Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Osbp2'

535542

Institutional Source

Beutler Lab

Gene Symbol

Osbp2

Ensembl Gene

ENSMUSG00000020435

Gene Name

oxysterol binding protein 2

Synonyms

C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

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

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3653731-3813903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3665191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 51 (V51A)

Ref Sequence

ENSEMBL: ENSMUSP00000100015 (fasta)

Gene Model

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

AlphaFold

Q5QNQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070552
AA Change: V504A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: V504A

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: V93A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
AA Change: V93A

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

possibly damaging
Transcript: ENSMUST00000102950
AA Change: V51A

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
AA Change: V51A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127371

SMART Domains

Protein: ENSMUSP00000116361
Gene: ENSMUSG00000020435

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

probably benign
Transcript: ENSMUST00000155197

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	A	3: 95,588,194 (GRCm39)	R598C	probably damaging	Het
Adra2a	T	C	19: 54,034,818 (GRCm39)	L58P	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Alox5ap	A	G	5: 149,201,927 (GRCm39)	D2G	probably damaging	Het
Arid1b	G	A	17: 5,377,961 (GRCm39)	V1238M	possibly damaging	Het
Bank1	A	G	3: 135,960,764 (GRCm39)	V31A	probably benign	Het
Bptf	G	A	11: 106,953,391 (GRCm39)	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401 (GRCm38)	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214 (GRCm39)	I220V	probably benign	Het
Cep192	G	A	18: 67,974,699 (GRCm39)	M1267I	probably benign	Het
Cers5	G	A	15: 99,670,244 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,964,274 (GRCm39)	I558N	probably damaging	Het
Cfh	A	T	1: 140,028,621 (GRCm39)	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,107 (GRCm39)	I689V	probably benign	Het
Cgrrf1	T	C	14: 47,069,785 (GRCm39)	I18T	probably damaging	Het
CK137956	A	G	4: 127,864,519 (GRCm39)	S37P	probably damaging	Het
Clca4a	T	C	3: 144,676,416 (GRCm39)	D88G	probably benign	Het
Col11a1	G	A	3: 113,961,141 (GRCm39)	G1166D	probably damaging	Het
Col24a1	G	A	3: 145,166,589 (GRCm39)	G1075S	probably damaging	Het
Crispld2	C	T	8: 120,752,852 (GRCm39)	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,562,701 (GRCm39)	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,307,773 (GRCm39)	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,346,789 (GRCm39)	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,373,207 (GRCm39)	S525T	probably benign	Het
Drc7	T	G	8: 95,789,025 (GRCm39)		probably null	Het
Efhd2	G	T	4: 141,587,192 (GRCm39)		probably null	Het
Epb41l1	A	T	2: 156,367,142 (GRCm39)	E658D	probably benign	Het
Evi5	C	T	5: 107,896,184 (GRCm39)	S753N	probably benign	Het
Exoc3	A	T	13: 74,337,319 (GRCm39)	D427E	probably benign	Het
Fbxw9	A	G	8: 85,792,740 (GRCm39)	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,732,910 (GRCm39)	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,229,523 (GRCm39)	Y108F	probably damaging	Het
Gcn1	A	G	5: 115,749,108 (GRCm39)	D1880G	probably benign	Het
Gm4924	T	A	10: 82,214,948 (GRCm39)	Y915*	probably null	Het
Gpr139	T	A	7: 118,743,875 (GRCm39)	I237F	probably benign	Het
Hao2	A	G	3: 98,784,498 (GRCm39)	L289S	probably damaging	Het
Hexim1	A	G	11: 103,007,793 (GRCm39)	S16G	probably benign	Het
Hmgcs1	T	A	13: 120,161,535 (GRCm39)	M109K	probably damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,529,328 (GRCm39)	N101Y	probably damaging	Het
Idh2	G	A	7: 79,747,966 (GRCm39)	P245S	probably damaging	Het
Irx3	A	G	8: 92,525,530 (GRCm39)		probably benign	Het
Lilra5	A	T	7: 4,244,931 (GRCm39)	D234V	probably benign	Het
Lrfn5	G	A	12: 61,886,476 (GRCm39)	S88N	probably damaging	Het
Lrp2	A	T	2: 69,343,721 (GRCm39)	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,824,781 (GRCm39)	S249P	probably benign	Het
Ltbp1	C	T	17: 75,534,187 (GRCm39)	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,645 (GRCm39)			Het
Mier2	C	T	10: 79,376,990 (GRCm39)		probably benign	Het
Mup6	G	C	4: 60,004,093 (GRCm39)	G70A	probably benign	Het
Neb	A	G	2: 52,085,732 (GRCm39)	L5258P	probably damaging	Het
Nlrc5	G	A	8: 95,247,857 (GRCm39)		probably benign	Het
Nr6a1	A	T	2: 38,630,597 (GRCm39)	F207I	possibly damaging	Het
Or2y1	A	T	11: 49,385,632 (GRCm39)	T91S	probably benign	Het
Or5k17	A	T	16: 58,746,867 (GRCm39)	D22E	probably benign	Het
Or8b43	T	C	9: 38,360,731 (GRCm39)	C188R	probably damaging	Het
Papln	G	T	12: 83,821,723 (GRCm39)	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,265,904 (GRCm39)	S454P	probably damaging	Het
Pde4a	C	T	9: 21,116,597 (GRCm39)	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,385 (GRCm39)	S279*	probably null	Het
Rbl1	A	G	2: 156,994,887 (GRCm39)	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall3	C	A	18: 81,017,590 (GRCm39)	E113*	probably null	Het
Scn5a	A	C	9: 119,359,089 (GRCm39)	F653V	probably damaging	Het
Selenok	T	A	14: 29,692,005 (GRCm39)	N14K	possibly damaging	Het
Slc22a20	T	C	19: 6,021,838 (GRCm39)	T426A	probably benign	Het
Slc4a2	T	A	5: 24,640,007 (GRCm39)	S563T	probably damaging	Het
Sspo	T	A	6: 48,464,889 (GRCm39)	S3798T	probably benign	Het
Stag3	G	T	5: 138,302,969 (GRCm39)	R63L	possibly damaging	Het
Stard9	A	T	2: 120,535,667 (GRCm39)	M3975L	probably benign	Het
Syne2	C	A	12: 75,956,040 (GRCm39)	T582K	probably damaging	Het
Synj1	G	A	16: 90,760,768 (GRCm39)	Q748*	probably null	Het
Tas2r109	T	C	6: 132,957,048 (GRCm39)	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,245,603 (GRCm39)	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,245,703 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,730,955 (GRCm39)	D19G	probably damaging	Het
Tecta	A	G	9: 42,248,633 (GRCm39)	V1923A	possibly damaging	Het
Tg	T	A	15: 66,560,740 (GRCm39)	M1034K	probably benign	Het
Ttf2	T	C	3: 100,876,941 (GRCm39)	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,541 (GRCm39)	V983E	probably damaging	Het
Vps35l	A	G	7: 118,342,898 (GRCm39)	H32R	probably damaging	Het
Vwa2	T	C	19: 56,890,025 (GRCm39)	V210A	probably benign	Het
Xkr6	T	A	14: 64,057,093 (GRCm39)	Y335N	probably benign	Het
Zfp97	A	G	17: 17,365,437 (GRCm39)	H312R	probably 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
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
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'- TGGCATCAGGCTACCACATG -3'
(R):5'- CTTTCCTACCAAGCAGTTTAACAG -3'

Sequencing Primer
(F):5'- GGCTACCACATGCCCAGAG -3'
(R):5'- GCAGTTTAACAGCATACGACCTTCTG -3'

Posted On

2018-09-12