Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Osbpl8'

213827

Institutional Source

Beutler Lab

Gene Symbol

Osbpl8

Ensembl Gene

ENSMUSG00000020189

Gene Name

oxysterol binding protein-like 8

Synonyms

ORP-8, D330025H14Rik

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111000663-111133110 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111125672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 784 (H784L)

Ref Sequence

ENSEMBL: ENSMUSP00000100911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095310] [ENSMUST00000105275]

AlphaFold

B9EJ86

Predicted Effect

probably benign
Transcript: ENSMUST00000095310
AA Change: H742L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: H742L

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
coiled coil region	71	102	N/A	INTRINSIC
PH	107	225	3.65e-16	SMART
Pfam:Oxysterol_BP	364	715	6.4e-91	PFAM
coiled coil region	789	811	N/A	INTRINSIC
transmembrane domain	829	846	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105275
AA Change: H784L

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: H784L

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
coiled coil region	113	144	N/A	INTRINSIC
PH	149	267	3.65e-16	SMART
Pfam:Oxysterol_BP	406	752	4.6e-91	PFAM
coiled coil region	831	853	N/A	INTRINSIC
transmembrane domain	871	888	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: 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 different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,130 (GRCm39)	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,207,186 (GRCm39)		probably null	Het
4933409G03Rik	T	C	2: 68,419,328 (GRCm39)	S26P	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acot3	A	G	12: 84,105,325 (GRCm39)	N264S	probably benign	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam22	A	T	5: 8,380,015 (GRCm39)	F94L	probably damaging	Het
Adarb2	T	C	13: 8,253,358 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,802,755 (GRCm39)	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,361,220 (GRCm39)	C785*	probably null	Het
Birc6	T	C	17: 74,977,332 (GRCm39)	S4362P	probably damaging	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,895,073 (GRCm39)	H115R	probably benign	Het
Col23a1	A	G	11: 51,442,816 (GRCm39)	D159G	unknown	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Dnase2a	G	T	8: 85,637,524 (GRCm39)	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Engase	T	A	11: 118,370,012 (GRCm39)	N97K	probably damaging	Het
Fam83b	A	T	9: 76,400,362 (GRCm39)	M247K	probably damaging	Het
Fer	T	C	17: 64,280,123 (GRCm39)	S65P	probably damaging	Het
Fgf10	A	G	13: 118,925,688 (GRCm39)	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm904	T	C	13: 50,798,772 (GRCm39)		probably null	Het
Gpat2	T	A	2: 127,277,879 (GRCm39)	*802K	probably null	Het
Hcfc2	G	T	10: 82,538,284 (GRCm39)	R107L	probably damaging	Het
Itga8	T	G	2: 12,305,657 (GRCm39)	D111A	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lgals8	T	G	13: 12,474,069 (GRCm39)	I10L	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Mcpt1	A	T	14: 56,256,546 (GRCm39)	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,322,920 (GRCm39)	F384S	probably damaging	Het
Mrgprb5	A	T	7: 47,818,686 (GRCm39)	N16K	probably benign	Het
Myo15b	A	G	11: 115,778,529 (GRCm39)	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,794,801 (GRCm39)	I53R	possibly damaging	Het
Nav1	A	T	1: 135,393,636 (GRCm39)	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,459,379 (GRCm39)	Y54C	probably damaging	Het
Or10j3b	G	T	1: 173,043,499 (GRCm39)	A94S	probably benign	Het
Or5p58	A	G	7: 107,694,348 (GRCm39)	V143A	probably benign	Het
Or6c217	A	C	10: 129,737,970 (GRCm39)	M203R	probably damaging	Het
Or8b35	A	G	9: 37,904,385 (GRCm39)	N199S	probably benign	Het
Or8c15	T	A	9: 38,120,725 (GRCm39)	Y72*	probably null	Het
Osr1	T	G	12: 9,629,687 (GRCm39)	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,772,921 (GRCm39)	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,889,927 (GRCm39)	T400A	probably damaging	Het
Pms1	A	C	1: 53,236,135 (GRCm39)	L715R	probably damaging	Het
Prkd1	T	C	12: 50,441,777 (GRCm39)	N254S	probably benign	Het
Prkdc	T	C	16: 15,653,777 (GRCm39)	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,769,560 (GRCm39)	N435S	probably benign	Het
Purb	T	C	11: 6,424,943 (GRCm39)	E315G	unknown	Het
Rap1b	A	T	10: 117,654,491 (GRCm39)	N116K	probably damaging	Het
Rmc1	T	C	18: 12,313,562 (GRCm39)	L15P	probably damaging	Het
Rp1l1	A	G	14: 64,267,042 (GRCm39)	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,816,834 (GRCm39)	I114F	probably damaging	Het
Semp2l1	T	C	1: 32,584,627 (GRCm39)	I428V	probably damaging	Het
Sh3bp2	A	G	5: 34,708,963 (GRCm39)	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,208,317 (GRCm39)	M276V	probably benign	Het
Slc17a1	A	G	13: 24,059,864 (GRCm39)	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581 (GRCm38)	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,078,956 (GRCm39)	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St3gal6	A	T	16: 58,293,924 (GRCm39)		probably null	Het
Tdp2	A	G	13: 25,025,260 (GRCm39)	D343G	probably benign	Het
Tecpr2	T	A	12: 110,899,603 (GRCm39)	L657Q	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,248,426 (GRCm39)	F28I	probably damaging	Het
Trim32	G	A	4: 65,532,303 (GRCm39)	V287I	probably benign	Het
Trpd52l3	T	C	19: 29,981,289 (GRCm39)	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 106,566,670 (GRCm39)	I169V	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,830,765 (GRCm39)	Q18L	probably null	Het
Ttll8	A	T	15: 88,799,689 (GRCm39)	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ucp3	T	C	7: 100,129,871 (GRCm39)	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,453,532 (GRCm39)	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,339,852 (GRCm39)	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,305,976 (GRCm39)	D393G	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp976	C	A	7: 42,263,105 (GRCm39)	C244F	unknown	Het
Zmym5	A	G	14: 57,036,577 (GRCm39)	V190A	probably damaging	Het

Other mutations in Osbpl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Osbpl8	APN	10	111,108,905 (GRCm39)	missense	probably benign	0.30
IGL00826:Osbpl8	APN	10	111,108,181 (GRCm39)	splice site	probably benign
IGL00839:Osbpl8	APN	10	111,127,371 (GRCm39)	missense	probably benign	0.01
IGL01148:Osbpl8	APN	10	111,112,424 (GRCm39)	splice site	probably benign
IGL01338:Osbpl8	APN	10	111,103,608 (GRCm39)	missense	probably damaging	0.99
IGL01927:Osbpl8	APN	10	111,106,477 (GRCm39)	missense	probably benign	0.00
IGL02378:Osbpl8	APN	10	111,118,006 (GRCm39)	missense	possibly damaging	0.94
IGL02863:Osbpl8	APN	10	111,120,286 (GRCm39)	splice site	probably benign
IGL02933:Osbpl8	APN	10	111,117,991 (GRCm39)	missense	probably damaging	1.00
IGL03075:Osbpl8	APN	10	111,127,417 (GRCm39)	missense	probably benign	0.01
R0388:Osbpl8	UTSW	10	111,108,143 (GRCm39)	missense	probably benign
R0725:Osbpl8	UTSW	10	111,122,101 (GRCm39)	missense	possibly damaging	0.64
R1353:Osbpl8	UTSW	10	111,112,340 (GRCm39)	missense	probably damaging	0.97
R1434:Osbpl8	UTSW	10	111,127,442 (GRCm39)	missense	probably benign	0.01
R1803:Osbpl8	UTSW	10	111,110,910 (GRCm39)	missense	probably damaging	1.00
R2847:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2848:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2849:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2879:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R2935:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R3693:Osbpl8	UTSW	10	111,105,297 (GRCm39)	missense	probably benign	0.27
R4088:Osbpl8	UTSW	10	111,125,651 (GRCm39)	missense	possibly damaging	0.52
R4374:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4376:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4377:Osbpl8	UTSW	10	111,105,280 (GRCm39)	missense	possibly damaging	0.93
R4621:Osbpl8	UTSW	10	111,105,279 (GRCm39)	missense	probably benign	0.01
R4622:Osbpl8	UTSW	10	111,127,357 (GRCm39)	missense	probably benign	0.00
R4851:Osbpl8	UTSW	10	111,040,661 (GRCm39)	start codon destroyed	probably null	0.00
R5134:Osbpl8	UTSW	10	111,124,554 (GRCm39)	missense	probably benign	0.28
R5179:Osbpl8	UTSW	10	111,108,025 (GRCm39)	missense	probably benign	0.01
R5309:Osbpl8	UTSW	10	111,106,418 (GRCm39)	missense	probably benign	0.00
R5590:Osbpl8	UTSW	10	111,108,029 (GRCm39)	missense	probably damaging	0.98
R5783:Osbpl8	UTSW	10	111,103,644 (GRCm39)	nonsense	probably null
R6293:Osbpl8	UTSW	10	111,108,099 (GRCm39)	missense	possibly damaging	0.96
R6362:Osbpl8	UTSW	10	111,108,929 (GRCm39)	nonsense	probably null
R6527:Osbpl8	UTSW	10	111,129,066 (GRCm39)	missense	probably benign	0.23
R6751:Osbpl8	UTSW	10	111,110,874 (GRCm39)	missense	possibly damaging	0.67
R6851:Osbpl8	UTSW	10	111,106,479 (GRCm39)	nonsense	probably null
R6955:Osbpl8	UTSW	10	111,105,305 (GRCm39)	critical splice donor site	probably null
R7224:Osbpl8	UTSW	10	111,110,872 (GRCm39)	missense	possibly damaging	0.94
R7235:Osbpl8	UTSW	10	111,105,288 (GRCm39)	missense	probably benign
R7685:Osbpl8	UTSW	10	111,112,370 (GRCm39)	nonsense	probably null
R7988:Osbpl8	UTSW	10	111,107,941 (GRCm39)	missense	possibly damaging	0.67
R8055:Osbpl8	UTSW	10	111,120,255 (GRCm39)	missense	possibly damaging	0.68
R8458:Osbpl8	UTSW	10	111,113,177 (GRCm39)	missense	possibly damaging	0.81
R8777:Osbpl8	UTSW	10	111,128,974 (GRCm39)	missense	probably benign	0.01
R8777-TAIL:Osbpl8	UTSW	10	111,128,974 (GRCm39)	missense	probably benign	0.01
R8844:Osbpl8	UTSW	10	111,112,336 (GRCm39)	missense	probably damaging	1.00
R8948:Osbpl8	UTSW	10	111,103,530 (GRCm39)	missense	probably damaging	0.97
R8954:Osbpl8	UTSW	10	111,108,053 (GRCm39)	missense	probably benign	0.02
R8997:Osbpl8	UTSW	10	111,091,575 (GRCm39)	missense	probably benign	0.01
R9236:Osbpl8	UTSW	10	111,106,496 (GRCm39)	missense	probably benign	0.01
R9249:Osbpl8	UTSW	10	111,122,012 (GRCm39)	missense	probably benign	0.02
R9380:Osbpl8	UTSW	10	111,108,980 (GRCm39)	missense	probably damaging	0.99
R9394:Osbpl8	UTSW	10	111,127,375 (GRCm39)	nonsense	probably null
R9595:Osbpl8	UTSW	10	111,108,909 (GRCm39)	missense	probably damaging	0.99
RF007:Osbpl8	UTSW	10	111,112,328 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AACTCAGCTAGGAGGGTTGC -3'
(R):5'- AGTATTCACGCCCACTCACTG -3'

Sequencing Primer
(F):5'- AGGGTTGCTTGCTGAATGC -3'
(R):5'- TTGTACATCCTCGAGTTACATATACC -3'

Posted On

2014-07-14