Incidental Mutation 'R5685:Osbpl7'
ID 443300
Institutional Source Beutler Lab
Gene Symbol Osbpl7
Ensembl Gene ENSMUSG00000038534
Gene Name oxysterol binding protein-like 7
Synonyms 4933437E18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96941459-96959730 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96951103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 478 (P478H)
Ref Sequence ENSEMBL: ENSMUSP00000126902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090020] [ENSMUST00000168565]
AlphaFold A2A716
Predicted Effect probably damaging
Transcript: ENSMUST00000090020
AA Change: P650H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534
AA Change: P650H

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: ENSMUST00000142406
Predicted Effect probably damaging
Transcript: ENSMUST00000168565
AA Change: P478H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534
AA Change: P478H

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183945
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Hyal5 A G 6: 24,876,691 (GRCm39) K188R probably benign Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H probably damaging 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
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
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'- AGACTAAAATGTCGGCACTGGC -3'
(R):5'- AAGGCCAAGCTGAGTGTCAC -3'

Sequencing Primer
(F):5'- GATTGCTGTGGGACCTCCTC -3'
(R):5'- TGAGTGTCACCCGTGTAAAGC -3'
Posted On 2016-11-09