Mutagenetix > Incidental Mutation

Incidental Mutation 'R9148:Osbp2'

694820

Institutional Source

Beutler Lab

Gene Symbol

Osbp2

Ensembl Gene

ENSMUSG00000020435

Gene Name

oxysterol binding protein 2

Synonyms

C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4

MMRRC Submission

068937-MU

Accession Numbers

Essential gene?

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

Stock #

R9148 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3653731-3813903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3665143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 67 (L67P)

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: L520P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: L520P

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 damaging
Transcript: ENSMUST00000101632
AA Change: L109P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
AA Change: L109P

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 damaging
Transcript: ENSMUST00000102950
AA Change: L67P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
AA Change: L67P

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (94/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,345 (GRCm39)	I102N	probably damaging	Het
2610008E11Rik	A	T	10: 78,903,406 (GRCm39)	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,644,547 (GRCm39)	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,883,024 (GRCm39)	M858K	probably benign	Het
Ankrd29	T	C	18: 12,408,760 (GRCm39)		probably benign	Het
Arg1	A	C	10: 24,796,655 (GRCm39)	D57E	probably benign	Het
Bend4	G	A	5: 67,557,415 (GRCm39)	T467M	probably damaging	Het
C1s1	T	C	6: 124,517,758 (GRCm39)	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,972,773 (GRCm39)	G227S	possibly damaging	Het
Cbs	T	C	17: 31,844,889 (GRCm39)	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,070 (GRCm39)	E846G	probably damaging	Het
Cd6	A	T	19: 10,776,855 (GRCm39)	S57T	probably benign	Het
Cep20	G	A	16: 14,135,222 (GRCm39)		probably benign	Het
Col11a2	T	A	17: 34,273,119 (GRCm39)		probably benign	Het
Col7a1	T	C	9: 108,789,274 (GRCm39)	S829P	unknown	Het
Ctsj	T	C	13: 61,149,249 (GRCm39)	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,429,463 (GRCm39)	N915K	probably damaging	Het
E2f2	A	T	4: 135,908,595 (GRCm39)		probably null	Het
Eme1	T	C	11: 94,538,855 (GRCm39)	T342A	possibly damaging	Het
Epc1	A	T	18: 6,453,266 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,405,682 (GRCm39)	V811A	possibly damaging	Het
Fbxo2	A	G	4: 148,250,166 (GRCm39)	E232G	probably damaging	Het
Flnb	G	T	14: 7,817,996 (GRCm38)		probably benign	Het
Fmn1	A	C	2: 113,271,973 (GRCm39)	N114H	unknown	Het
Foxp2	A	T	6: 15,286,711 (GRCm39)	Q67L	possibly damaging	Het
Galntl5	A	T	5: 25,415,353 (GRCm39)	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095 (GRCm39)	T328S	probably benign	Het
Hint2	A	G	4: 43,654,952 (GRCm39)	I59T	probably damaging	Het
Hpn	C	T	7: 30,802,043 (GRCm39)	R252Q	probably benign	Het
Hspa12a	T	G	19: 58,793,890 (GRCm39)	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,912,000 (GRCm39)	D84E	possibly damaging	Het
Il1r2	T	A	1: 40,151,258 (GRCm39)	I171N	probably damaging	Het
Il31ra	C	T	13: 112,670,276 (GRCm39)	E371K	probably benign	Het
Klhl24	C	T	16: 19,936,690 (GRCm39)	R433C	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Lypd8l	T	A	11: 58,499,338 (GRCm39)	D160V	probably benign	Het
Macc1	T	C	12: 119,414,091 (GRCm39)	S756P	possibly damaging	Het
Mael	A	G	1: 166,029,259 (GRCm39)	V388A	probably benign	Het
Mast3	A	G	8: 71,233,091 (GRCm39)	S1074P	probably damaging	Het
Med13	A	G	11: 86,192,297 (GRCm39)	C823R	probably benign	Het
Megf6	A	G	4: 154,339,130 (GRCm39)	T556A	probably benign	Het
Mlip	A	G	9: 77,045,694 (GRCm39)	F14L	possibly damaging	Het
Moxd2	C	A	6: 40,860,978 (GRCm39)	C271F	probably damaging	Het
Myo1e	A	T	9: 70,283,830 (GRCm39)	D842V	probably damaging	Het
Ndst4	C	T	3: 125,231,722 (GRCm39)	A97V	probably damaging	Het
Nherf4	A	G	9: 44,160,676 (GRCm39)	C240R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx2	A	G	5: 144,492,980 (GRCm39)	T356A	probably benign	Het
Nup160	A	G	2: 90,533,489 (GRCm39)	D646G	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1j19	A	G	2: 36,676,938 (GRCm39)	T134A	probably benign	Het
Or1p1	A	C	11: 74,180,169 (GRCm39)	Q232H	probably damaging	Het
Or5c1	T	C	2: 37,222,017 (GRCm39)	L86P	possibly damaging	Het
Or7h8	T	A	9: 20,124,358 (GRCm39)	F238I	probably damaging	Het
Or8k24	A	G	2: 86,216,324 (GRCm39)	V146A	probably benign	Het
Pabpc6	C	T	17: 9,886,937 (GRCm39)	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,796,433 (GRCm39)	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328 (GRCm39)	D172V	probably benign	Het
Pfpl	A	T	19: 12,405,804 (GRCm39)	E18D	possibly damaging	Het
Plat	A	G	8: 23,268,466 (GRCm39)	T373A	probably damaging	Het
Plekhg1	G	A	10: 3,907,527 (GRCm39)	D870N		Het
Ppp1r13b	T	C	12: 111,800,268 (GRCm39)	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,543,974 (GRCm39)	V347D	probably damaging	Het
Prr12	G	T	7: 44,697,242 (GRCm39)	P891H	unknown	Het
Psg22	T	A	7: 18,460,682 (GRCm39)	I437K	probably benign	Het
Ptpra	T	A	2: 30,328,255 (GRCm39)	M192K	probably damaging	Het
Ptpra	G	T	2: 30,328,256 (GRCm39)	M192I	probably benign	Het
Ptprj	G	A	2: 90,288,562 (GRCm39)	S801L	probably benign	Het
Relb	T	C	7: 19,350,276 (GRCm39)	Y228C	probably damaging	Het
Rfx3	A	T	19: 27,878,207 (GRCm39)	V30E	possibly damaging	Het
Rgs2	A	G	1: 143,877,925 (GRCm39)	S124P	probably damaging	Het
Rph3a	T	C	5: 121,086,880 (GRCm39)	N440S	possibly damaging	Het
Ryr2	T	C	13: 11,900,424 (GRCm39)	T104A	probably benign	Het
Scn7a	T	C	2: 66,514,507 (GRCm39)	D1089G	possibly damaging	Het
Sebox	A	G	11: 78,395,222 (GRCm39)	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,323,418 (GRCm39)	F429L	probably damaging	Het
Six4	A	C	12: 73,155,681 (GRCm39)	S429A	probably benign	Het
Slc2a10	A	T	2: 165,357,543 (GRCm39)	H401L	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Ssbp2	T	C	13: 91,842,141 (GRCm39)	S321P	probably damaging	Het
Syne2	A	G	12: 75,937,158 (GRCm39)	E252G	probably damaging	Het
Synj2	T	C	17: 6,084,172 (GRCm39)	I1178T	probably damaging	Het
Tafa5	T	C	15: 87,428,775 (GRCm39)	I28T	probably benign	Het
Tmem132b	C	A	5: 125,864,167 (GRCm39)	Q758K	probably damaging	Het
Tril	A	G	6: 53,795,137 (GRCm39)	L695P	probably damaging	Het
Ubap1l	T	C	9: 65,276,603 (GRCm39)	L35P	probably damaging	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 21,034,758 (GRCm39)	M1T	probably null	Het
Vmn2r80	A	T	10: 79,030,687 (GRCm39)	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,286,383 (GRCm39)	W294R	probably benign	Het
Wnk1	A	G	6: 119,925,631 (GRCm39)	S1527P	unknown	Het
Wnt11	G	A	7: 98,488,241 (GRCm39)		probably benign	Het
Zdhhc17	A	T	10: 110,785,503 (GRCm39)	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,230,389 (GRCm39)	S271P	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
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
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'- AAGCCATGGCATCAGGCTAC -3'
(R):5'- AGCATACGACCTTCTGTCAGTCC -3'

Sequencing Primer
(F):5'- TGGCATCAGGCTACCACATG -3'
(R):5'- TCCTTGGAGGGTCAAGAGC -3'

Posted On

2022-01-20