.83
R5617:Osbpl5	UTSW	7	143692947	missense	possibly damaging	0.89
R5775:Osbpl5	UTSW	7	143704529	missense	probably benign	0.00
R5935:Osbpl5	UTSW	7	143756958	start gained	probably benign
R6906:Osbpl5	UTSW	7	143694328	missense	probably damaging	0.99
R7117:Osbpl5	UTSW	7	143709783	missense	probably benign	0.01
R7292:Osbpl5	UTSW	7	143701278	missense	probably damaging	1.00
R7555:Osbpl5	UTSW	7	143694933	missense	possibly damaging	0.65
R7594:Osbpl5	UTSW	7	143693797	missense	probably benign	0.02
R8028:Osbpl5	UTSW	7	143715735	missense	probably benign	0.00
R8061:Osbpl5	UTSW	7	143702724	missense	probably benign	0.03
R8314:Osbpl5	UTSW	7	143695096	missense	probably benign	0.05
R8482:Osbpl5	UTSW	7	143704994	missense	probably benign	0.12
YA93:Osbpl5	UTSW	7	143693870	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCATGGAGTGCATGGACTG -3'
(R):5'- TAGGAACTTGACACTACCATGTCC -3'

Sequencing Primer
(F):5'- ATGGACTGCCCCAGCTC -3'
(R):5'- TCATAGTTCAGGGGCACAGTC -3'

Posted On

2019-05-15