Mutagenetix > Incidental Mutation

Incidental Mutation 'R9281:Osbp2'

703640

Institutional Source

Beutler Lab

Gene Symbol

Osbp2

Ensembl Gene

ENSMUSG00000020435

Gene Name

oxysterol binding protein 2

Synonyms

C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9281 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3653731-3813903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3813375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 165 (T165S)

Ref Sequence

ENSEMBL: ENSMUSP00000068652 (fasta)

Gene Model

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

AlphaFold

Q5QNQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000070552
AA Change: T165S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: T165S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,184 (GRCm39)	I102M	possibly damaging	Het
2700049A03Rik	G	A	12: 71,205,687 (GRCm39)	V444I	possibly damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Ano1	A	T	7: 144,149,318 (GRCm39)	Y848N	probably damaging	Het
Arap2	C	T	5: 62,906,848 (GRCm39)	R57H	probably damaging	Het
Atp10b	C	T	11: 43,116,458 (GRCm39)	T935I	probably benign	Het
Bcl11b	A	G	12: 107,882,257 (GRCm39)	L686P	possibly damaging	Het
Bmp5	T	C	9: 75,683,856 (GRCm39)	V161A	probably benign	Het
C1qtnf3	A	G	15: 10,978,607 (GRCm39)	E196G	probably benign	Het
Cacng8	T	A	7: 3,460,608 (GRCm39)	F130L	probably damaging	Het
Cap1	A	G	4: 122,766,226 (GRCm39)	M4T	probably benign	Het
Ccdc57	T	C	11: 120,751,413 (GRCm39)	K886E	probably benign	Het
Cdhr2	A	C	13: 54,881,703 (GRCm39)	T1112P	possibly damaging	Het
Clcn4	A	T	7: 7,294,813 (GRCm39)	M316K	probably benign	Het
Col22a1	A	T	15: 71,732,920 (GRCm39)	D1099E	unknown	Het
Csmd3	A	C	15: 47,460,272 (GRCm39)	N2595K		Het
Ctdspl2	A	G	2: 121,841,063 (GRCm39)	H451R	probably benign	Het
Cybrd1	A	T	2: 70,968,735 (GRCm39)	T203S	probably benign	Het
Dhx29	A	G	13: 113,078,240 (GRCm39)	N312S	possibly damaging	Het
Dhx30	A	T	9: 109,929,983 (GRCm39)	S38T	probably benign	Het
Dync2i1	G	A	12: 116,211,677 (GRCm39)	R277*	probably null	Het
Ercc8	G	T	13: 108,320,364 (GRCm39)	A317S	probably benign	Het
Fndc3a	T	C	14: 72,799,097 (GRCm39)	T629A	probably benign	Het
Frmpd1	G	T	4: 45,284,127 (GRCm39)	A983S	probably benign	Het
Gm14325	T	A	2: 177,473,597 (GRCm39)	Y495F	probably damaging	Het
Gm5773	A	T	3: 93,680,891 (GRCm39)	T188S	probably benign	Het
Gpsm1	C	A	2: 26,214,488 (GRCm39)	N243K	probably damaging	Het
Inpp4a	C	G	1: 37,410,850 (GRCm39)	H339Q	probably damaging	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Kdm4a	A	G	4: 117,995,728 (GRCm39)	V1003A	probably damaging	Het
Lrrc25	T	A	8: 71,073,246 (GRCm39)	M276K	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmdc2	G	A	1: 9,994,425 (GRCm39)	G406D	probably damaging	Het
Mfhas1	G	T	8: 36,057,951 (GRCm39)	A809S	probably benign	Het
Mier2	A	T	10: 79,378,294 (GRCm39)	D376E	probably benign	Het
Mllt3	A	C	4: 87,707,566 (GRCm39)	H464Q	probably benign	Het
Mtrex	A	T	13: 113,046,443 (GRCm39)	C302*	probably null	Het
Myo6	T	A	9: 80,162,164 (GRCm39)	Y300*	probably null	Het
Myzap	T	C	9: 71,493,482 (GRCm39)	D31G	unknown	Het
Nfatc1	T	C	18: 80,741,190 (GRCm39)	Y270C	probably damaging	Het
Nsd3	T	C	8: 26,152,961 (GRCm39)	S434P	probably benign	Het
Or13p3	A	G	4: 118,566,592 (GRCm39)		probably benign	Het
Or1e26	T	A	11: 73,480,133 (GRCm39)	M144L	probably benign	Het
Plxna1	A	G	6: 89,300,313 (GRCm39)	V1590A	probably damaging	Het
Pramel7	A	G	2: 87,321,495 (GRCm39)	L180P	probably damaging	Het
Prkd1	C	T	12: 50,536,758 (GRCm39)	D109N	probably benign	Het
Ptger3	A	G	3: 157,273,090 (GRCm39)	M146V	probably benign	Het
Pts	A	G	9: 50,433,853 (GRCm39)	V96A	probably damaging	Het
Rab11fip5	T	C	6: 85,318,834 (GRCm39)	E685G	probably benign	Het
Rab27a	C	T	9: 72,992,278 (GRCm39)	T102I	probably damaging	Het
Reln	A	G	5: 22,153,545 (GRCm39)	L2253P	probably damaging	Het
Rock1	C	T	18: 10,080,479 (GRCm39)	A1022T	probably benign	Het
Rspry1	T	A	8: 95,363,259 (GRCm39)	N259K	probably damaging	Het
Sdha	A	T	13: 74,472,056 (GRCm39)	Y604*	probably null	Het
Slc12a6	A	G	2: 112,164,754 (GRCm39)	N151S	probably benign	Het
Slc26a5	T	A	5: 22,019,051 (GRCm39)	D596V	probably benign	Het
Snrpa	A	G	7: 26,891,051 (GRCm39)	V140A	probably benign	Het
Spta1	T	G	1: 174,047,444 (GRCm39)	V1696G	probably damaging	Het
St13	A	T	15: 81,261,927 (GRCm39)	D179E	probably damaging	Het
Stpg4	T	C	17: 87,702,671 (GRCm39)	D182G	probably benign	Het
Synm	A	T	7: 67,386,048 (GRCm39)	L538*	probably null	Het
Tigar	A	T	6: 127,068,157 (GRCm39)	L87H	probably damaging	Het
Tmem67	C	A	4: 12,079,962 (GRCm39)	V110F	possibly damaging	Het
Trav6n-5	T	A	14: 53,342,744 (GRCm39)	L94*	probably null	Het
Ttf1	A	G	2: 28,955,902 (GRCm39)	H422R	probably benign	Het
Ttn	A	G	2: 76,619,926 (GRCm39)	V15914A	probably damaging	Het
Vmn2r13	C	A	5: 109,303,953 (GRCm39)	C826F	probably damaging	Het
Wwc1	C	G	11: 35,780,211 (GRCm39)	G248A	probably benign	Het
Zfp120	G	A	2: 149,959,615 (GRCm39)	H258Y	probably damaging	Het
Zfp142	A	G	1: 74,607,731 (GRCm39)	Y1681H	probably damaging	Het
Zkscan3	A	G	13: 21,579,045 (GRCm39)	L150P	possibly damaging	Het
Zscan4-ps1	G	T	7: 10,799,589 (GRCm39)	F433L	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
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
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'- GCAAACATCTCAGAAGGGTTATGG -3'
(R):5'- TCAGAGAACGGCACAAGGTC -3'

Sequencing Primer
(F):5'- CACCCCACAGTCGAGGC -3'
(R):5'- AGGTCTGTGTCCATCATCAAAGC -3'

Posted On

2022-03-25