Mutagenetix > Incidental Mutation

Incidental Mutation 'R4718:Osbp2'

354234

Institutional Source

Beutler Lab

Gene Symbol

Osbp2

Ensembl Gene

ENSMUSG00000020435

Gene Name

oxysterol binding protein 2

Synonyms

C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4

MMRRC Submission

041985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3653731-3813903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3661793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 753 (C753F)

Ref Sequence

ENSEMBL: ENSMUSP00000068652 (fasta)

Gene Model

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

AlphaFold

Q5QNQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070552
AA Change: C753F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: C753F

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 benign
Transcript: ENSMUST00000101632
AA Change: C342F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
AA Change: C342F

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 benign
Transcript: ENSMUST00000102950
AA Change: C300F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
AA Change: C300F

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,001,615 (GRCm39)		probably null	Het
Acsm2	A	T	7: 119,172,826 (GRCm39)	Y147F	probably damaging	Het
Alg12	A	T	15: 88,690,256 (GRCm39)	Y413N	probably damaging	Het
Arrdc3	A	T	13: 81,031,986 (GRCm39)	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,066,922 (GRCm39)	K1017E	probably damaging	Het
Bmal1	A	T	7: 112,902,568 (GRCm39)	I399F	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,206,107 (GRCm39)	Y47*	probably null	Het
Crat	A	T	2: 30,298,176 (GRCm39)	Y174*	probably null	Het
Csmd3	G	T	15: 47,561,546 (GRCm39)	Y2254*	probably null	Het
Cyld	T	A	8: 89,468,933 (GRCm39)	I568N	probably damaging	Het
Dapl1	T	C	2: 59,315,072 (GRCm39)	V7A	probably benign	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah9	A	G	11: 65,976,299 (GRCm39)	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,133,061 (GRCm39)	D114N	probably benign	Het
Dsg1b	A	G	18: 20,530,986 (GRCm39)	N446D	probably damaging	Het
Dthd1	T	A	5: 62,976,136 (GRCm39)	V270E	probably damaging	Het
F2rl3	A	C	8: 73,489,536 (GRCm39)	R254S	possibly damaging	Het
Fgfr2	A	G	7: 129,863,518 (GRCm39)	S24P	probably damaging	Het
Fpr2	T	C	17: 18,113,598 (GRCm39)	V198A	probably benign	Het
Gbp2b	G	A	3: 142,304,756 (GRCm39)	G64D	probably damaging	Het
Gbp9	T	G	5: 105,231,624 (GRCm39)	N321H	probably damaging	Het
Gk2	T	A	5: 97,603,725 (GRCm39)	Y371F	probably benign	Het
Gm10382	T	C	5: 125,466,462 (GRCm39)		probably benign	Het
Gpatch3	A	G	4: 133,309,855 (GRCm39)	D396G	probably benign	Het
Heatr5a	A	C	12: 51,962,946 (GRCm39)	L985V	possibly damaging	Het
Homer1	T	A	13: 93,528,272 (GRCm39)	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,607,692 (GRCm39)	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,876,089 (GRCm39)	I5M	possibly damaging	Het
Ints7	T	A	1: 191,315,389 (GRCm39)	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,776,603 (GRCm39)		probably null	Het
Junb	G	A	8: 85,705,061 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,020,992 (GRCm39)	N116S	probably benign	Het
Lrguk	A	G	6: 34,006,431 (GRCm39)	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,601,092 (GRCm39)	H41Q	probably damaging	Het
Ltb	C	A	17: 35,414,313 (GRCm39)		probably null	Het
Mapk7	A	G	11: 61,380,080 (GRCm39)	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,146,414 (GRCm39)	H208L	possibly damaging	Het
Megf9	A	T	4: 70,367,015 (GRCm39)	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,224,467 (GRCm39)	V227A	probably damaging	Het
Mospd3	G	A	5: 137,597,915 (GRCm39)	T151M	probably benign	Het
Mpl	A	G	4: 118,313,921 (GRCm39)	S115P	probably benign	Het
Myo6	C	A	9: 80,153,799 (GRCm39)	D258E	probably benign	Het
N4bp2	G	A	5: 65,960,806 (GRCm39)	M492I	probably damaging	Het
Ndst3	G	A	3: 123,465,915 (GRCm39)	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,601,082 (GRCm39)	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,342,803 (GRCm39)	T281A	probably benign	Het
Nmur1	A	G	1: 86,315,463 (GRCm39)	V157A	probably damaging	Het
Obscn	A	T	11: 58,912,780 (GRCm39)	F6992L	probably damaging	Het
Ocm	G	T	5: 143,961,375 (GRCm39)	P22Q	possibly damaging	Het
Or5be3	T	C	2: 86,864,239 (GRCm39)	T109A	probably damaging	Het
Pabpc2	A	G	18: 39,907,556 (GRCm39)	T274A	probably benign	Het
Pamr1	T	A	2: 102,472,681 (GRCm39)	I660N	probably damaging	Het
Papola	C	T	12: 105,786,707 (GRCm39)	T466I	possibly damaging	Het
Pask	T	C	1: 93,249,918 (GRCm39)	E494G	possibly damaging	Het
Pck1	A	T	2: 172,997,014 (GRCm39)	I219F	probably damaging	Het
Pgm3	T	C	9: 86,452,448 (GRCm39)	E4G	probably benign	Het
Pgs1	A	G	11: 117,896,709 (GRCm39)	H462R	probably damaging	Het
Phlpp2	T	A	8: 110,667,452 (GRCm39)	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,151,452 (GRCm39)	G3815W	probably damaging	Het
Plin4	T	A	17: 56,413,981 (GRCm39)	I215F	possibly damaging	Het
Plod1	T	G	4: 148,000,701 (GRCm39)		probably benign	Het
Ppfia2	T	C	10: 106,694,146 (GRCm39)	S707P	probably damaging	Het
Psmd12	A	G	11: 107,377,259 (GRCm39)	Q86R	probably benign	Het
Rasgrf2	C	A	13: 92,138,716 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,812,641 (GRCm39)	S926P	possibly damaging	Het
Rras2	A	T	7: 113,649,584 (GRCm39)	I160N	probably benign	Het
Slc27a6	A	T	18: 58,738,138 (GRCm39)	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,685,422 (GRCm39)	E239G	unknown	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Sptan1	A	G	2: 29,921,074 (GRCm39)	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,104,297 (GRCm39)	H136N	probably damaging	Het
Stau2	T	C	1: 16,416,269 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,624,495 (GRCm39)	D1818E	probably benign	Het
Tet1	T	A	10: 62,649,591 (GRCm39)	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,412,463 (GRCm39)	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,768,610 (GRCm39)	H59Q	probably benign	Het
Usp53	T	C	3: 122,727,631 (GRCm39)	I984V	probably benign	Het
Wdfy4	A	G	14: 32,867,273 (GRCm39)	I403T	probably benign	Het
Yars2	T	A	16: 16,127,204 (GRCm39)	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521 (GRCm39)	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,739,603 (GRCm39)	V478D	possibly damaging	Het

Other mutations in Osbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Osbp2	APN	11	3,661,848 (GRCm39)	missense	probably benign	0.02
IGL00231:Osbp2	APN	11	3,676,561 (GRCm39)	missense	possibly damaging	0.79
IGL01023:Osbp2	APN	11	3,813,387 (GRCm39)	missense	probably benign
IGL01819:Osbp2	APN	11	3,667,127 (GRCm39)	missense	probably damaging	1.00
IGL01931:Osbp2	APN	11	3,655,388 (GRCm39)	critical splice donor site	probably null
IGL01933:Osbp2	APN	11	3,662,016 (GRCm39)	missense	probably damaging	1.00
IGL02166:Osbp2	APN	11	3,667,983 (GRCm39)	missense	probably damaging	1.00
IGL02751:Osbp2	APN	11	3,813,434 (GRCm39)	missense	probably benign	0.20
IGL02812:Osbp2	APN	11	3,664,637 (GRCm39)	missense	probably benign	0.00
IGL03289:Osbp2	APN	11	3,813,380 (GRCm39)	missense	probably benign
3-1:Osbp2	UTSW	11	3,813,470 (GRCm39)	missense	probably benign	0.11
R0035:Osbp2	UTSW	11	3,667,997 (GRCm39)	splice site	probably benign
R0109:Osbp2	UTSW	11	3,661,791 (GRCm39)	missense	probably benign	0.00
R0414:Osbp2	UTSW	11	3,769,932 (GRCm39)	missense	probably damaging	1.00
R0491:Osbp2	UTSW	11	3,664,709 (GRCm39)	missense	probably damaging	1.00
R0791:Osbp2	UTSW	11	3,661,882 (GRCm39)	splice site	probably benign
R1473:Osbp2	UTSW	11	3,667,175 (GRCm39)	splice site	probably null
R1630:Osbp2	UTSW	11	3,667,167 (GRCm39)	missense	probably benign	0.15
R1931:Osbp2	UTSW	11	3,676,333 (GRCm39)	splice site	probably null
R2697:Osbp2	UTSW	11	3,813,407 (GRCm39)	missense	probably benign	0.00
R3799:Osbp2	UTSW	11	3,667,883 (GRCm39)	missense	probably damaging	1.00
R4700:Osbp2	UTSW	11	3,662,160 (GRCm39)	missense	probably damaging	1.00
R4788:Osbp2	UTSW	11	3,813,320 (GRCm39)	missense	probably benign	0.44
R5381:Osbp2	UTSW	11	3,655,593 (GRCm39)	missense	probably benign	0.12
R5615:Osbp2	UTSW	11	3,813,356 (GRCm39)	missense	probably benign	0.00
R5681:Osbp2	UTSW	11	3,813,486 (GRCm39)	missense	probably benign
R6171:Osbp2	UTSW	11	3,667,221 (GRCm39)	splice site	probably null
R6329:Osbp2	UTSW	11	3,665,153 (GRCm39)	missense	probably damaging	1.00
R6861:Osbp2	UTSW	11	3,665,191 (GRCm39)	missense	possibly damaging	0.68
R6987:Osbp2	UTSW	11	3,667,958 (GRCm39)	missense	probably damaging	0.99
R7205:Osbp2	UTSW	11	3,662,134 (GRCm39)	missense	probably damaging	1.00
R7316:Osbp2	UTSW	11	3,676,431 (GRCm39)	missense	probably damaging	1.00
R7540:Osbp2	UTSW	11	3,667,944 (GRCm39)	missense	probably damaging	0.99
R7559:Osbp2	UTSW	11	3,662,493 (GRCm39)	missense	probably damaging	1.00
R7830:Osbp2	UTSW	11	3,813,414 (GRCm39)	missense	probably benign
R8085:Osbp2	UTSW	11	3,662,521 (GRCm39)	missense	probably damaging	1.00
R9044:Osbp2	UTSW	11	3,667,128 (GRCm39)	missense	probably damaging	1.00
R9087:Osbp2	UTSW	11	3,667,976 (GRCm39)	missense	probably damaging	1.00
R9148:Osbp2	UTSW	11	3,665,143 (GRCm39)	missense	probably damaging	1.00
R9281:Osbp2	UTSW	11	3,813,375 (GRCm39)	missense	probably benign
R9420:Osbp2	UTSW	11	3,662,170 (GRCm39)	missense	probably damaging	1.00
R9437:Osbp2	UTSW	11	3,664,581 (GRCm39)	missense	probably damaging	1.00
X0060:Osbp2	UTSW	11	3,770,035 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCCATGCTTTCTGCCGGG -3'
(R):5'- CTACTTCTCCAAAGAGGCAGC -3'

Sequencing Primer
(F):5'- GGTGACCCTCTGCCAGTCTC -3'
(R):5'- TCCAAAGAGGCAGCCCGAAAG -3'

Posted On

2015-10-21