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

C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4

MMRRC Submission

039949-MU

Accession Numbers

Essential gene?

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

Stock #

R1931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3653731-3813903 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 3676333 bp (GRCm39)

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
Aak1	T	G	6: 86,933,318 (GRCm39)	S430A	unknown	Het
Abhd16a	T	A	17: 35,319,991 (GRCm39)	F337L	probably benign	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts12	C	A	15: 11,270,685 (GRCm39)	Q647K	probably benign	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamtsl1	A	G	4: 86,260,648 (GRCm39)	E961G	possibly damaging	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,112,460 (GRCm39)	M1332V	probably damaging	Het
Birc6	T	C	17: 74,872,977 (GRCm39)	I412T	probably damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Coro2a	A	T	4: 46,539,138 (GRCm39)	*544R	probably null	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Dennd2c	A	G	3: 103,040,568 (GRCm39)	N278D	probably benign	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Dpp3	A	T	19: 4,967,888 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Eif4b	T	C	15: 101,997,411 (GRCm39)	S309P	unknown	Het
Eml3	G	A	19: 8,914,507 (GRCm39)	V507M	probably benign	Het
Ezhip	T	C	X: 5,994,817 (GRCm39)	E66G	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Fsip2	T	A	2: 82,817,077 (GRCm39)	L4270H	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Gfm1	A	G	3: 67,363,918 (GRCm39)	K465E	probably benign	Het
Gpld1	A	T	13: 25,127,693 (GRCm39)	I32L	possibly damaging	Het
H4c12	A	T	13: 21,934,682 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,857 (GRCm39)	T143A	probably benign	Het
Hoxd12	A	G	2: 74,505,875 (GRCm39)	T149A	probably benign	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Il31ra	T	A	13: 112,677,756 (GRCm39)	N287I	probably damaging	Het
Itga4	G	A	2: 79,144,188 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,141,852 (GRCm39)	V1730A	probably benign	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Lcn10	A	G	2: 25,574,347 (GRCm39)	Y118C	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nckap5l	A	G	15: 99,325,142 (GRCm39)	F454L	probably damaging	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Olfm1	G	A	2: 28,112,674 (GRCm39)		probably null	Het
Or2at4	G	T	7: 99,385,067 (GRCm39)	R239L	possibly damaging	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Or7g30	T	C	9: 19,352,647 (GRCm39)	L146P	possibly damaging	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Papss2	T	A	19: 32,616,368 (GRCm39)	C191*	probably null	Het
Pbxip1	A	T	3: 89,354,984 (GRCm39)		probably null	Het
Pdp1	A	G	4: 11,962,074 (GRCm39)	I79T	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pnisr	A	G	4: 21,873,612 (GRCm39)	T452A	probably benign	Het
Polr2a	A	T	11: 69,626,201 (GRCm39)	Y1612N	unknown	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Prr11	A	T	11: 86,996,868 (GRCm39)	L32*	probably null	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rps6kb1	A	G	11: 86,423,647 (GRCm39)	V111A	possibly damaging	Het
Sfxn1	A	T	13: 54,247,952 (GRCm39)	I226F	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
St8sia6	A	G	2: 13,797,623 (GRCm39)	S48P	probably benign	Het
Stra6l	A	T	4: 45,882,698 (GRCm39)	R470*	probably null	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Trim41	A	G	11: 48,698,319 (GRCm39)	V549A	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Unc5b	T	C	10: 60,608,348 (GRCm39)	T621A	probably benign	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Vmn1r214	C	A	13: 23,219,494 (GRCm39)	H329Q	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,072 (GRCm39)	K428*	probably null	Het
Vmn2r81	A	C	10: 79,129,328 (GRCm39)	I740L	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp735	A	T	11: 73,602,677 (GRCm39)	K540N	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
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
R4718:Osbp2	UTSW	11	3,661,793 (GRCm39)	missense	probably damaging	0.98
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'- CTGCATGATGATAGAAACAGAATGC -3'
(R):5'- ATGATTCTGGGGACGACGAC -3'

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

Posted On

2014-07-14