Incidental Mutation 'R8085:Osbp2'
ID 629603
Institutional Source Beutler Lab
Gene Symbol Osbp2
Ensembl Gene ENSMUSG00000020435
Gene Name oxysterol binding protein 2
Synonyms C630001G20Rik, 1700095P05Rik, OSBPL1, ORP-4
MMRRC Submission 067518-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R8085 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 3653731-3813903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3662521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 187 (L187P)
Ref Sequence ENSEMBL: ENSMUSP00000100015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070552] [ENSMUST00000101632] [ENSMUST00000102950]
AlphaFold Q5QNQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000070552
AA Change: L640P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068652
Gene: ENSMUSG00000020435
AA Change: L640P

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 damaging
Transcript: ENSMUST00000101632
AA Change: L229P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099156
Gene: ENSMUSG00000020435
AA Change: L229P

DomainStartEndE-ValueType
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: L187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100015
Gene: ENSMUSG00000020435
AA Change: L187P

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 66 442 2.8e-132 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.0%
Validation Efficiency 99% (81/82)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G T 9: 30,854,611 (GRCm39) R160L probably benign Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
AW146154 C T 7: 41,130,621 (GRCm39) G165D possibly damaging Het
AW146154 C A 7: 41,130,622 (GRCm39) G165C probably damaging Het
Cachd1 G A 4: 100,845,361 (GRCm39) G951D probably damaging Het
Clstn3 T C 6: 124,435,683 (GRCm39) N250D probably benign Het
Coch G C 12: 51,650,031 (GRCm39) G340A possibly damaging Het
Col18a1 A G 10: 76,924,741 (GRCm39) V226A unknown Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Dgkh A T 14: 78,824,558 (GRCm39) probably null Het
Disp2 C T 2: 118,617,452 (GRCm39) L149F possibly damaging Het
Dpt T C 1: 164,650,756 (GRCm39) F186S probably damaging Het
Eif3l T G 15: 78,961,066 (GRCm39) Y40D probably damaging Het
Epha3 A C 16: 63,403,873 (GRCm39) Y743D probably damaging Het
Ercc6l2 A T 13: 63,992,367 (GRCm39) Y272F probably benign Het
Exoc2 G A 13: 31,124,686 (GRCm39) L9F probably damaging Het
Fkbp9 A G 6: 56,833,289 (GRCm39) T259A probably benign Het
Gm5622 A T 14: 51,895,201 (GRCm39) K120M probably damaging Het
Hectd1 A T 12: 51,795,679 (GRCm39) F2250Y probably damaging Het
Herc2 A G 7: 55,879,427 (GRCm39) I4682V probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Kctd1 T A 18: 15,140,901 (GRCm39) I610F possibly damaging Het
Kif5a A T 10: 127,075,178 (GRCm39) D478E probably benign Het
Klf13 G T 7: 63,541,497 (GRCm39) A210E probably damaging Het
Klhl20 C A 1: 160,921,354 (GRCm39) G543C probably damaging Het
Krt78 T C 15: 101,855,715 (GRCm39) T699A possibly damaging Het
Lgr5 A T 10: 115,311,102 (GRCm39) D231E probably benign Het
Lonrf1 C A 8: 36,715,769 (GRCm39) G289W probably damaging Het
Lyst T C 13: 13,808,894 (GRCm39) L188P probably damaging Het
Mab21l2 T C 3: 86,455,393 (GRCm39) probably benign Het
Macf1 A G 4: 123,303,875 (GRCm39) V209A possibly damaging Het
Mctp1 A C 13: 76,972,972 (GRCm39) R658S probably benign Het
Mdfi T C 17: 48,127,042 (GRCm39) T178A probably damaging Het
Msln T A 17: 25,971,942 (GRCm39) K92* probably null Het
Msx3 T C 7: 139,627,998 (GRCm39) H113R unknown Het
Muc6 T A 7: 141,226,729 (GRCm39) T1433S unknown Het
Musk T A 4: 58,373,110 (GRCm39) S693R probably benign Het
Myh13 A G 11: 67,225,613 (GRCm39) K296R probably benign Het
Mylip A T 13: 45,563,928 (GRCm39) H427L possibly damaging Het
Nradd G T 9: 110,451,179 (GRCm39) T63K possibly damaging Het
Ntaq1 T G 15: 58,015,983 (GRCm39) probably null Het
Or5h17 A G 16: 58,820,432 (GRCm39) N128S probably benign Het
Or5p66 G T 7: 107,885,620 (GRCm39) Q238K probably benign Het
Oxct1 A G 15: 4,158,350 (GRCm39) D428G probably damaging Het
Oxsm G T 14: 16,242,439 (GRCm38) S110* probably null Het
Pard6a A G 8: 106,429,642 (GRCm39) Q230R probably damaging Het
Pkhd1 C A 1: 20,683,639 (GRCm39) W38L probably damaging Het
Plekhh2 A G 17: 84,905,384 (GRCm39) N1093D probably damaging Het
Rttn C T 18: 89,071,672 (GRCm39) Q1240* probably null Het
Serpina1d T C 12: 103,730,087 (GRCm39) E365G probably damaging Het
Sis A T 3: 72,814,462 (GRCm39) H1589Q probably damaging Het
Slc40a1 A T 1: 45,957,528 (GRCm39) I152N probably damaging Het
Slc44a5 C T 3: 153,928,414 (GRCm39) P59S probably damaging Het
Smarca4 T A 9: 21,570,108 (GRCm39) probably null Het
Smim33 A T 18: 35,861,573 (GRCm39) D19V probably benign Het
Spag9 A G 11: 93,989,870 (GRCm39) Y930C probably benign Het
Speg A G 1: 75,391,997 (GRCm39) E1593G probably damaging Het
St3gal5 G T 6: 72,074,925 (GRCm39) A62S unknown Het
Stx1a T C 5: 135,066,431 (GRCm39) probably null Het
Syne1 T A 10: 5,178,021 (GRCm39) I4818F possibly damaging Het
Tango6 A G 8: 107,447,366 (GRCm39) H588R probably benign Het
Tapt1 T C 5: 44,336,307 (GRCm39) Y454C probably damaging Het
Tep1 A G 14: 51,066,753 (GRCm39) Y2282H probably benign Het
Tle6 A T 10: 81,431,792 (GRCm39) W151R probably damaging Het
Tmem131l A T 3: 83,834,438 (GRCm39) M715K possibly damaging Het
Ubr1 T A 2: 120,764,898 (GRCm39) R519* probably null Het
Usp1 A T 4: 98,816,578 (GRCm39) N93I probably damaging Het
Vmn1r211 A T 13: 23,035,953 (GRCm39) M238K probably damaging Het
Vmn1r238 A G 18: 3,123,151 (GRCm39) Y88H probably damaging Het
Vmn2r62 A G 7: 42,437,270 (GRCm39) Y405H probably damaging Het
Vmn2r78 A G 7: 86,603,998 (GRCm39) I725M probably benign Het
Zfp12 C T 5: 143,230,681 (GRCm39) T368M probably 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
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
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'- CAGAGGAATATCTACAAAGCTTTGG -3'
(R):5'- TCCCTAAGACGAGCAGTAGC -3'

Sequencing Primer
(F):5'- TACAAAGCTTTGGAGGGGGTG -3'
(R):5'- AGCAGTAGCCGGGCTTATTC -3'
Posted On 2020-06-30