Incidental Mutation 'RF007:Osbpl8'
ID 602916
Institutional Source Beutler Lab
Gene Symbol Osbpl8
Ensembl Gene ENSMUSG00000020189
Gene Name oxysterol binding protein-like 8
Synonyms ORP-8, D330025H14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # RF007 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 111000663-111133110 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111112328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 481 (K481R)
Ref Sequence ENSEMBL: ENSMUSP00000100911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095310] [ENSMUST00000105275]
AlphaFold B9EJ86
Predicted Effect possibly damaging
Transcript: ENSMUST00000095310
AA Change: K439R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092948
Gene: ENSMUSG00000020189
AA Change: K439R

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
coiled coil region 71 102 N/A INTRINSIC
PH 107 225 3.65e-16 SMART
Pfam:Oxysterol_BP 364 715 6.4e-91 PFAM
coiled coil region 789 811 N/A INTRINSIC
transmembrane domain 829 846 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105275
AA Change: K481R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
AA Change: K481R

DomainStartEndE-ValueType
low complexity region 85 101 N/A INTRINSIC
coiled coil region 113 144 N/A INTRINSIC
PH 149 267 3.65e-16 SMART
Pfam:Oxysterol_BP 406 752 4.6e-91 PFAM
coiled coil region 831 853 N/A INTRINSIC
transmembrane domain 871 888 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: This gene encodes a member of the oxysterol-binding protein (Osbp) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal Osbp-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit elevated of HDL and gender-specific alterations in lipid metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,661,401 (GRCm39) S933T probably benign Het
Adgrl2 G A 3: 148,544,884 (GRCm39) T737I probably damaging Het
Adra2c T A 5: 35,438,386 (GRCm39) V386E probably damaging Het
Agbl5 C A 5: 31,060,589 (GRCm39) T761N unknown Het
Ahnak T A 19: 8,990,965 (GRCm39) M4083K possibly damaging Het
Aldh1l1 A T 6: 90,575,241 (GRCm39) I843F probably damaging Het
Ankhd1 GGCGGC GGCGGCTGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Arid1b GCG GCGCCG 17: 5,045,869 (GRCm39) probably benign Het
B4galnt4 T C 7: 140,650,609 (GRCm39) probably null Het
Blm C CTCCTCCTCCTAG 7: 80,162,681 (GRCm39) probably null Het
Btg3 A G 16: 78,129,836 (GRCm39) *52W probably null Het
Cc2d1a T C 8: 84,861,298 (GRCm39) T796A probably damaging Het
Cd200r1 T C 16: 44,610,374 (GRCm39) S161P possibly damaging Het
Cenpj A G 14: 56,767,505 (GRCm39) probably null Het
Cfap251 G GGAT 5: 123,392,317 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,578 (GRCm39) T2108A possibly damaging Het
Cherp TGGAGCG T 8: 73,215,903 (GRCm39) probably benign Het
Cnot11 T C 1: 39,581,575 (GRCm39) V372A probably damaging Het
Cntnap5b T C 1: 100,091,795 (GRCm39) C179R probably damaging Het
Cntrl T A 2: 35,060,512 (GRCm39) N1901K probably benign Het
Coil CTGG C 11: 88,872,656 (GRCm39) probably benign Het
Col1a1 A G 11: 94,833,866 (GRCm39) D488G probably damaging Het
Coro1a T C 7: 126,301,024 (GRCm39) H130R probably damaging Het
Crybg3 A C 16: 59,377,067 (GRCm39) S1396A possibly damaging Het
Csf2rb2 A G 15: 78,176,126 (GRCm39) I259T probably benign Het
Cyp1a2 G T 9: 57,589,253 (GRCm39) P187Q probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dcun1d3 T C 7: 119,458,726 (GRCm39) E103G possibly damaging Het
Dmkn T A 7: 30,469,129 (GRCm39) probably null Het
Dna2 T C 10: 62,802,474 (GRCm39) L864P probably damaging Het
Dnah14 T A 1: 181,513,374 (GRCm39) M1909K probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Ecrg4 TTCTGTA T 1: 43,776,352 (GRCm39) probably benign Het
Efna5 T C 17: 62,920,389 (GRCm39) S163G probably benign Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Ercc4 C T 16: 12,941,371 (GRCm39) S253L possibly damaging Het
Flywch1 ACCCA ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA 17: 23,981,138 (GRCm39) probably null Het
Flywch1 CCTGGTGT CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT 17: 23,981,145 (GRCm39) probably null Het
Folh1 T C 7: 86,424,895 (GRCm39) T25A probably benign Het
Foxi3 C A 6: 70,937,845 (GRCm39) T359K possibly damaging Het
Gab3 TTC TTCATC X: 74,043,631 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gba2 G T 4: 43,569,894 (GRCm39) L440M probably damaging Het
Gm14412 T A 2: 177,007,494 (GRCm39) N134Y possibly damaging Het
Gpr88 A G 3: 116,046,018 (GRCm39) S98P probably benign Het
Il1r1 A G 1: 40,352,438 (GRCm39) Y539C probably damaging Het
Iqcf4 TTTCCTTTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT 9: 106,447,808 (GRCm39) probably benign Het
Lce1m CTGCT CTGCTTCCACTGTTGCT 3: 92,925,451 (GRCm39) probably benign Het
Lkaaear1 T TATCTCCAGCTCC 2: 181,339,352 (GRCm39) probably benign Het
Lkaaear1 CAGCTCCAGCTCCAGCTCCAGCTC CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC 2: 181,339,370 (GRCm39) probably benign Het
Ltb4r1 T A 14: 56,005,426 (GRCm39) L243Q possibly damaging Het
Man2a1 T A 17: 65,019,248 (GRCm39) V704D probably damaging Het
Map1a CTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA 2: 121,136,789 (GRCm39) probably benign Het
Mcu G T 10: 59,326,938 (GRCm39) A63E probably benign Het
Mrps31 A T 8: 22,909,880 (GRCm39) D182V possibly damaging Het
Mslnl T A 17: 25,962,202 (GRCm39) V200E possibly damaging Het
Naip1 A T 13: 100,562,642 (GRCm39) M841K probably benign Het
Ndufab1 T C 7: 121,695,861 (GRCm39) K88E possibly damaging Het
Nlrp5 A C 7: 23,117,586 (GRCm39) I437L probably benign Het
Nnt C T 13: 119,533,393 (GRCm39) V91M probably damaging Het
Nusap1 TACACGTTAGCAGTGAGGAGCAAGCTGAGA TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,062 (GRCm39) probably benign Het
Nynrin T G 14: 56,103,658 (GRCm39) probably null Het
Or12k5 T G 2: 36,895,186 (GRCm39) T147P probably damaging Het
Or5ak22 C A 2: 85,230,137 (GRCm39) A247S probably damaging Het
Or6c204 T A 10: 129,022,562 (GRCm39) I243F probably damaging Het
Padi6 T C 4: 140,457,054 (GRCm39) D540G probably damaging Het
Pcmtd1 T C 1: 7,225,329 (GRCm39) probably benign Het
Pdik1l TTTTTGTTTT TTTTTGTTTTGGTTTTGTTTT 4: 134,006,679 (GRCm39) probably null Het
Phospho1 T C 11: 95,721,881 (GRCm39) Y184H probably damaging Het
Pi4ka T A 16: 17,115,097 (GRCm39) R1431W Het
Plxdc1 T A 11: 97,869,504 (GRCm39) H28L probably benign Het
Pnma8a ACCTCATGATGCACCTGCTTCAACA ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA 7: 16,695,349 (GRCm39) probably benign Het
Ppp1r7 T C 1: 93,274,011 (GRCm39) probably null Het
Ppp1r9a T A 6: 4,906,657 (GRCm39) V404E probably damaging Het
Scfd1 T A 12: 51,469,756 (GRCm39) S434T probably benign Het
Six5 A G 7: 18,828,862 (GRCm39) S101G probably benign Het
Slc6a4 C A 11: 76,910,008 (GRCm39) T421K probably damaging Het
Smarcd3 C A 5: 24,801,068 (GRCm39) R113L probably damaging Het
Son T A 16: 91,456,257 (GRCm39) M1668K possibly damaging Het
Spmap2l CTCCCCAGTCCCGCAAGGCCAG CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG 5: 77,164,255 (GRCm39) probably benign Het
Tcf25 A G 8: 124,122,369 (GRCm39) D434G probably benign Het
Tcof1 CCAGAGATCCCC CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC 18: 60,966,640 (GRCm39) probably benign Het
Tep1 A G 14: 51,098,402 (GRCm39) V463A possibly damaging Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim24 A G 6: 37,930,471 (GRCm39) K642E possibly damaging Het
Trim33 GGCCCCCGC GGC 3: 103,187,533 (GRCm39) probably benign Het
Triobp CTCCCTGTGCCCAACGG CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG 15: 78,851,244 (GRCm39) probably benign Het
Trmu G T 15: 85,776,770 (GRCm39) V161L possibly damaging Het
Try4 T A 6: 41,282,297 (GRCm39) C206S probably damaging Het
Usp2 TTCACTTAC TTCACTTACTCATGTGACCTGTTCGTCACTTAC 9: 44,000,418 (GRCm39) probably benign Het
Vmn1r62 A T 7: 5,678,669 (GRCm39) M117L probably benign Het
Vmn2r104 A T 17: 20,268,302 (GRCm39) Y56N probably benign Het
Xxylt1 C T 16: 30,869,498 (GRCm39) D201N possibly damaging Het
Zfp563 T A 17: 33,323,999 (GRCm39) I198K probably benign Het
Zfp612 T A 8: 110,816,174 (GRCm39) C460* probably null Het
Zfp691 G A 4: 119,027,932 (GRCm39) T100M probably benign Het
Zfp773 A T 7: 7,135,689 (GRCm39) C302* probably null Het
Zmat2 A G 18: 36,930,936 (GRCm39) E154G probably damaging Het
Zw10 T A 9: 48,972,220 (GRCm39) I132N possibly damaging Het
Other mutations in Osbpl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Osbpl8 APN 10 111,108,905 (GRCm39) missense probably benign 0.30
IGL00826:Osbpl8 APN 10 111,108,181 (GRCm39) splice site probably benign
IGL00839:Osbpl8 APN 10 111,127,371 (GRCm39) missense probably benign 0.01
IGL01148:Osbpl8 APN 10 111,112,424 (GRCm39) splice site probably benign
IGL01338:Osbpl8 APN 10 111,103,608 (GRCm39) missense probably damaging 0.99
IGL01927:Osbpl8 APN 10 111,106,477 (GRCm39) missense probably benign 0.00
IGL02378:Osbpl8 APN 10 111,118,006 (GRCm39) missense possibly damaging 0.94
IGL02863:Osbpl8 APN 10 111,120,286 (GRCm39) splice site probably benign
IGL02933:Osbpl8 APN 10 111,117,991 (GRCm39) missense probably damaging 1.00
IGL03075:Osbpl8 APN 10 111,127,417 (GRCm39) missense probably benign 0.01
R0388:Osbpl8 UTSW 10 111,108,143 (GRCm39) missense probably benign
R0725:Osbpl8 UTSW 10 111,122,101 (GRCm39) missense possibly damaging 0.64
R1353:Osbpl8 UTSW 10 111,112,340 (GRCm39) missense probably damaging 0.97
R1434:Osbpl8 UTSW 10 111,127,442 (GRCm39) missense probably benign 0.01
R1803:Osbpl8 UTSW 10 111,110,910 (GRCm39) missense probably damaging 1.00
R1939:Osbpl8 UTSW 10 111,125,672 (GRCm39) missense probably benign 0.19
R2847:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R2848:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R2849:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R2879:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R2935:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R3693:Osbpl8 UTSW 10 111,105,297 (GRCm39) missense probably benign 0.27
R4088:Osbpl8 UTSW 10 111,125,651 (GRCm39) missense possibly damaging 0.52
R4374:Osbpl8 UTSW 10 111,105,280 (GRCm39) missense possibly damaging 0.93
R4376:Osbpl8 UTSW 10 111,105,280 (GRCm39) missense possibly damaging 0.93
R4377:Osbpl8 UTSW 10 111,105,280 (GRCm39) missense possibly damaging 0.93
R4621:Osbpl8 UTSW 10 111,105,279 (GRCm39) missense probably benign 0.01
R4622:Osbpl8 UTSW 10 111,127,357 (GRCm39) missense probably benign 0.00
R4851:Osbpl8 UTSW 10 111,040,661 (GRCm39) start codon destroyed probably null 0.00
R5134:Osbpl8 UTSW 10 111,124,554 (GRCm39) missense probably benign 0.28
R5179:Osbpl8 UTSW 10 111,108,025 (GRCm39) missense probably benign 0.01
R5309:Osbpl8 UTSW 10 111,106,418 (GRCm39) missense probably benign 0.00
R5590:Osbpl8 UTSW 10 111,108,029 (GRCm39) missense probably damaging 0.98
R5783:Osbpl8 UTSW 10 111,103,644 (GRCm39) nonsense probably null
R6293:Osbpl8 UTSW 10 111,108,099 (GRCm39) missense possibly damaging 0.96
R6362:Osbpl8 UTSW 10 111,108,929 (GRCm39) nonsense probably null
R6527:Osbpl8 UTSW 10 111,129,066 (GRCm39) missense probably benign 0.23
R6751:Osbpl8 UTSW 10 111,110,874 (GRCm39) missense possibly damaging 0.67
R6851:Osbpl8 UTSW 10 111,106,479 (GRCm39) nonsense probably null
R6955:Osbpl8 UTSW 10 111,105,305 (GRCm39) critical splice donor site probably null
R7224:Osbpl8 UTSW 10 111,110,872 (GRCm39) missense possibly damaging 0.94
R7235:Osbpl8 UTSW 10 111,105,288 (GRCm39) missense probably benign
R7685:Osbpl8 UTSW 10 111,112,370 (GRCm39) nonsense probably null
R7988:Osbpl8 UTSW 10 111,107,941 (GRCm39) missense possibly damaging 0.67
R8055:Osbpl8 UTSW 10 111,120,255 (GRCm39) missense possibly damaging 0.68
R8458:Osbpl8 UTSW 10 111,113,177 (GRCm39) missense possibly damaging 0.81
R8777:Osbpl8 UTSW 10 111,128,974 (GRCm39) missense probably benign 0.01
R8777-TAIL:Osbpl8 UTSW 10 111,128,974 (GRCm39) missense probably benign 0.01
R8844:Osbpl8 UTSW 10 111,112,336 (GRCm39) missense probably damaging 1.00
R8948:Osbpl8 UTSW 10 111,103,530 (GRCm39) missense probably damaging 0.97
R8954:Osbpl8 UTSW 10 111,108,053 (GRCm39) missense probably benign 0.02
R8997:Osbpl8 UTSW 10 111,091,575 (GRCm39) missense probably benign 0.01
R9236:Osbpl8 UTSW 10 111,106,496 (GRCm39) missense probably benign 0.01
R9249:Osbpl8 UTSW 10 111,122,012 (GRCm39) missense probably benign 0.02
R9380:Osbpl8 UTSW 10 111,108,980 (GRCm39) missense probably damaging 0.99
R9394:Osbpl8 UTSW 10 111,127,375 (GRCm39) nonsense probably null
R9595:Osbpl8 UTSW 10 111,108,909 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGCAGTTACCATGAAATTGCAAAG -3'
(R):5'- TGTCCTGCTCTAGAATGTTCAATG -3'

Sequencing Primer
(F):5'- ACCATGAAATTGCAAAGTTTGTC -3'
(R):5'- CTGCTCTAGAATGTTCAATGCTTATC -3'
Posted On 2019-12-04