Incidental Mutation 'IGL01931:Osbp2'
ID 180447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osbp2
Ensembl Gene ENSMUSG00000020435
Gene Name oxysterol binding protein 2
Synonyms C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL01931
Quality Score
Status
Chromosome 11
Chromosomal Location 3653731-3813903 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 3655388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070552] [ENSMUST00000101632] [ENSMUST00000102950]
AlphaFold Q5QNQ6
Predicted Effect probably null
Transcript: ENSMUST00000070552
SMART Domains Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 66 442 2.8e-132 PFAM
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik A G 7: 124,917,869 (GRCm39) E87G unknown Het
Ano2 A G 6: 125,959,708 (GRCm39) Y656C probably damaging Het
Cckbr T C 7: 105,075,310 (GRCm39) S27P probably benign Het
Celsr1 T A 15: 85,791,861 (GRCm39) N2580I probably damaging Het
Cfap221 A G 1: 119,860,625 (GRCm39) L667P probably damaging Het
Col16a1 T C 4: 129,966,634 (GRCm39) C555R possibly damaging Het
Dync2h1 A G 9: 7,114,973 (GRCm39) V162A probably damaging Het
Dync2h1 G A 9: 7,011,207 (GRCm39) S3669L probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm4922 A G 10: 18,660,042 (GRCm39) S227P probably benign Het
Grin2c A G 11: 115,144,736 (GRCm39) F597L probably damaging Het
Hook3 G A 8: 26,578,083 (GRCm39) probably benign Het
Ltv1 A G 10: 13,061,245 (GRCm39) I106T probably damaging Het
Mdc1 T C 17: 36,159,123 (GRCm39) V501A probably benign Het
Myo15a T A 11: 60,386,964 (GRCm39) C667S probably damaging Het
Myom3 T C 4: 135,516,950 (GRCm39) V840A probably benign Het
Naip1 G T 13: 100,545,540 (GRCm39) C1329* probably null Het
Oas1c A C 5: 120,943,560 (GRCm39) I193S probably benign Het
Phf1 T C 17: 27,154,509 (GRCm39) probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppox T C 1: 171,105,456 (GRCm39) Q302R probably null Het
Sec24b G A 3: 129,803,448 (GRCm39) P305S probably benign Het
Spink5 A T 18: 44,148,705 (GRCm39) I923F probably benign Het
Thsd7a A T 6: 12,504,098 (GRCm39) V352E probably damaging Het
Tpi1 A G 6: 124,789,603 (GRCm39) V152A possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdfy4 C T 14: 32,877,710 (GRCm39) G85S probably damaging Het
Wnk4 A G 11: 101,159,310 (GRCm39) T139A possibly damaging Het
Zfp345 T C 2: 150,315,270 (GRCm39) H89R probably benign Het
Other mutations in Osbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07