Incidental Mutation 'IGL01023:Osbp2'
ID 53895
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 # IGL01023
Quality Score
Status
Chromosome 11
Chromosomal Location 3653731-3813903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3813387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 161 (I161V)
Ref Sequence ENSEMBL: ENSMUSP00000068652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070552]
AlphaFold Q5QNQ6
Predicted Effect probably benign
Transcript: ENSMUST00000070552
AA Change: I161V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: I161V

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 noncoding transcript
Transcript: ENSMUST00000135250
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 A G 2: 128,471,649 (GRCm39) L1472P probably damaging Het
Col18a1 C T 10: 76,906,809 (GRCm39) V1151M probably damaging Het
Crmp1 A T 5: 37,433,657 (GRCm39) D286V probably damaging Het
Ddx60 A T 8: 62,395,548 (GRCm39) I162F probably damaging Het
Fam24b A T 7: 130,927,903 (GRCm39) C95* probably null Het
Fsd1 A G 17: 56,295,245 (GRCm39) Y78C probably damaging Het
Galc C T 12: 98,197,681 (GRCm39) V343I probably benign Het
Glis2 C T 16: 4,429,514 (GRCm39) R214C probably damaging Het
Gm14406 A T 2: 177,261,032 (GRCm39) C416S probably damaging Het
Gnat3 T C 5: 18,208,826 (GRCm39) S177P probably damaging Het
Higd1a C T 9: 121,678,749 (GRCm39) G80D possibly damaging Het
Hp1bp3 T C 4: 137,967,940 (GRCm39) V421A possibly damaging Het
Ipo11 A T 13: 107,033,767 (GRCm39) F238L probably benign Het
Med26 A T 8: 73,249,718 (GRCm39) F460L possibly damaging Het
Or5as1 T A 2: 86,980,169 (GRCm39) T279S possibly damaging Het
Prr5 T C 15: 84,583,856 (GRCm39) V152A possibly damaging Het
Prx T A 7: 27,218,844 (GRCm39) I1115K probably benign Het
Ptpn22 A G 3: 103,810,690 (GRCm39) I708M probably benign Het
Robo3 T C 9: 37,340,847 (GRCm39) T120A probably damaging Het
Setd2 C A 9: 110,376,581 (GRCm39) S132* probably null Het
Slc9a1 A G 4: 133,149,454 (GRCm39) E760G probably benign Het
Slco1a7 A G 6: 141,700,155 (GRCm39) S126P probably benign Het
Stx16 A T 2: 173,934,202 (GRCm39) H135L probably damaging Het
Tas2r131 A T 6: 132,934,764 (GRCm39) L15Q probably damaging Het
Thoc2l T A 5: 104,668,366 (GRCm39) W963R probably damaging Het
Tmcc1 A G 6: 116,019,988 (GRCm39) L128P probably damaging Het
Tmem269 C A 4: 119,066,511 (GRCm39) M182I probably benign Het
Tnfaip8l2 A G 3: 95,047,726 (GRCm39) S46P probably damaging Het
Trim30c A G 7: 104,032,179 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,469 (GRCm39) E184K probably benign Het
Wfs1 A T 5: 37,125,261 (GRCm39) C467* probably null Het
Zfp78 G A 7: 6,378,587 (GRCm39) G77D possibly damaging 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
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
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 2013-06-28