Incidental Mutation 'R6030:Osbpl7'
ID 486219
Institutional Source Beutler Lab
Gene Symbol Osbpl7
Ensembl Gene ENSMUSG00000038534
Gene Name oxysterol binding protein-like 7
Synonyms 4933437E18Rik
MMRRC Submission 044202-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96941459-96959730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96943087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 113 (H113P)
Ref Sequence ENSEMBL: ENSMUSP00000087474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000054252] [ENSMUST00000090020] [ENSMUST00000168565]
AlphaFold A2A716
Predicted Effect probably benign
Transcript: ENSMUST00000001485
SMART Domains Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054252
SMART Domains Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090020
AA Change: H113P

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: H113P

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
PH 174 270 7.76e-11 SMART
low complexity region 533 551 N/A INTRINSIC
Pfam:Oxysterol_BP 599 947 4.6e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154084
Predicted Effect probably benign
Transcript: ENSMUST00000168565
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 the same isoform have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null Het
Other mutations in Osbpl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Osbpl7 APN 11 96,943,126 (GRCm39) missense probably benign 0.00
IGL02041:Osbpl7 APN 11 96,951,334 (GRCm39) missense probably benign 0.08
IGL02322:Osbpl7 APN 11 96,946,950 (GRCm39) missense probably benign 0.18
IGL02396:Osbpl7 APN 11 96,946,377 (GRCm39) missense probably damaging 1.00
IGL02441:Osbpl7 APN 11 96,958,528 (GRCm39) missense probably damaging 1.00
IGL02668:Osbpl7 APN 11 96,958,031 (GRCm39) missense possibly damaging 0.90
IGL03003:Osbpl7 APN 11 96,941,521 (GRCm39) missense probably benign
R0377:Osbpl7 UTSW 11 96,946,760 (GRCm39) missense probably damaging 0.99
R0549:Osbpl7 UTSW 11 96,958,368 (GRCm39) missense probably damaging 1.00
R0848:Osbpl7 UTSW 11 96,951,350 (GRCm39) missense probably damaging 1.00
R0919:Osbpl7 UTSW 11 96,946,927 (GRCm39) missense possibly damaging 0.92
R1845:Osbpl7 UTSW 11 96,949,954 (GRCm39) missense probably damaging 1.00
R2119:Osbpl7 UTSW 11 96,946,905 (GRCm39) missense probably benign 0.02
R2418:Osbpl7 UTSW 11 96,950,004 (GRCm39) missense probably benign 0.00
R2571:Osbpl7 UTSW 11 96,945,667 (GRCm39) missense probably damaging 1.00
R3746:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3747:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R3749:Osbpl7 UTSW 11 96,946,879 (GRCm39) missense probably damaging 1.00
R4590:Osbpl7 UTSW 11 96,947,098 (GRCm39) missense probably damaging 1.00
R4602:Osbpl7 UTSW 11 96,947,095 (GRCm39) missense possibly damaging 0.77
R4857:Osbpl7 UTSW 11 96,947,495 (GRCm39) intron probably benign
R4898:Osbpl7 UTSW 11 96,950,976 (GRCm39) missense probably damaging 0.98
R5160:Osbpl7 UTSW 11 96,945,382 (GRCm39) missense probably damaging 1.00
R5292:Osbpl7 UTSW 11 96,958,779 (GRCm39) missense probably benign 0.07
R5685:Osbpl7 UTSW 11 96,951,103 (GRCm39) missense probably damaging 1.00
R5786:Osbpl7 UTSW 11 96,956,658 (GRCm39) missense probably damaging 1.00
R6030:Osbpl7 UTSW 11 96,943,087 (GRCm39) missense probably benign 0.15
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6038:Osbpl7 UTSW 11 96,941,542 (GRCm39) missense probably benign
R6239:Osbpl7 UTSW 11 96,943,650 (GRCm39) critical splice donor site probably null
R6715:Osbpl7 UTSW 11 96,945,425 (GRCm39) missense probably damaging 1.00
R6920:Osbpl7 UTSW 11 96,941,584 (GRCm39) missense probably damaging 0.99
R7179:Osbpl7 UTSW 11 96,941,662 (GRCm39) missense probably benign 0.05
R7222:Osbpl7 UTSW 11 96,951,364 (GRCm39) missense probably damaging 1.00
R7413:Osbpl7 UTSW 11 96,945,704 (GRCm39) critical splice donor site probably null
R7773:Osbpl7 UTSW 11 96,941,548 (GRCm39) missense probably benign
R7806:Osbpl7 UTSW 11 96,946,954 (GRCm39) missense probably benign 0.01
R7884:Osbpl7 UTSW 11 96,951,283 (GRCm39) missense possibly damaging 0.72
R8169:Osbpl7 UTSW 11 96,945,676 (GRCm39) missense probably damaging 1.00
R8289:Osbpl7 UTSW 11 96,947,405 (GRCm39) missense probably benign 0.08
R8341:Osbpl7 UTSW 11 96,950,989 (GRCm39) missense probably damaging 1.00
R8735:Osbpl7 UTSW 11 96,943,194 (GRCm39) missense probably benign
R8738:Osbpl7 UTSW 11 96,946,903 (GRCm39) missense possibly damaging 0.66
X0020:Osbpl7 UTSW 11 96,947,385 (GRCm39) missense probably benign 0.01
X0060:Osbpl7 UTSW 11 96,951,336 (GRCm39) nonsense probably null
X0062:Osbpl7 UTSW 11 96,956,469 (GRCm39) missense probably damaging 0.98
Z1176:Osbpl7 UTSW 11 96,950,979 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGAGTGTTTCCTGGATTCC -3'
(R):5'- AGGCCTGAAGTCCAGAGTAG -3'

Sequencing Primer
(F):5'- ATTGGGTGCAGTGGCCAC -3'
(R):5'- AGTTGCTGAGGCCACTGCTAC -3'
Posted On 2017-08-16