Mutagenetix > Incidental Mutation

Incidental Mutation 'R1931:Osbp2'

215379

Institutional Source

Beutler Lab

Gene Symbol

Osbp2

Ensembl Gene

ENSMUSG00000020435

Gene Name

oxysterol binding protein 2

Synonyms

OSBPL1, 1700095P05Rik, C630001G20Rik, ORP-4

MMRRC Submission

039949-MU

Accession Numbers

Genbank: NM_152818; MGI: 1921559

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3703731-3863903 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 3726333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070552] [ENSMUST00000101632] [ENSMUST00000102950] [ENSMUST00000127371] [ENSMUST00000155197]

AlphaFold

Q5QNQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070552
AA Change: N363D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: N363D

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
PH	180	273	1.12e-16	SMART
low complexity region	281	311	N/A	INTRINSIC
Blast:PH	312	394	1e-32	BLAST
low complexity region	424	437	N/A	INTRINSIC
Pfam:Oxysterol_BP	519	894	3.5e-142	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101632

SMART Domains

Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Oxysterol_BP	108	484	2.1e-132	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102950

SMART Domains

Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435

Domain	Start	End	E-Value	Type
Pfam:Oxysterol_BP	66	442	2.8e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127371
AA Change: N106D

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116361
Gene: ENSMUSG00000020435
AA Change: N106D

Domain	Start	End	E-Value	Type
low complexity region	24	39	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
Blast:PH	55	137	8e-37	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135250

Predicted Effect

probably benign
Transcript: ENSMUST00000155197

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the oxysterol-binding protein-related family of proteins, which are defined by a C-terminal sterol domain with a highly conserved EQVSHHPP motif. Oxysterols are oxygenated derivatives of cholesterol that are involved in mechanisms that include apoptosis, cholesterol homeostasis, lipid trafficking and cell differentiation. This protein is selectively expressed at high levels in the brain and testis. Within the testis, the mRNA is localized to postmeiotic germ cells, including spermatids and spermatozoa, but is not detectable in somatic cells. Mice homozygous mutant for a targeted deletion in this gene do not exhibit overt developmental phenotypes but are male sterile. Females display normal fertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with sperm defects including oligozoospermia, teratozoospermia, asthenozoospermia and abnormal spermiogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
Aak1	T	G	6: 86,956,336	S430A	unknown	Het
Abhd16a	T	A	17: 35,101,015	F337L	probably benign	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,599	Q647K	probably benign	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,342,411	E961G	possibly damaging	Het
AU022751	T	C	X: 6,082,763	E66G	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bcl9	T	C	3: 97,205,144	M1332V	probably damaging	Het
Birc6	T	C	17: 74,565,982	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Coro2a	A	T	4: 46,539,138	*544R	probably null	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,133,252	N278D	probably benign	Het
Dgkh	T	C	14: 78,616,505	I265V	probably damaging	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Dpp3	A	T	19: 4,917,860		probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Eif4b	T	C	15: 102,088,976	S309P	unknown	Het
Eml3	G	A	19: 8,937,143	V507M	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,907	I309L	probably damaging	Het
Fsip2	T	A	2: 82,986,733	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Gfm1	A	G	3: 67,456,585	K465E	probably benign	Het
Gpld1	A	T	13: 24,943,710	I32L	possibly damaging	Het
Hist1h4k	A	T	13: 21,750,512		probably null	Het
Hoxd12	A	G	2: 74,675,513	T143A	probably benign	Het
Hoxd12	A	G	2: 74,675,531	T149A	probably benign	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,541,222	N287I	probably damaging	Het
Itga4	G	A	2: 79,313,844		probably null	Het
Itpr2	A	G	6: 146,240,354	V1730A	probably benign	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Lcn10	A	G	2: 25,684,335	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nckap5l	A	G	15: 99,427,261	F454L	probably damaging	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfm1	G	A	2: 28,222,662		probably null	Het
Olfr520	G	T	7: 99,735,860	R239L	possibly damaging	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Olfr849	T	C	9: 19,441,351	L146P	possibly damaging	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Papss2	T	A	19: 32,638,968	C191*	probably null	Het
Pbxip1	A	T	3: 89,447,677		probably null	Het
Pdp1	A	G	4: 11,962,074	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612	T452A	probably benign	Het
Polr2a	A	T	11: 69,735,375	Y1612N	unknown	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Prr11	A	T	11: 87,106,042	L32*	probably null	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Rps6kb1	A	G	11: 86,532,821	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,093,933	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
St8sia6	A	G	2: 13,792,812	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698	R470*	probably null	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Togaram1	A	G	12: 64,966,935	Y320C	probably damaging	Het
Trim41	A	G	11: 48,807,492	V549A	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Unc5b	T	C	10: 60,772,569	T621A	probably benign	Het
Vmn1r214	C	A	13: 23,035,324	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,553,810	K428*	probably null	Het
Vmn2r81	A	C	10: 79,293,494	I740L	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp735	A	T	11: 73,711,851	K540N	possibly damaging	Het

Other mutations in Osbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Osbp2	APN	11	3711848	missense	probably benign	0.02
IGL00231:Osbp2	APN	11	3726561	missense	possibly damaging	0.79
IGL01023:Osbp2	APN	11	3863387	missense	probably benign
IGL01819:Osbp2	APN	11	3717127	missense	probably damaging	1.00
IGL01931:Osbp2	APN	11	3705388	critical splice donor site	probably null
IGL01933:Osbp2	APN	11	3712016	missense	probably damaging	1.00
IGL02166:Osbp2	APN	11	3717983	missense	probably damaging	1.00
IGL02751:Osbp2	APN	11	3863434	missense	probably benign	0.20
IGL02812:Osbp2	APN	11	3714637	missense	probably benign	0.00
IGL03289:Osbp2	APN	11	3863380	missense	probably benign
3-1:Osbp2	UTSW	11	3863470	missense	probably benign	0.11
R0035:Osbp2	UTSW	11	3717997	splice site	probably benign
R0109:Osbp2	UTSW	11	3711791	missense	probably benign	0.00
R0414:Osbp2	UTSW	11	3819932	missense	probably damaging	1.00
R0491:Osbp2	UTSW	11	3714709	missense	probably damaging	1.00
R0791:Osbp2	UTSW	11	3711882	splice site	probably benign
R1473:Osbp2	UTSW	11	3717175	splice site	probably null
R1630:Osbp2	UTSW	11	3717167	missense	probably benign	0.15
R2697:Osbp2	UTSW	11	3863407	missense	probably benign	0.00
R3799:Osbp2	UTSW	11	3717883	missense	probably damaging	1.00
R4700:Osbp2	UTSW	11	3712160	missense	probably damaging	1.00
R4718:Osbp2	UTSW	11	3711793	missense	probably damaging	0.98
R4788:Osbp2	UTSW	11	3863320	missense	probably benign	0.44
R5381:Osbp2	UTSW	11	3705593	missense	probably benign	0.12
R5615:Osbp2	UTSW	11	3863356	missense	probably benign	0.00
R5681:Osbp2	UTSW	11	3863486	missense	probably benign
R6171:Osbp2	UTSW	11	3717221	splice site	probably null
R6329:Osbp2	UTSW	11	3715153	missense	probably damaging	1.00
R6861:Osbp2	UTSW	11	3715191	missense	possibly damaging	0.68
R6987:Osbp2	UTSW	11	3717958	missense	probably damaging	0.99
R7205:Osbp2	UTSW	11	3712134	missense	probably damaging	1.00
R7316:Osbp2	UTSW	11	3726431	missense	probably damaging	1.00
R7540:Osbp2	UTSW	11	3717944	missense	probably damaging	0.99
R7559:Osbp2	UTSW	11	3712493	missense	probably damaging	1.00
R7830:Osbp2	UTSW	11	3863414	missense	probably benign
R8085:Osbp2	UTSW	11	3712521	missense	probably damaging	1.00
R9044:Osbp2	UTSW	11	3717128	missense	probably damaging	1.00
R9087:Osbp2	UTSW	11	3717976	missense	probably damaging	1.00
R9148:Osbp2	UTSW	11	3715143	missense	probably damaging	1.00
R9281:Osbp2	UTSW	11	3863375	missense	probably benign
R9420:Osbp2	UTSW	11	3712170	missense	probably damaging	1.00
R9437:Osbp2	UTSW	11	3714581	missense	probably damaging	1.00
X0060:Osbp2	UTSW	11	3820035	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCATGATGATAGAAACAGAATGC -3'
(R):5'- ATGATTCTGGGGACGACGAC -3'

Sequencing Primer
(F):5'- ACAGAATGCTGGTTTGTGTGGAAAG -3'
(R):5'- TGCCCCAGCTGACAACAGTG -3'

Posted On

2014-07-14