Incidental Mutation 'R5245:Osbpl1a'
ID 401132
Institutional Source Beutler Lab
Gene Symbol Osbpl1a
Ensembl Gene ENSMUSG00000044252
Gene Name oxysterol binding protein-like 1A
Synonyms G430090F17Rik, LOC328902
MMRRC Submission 042816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5245 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 12888371-13074898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12891910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 466 (E466G)
Ref Sequence ENSEMBL: ENSMUSP00000113914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121888] [ENSMUST00000121808] [ENSMUST00000121018] [ENSMUST00000186263] [ENSMUST00000191078] [ENSMUST00000150758]
AlphaFold Q91XL9
Predicted Effect probably damaging
Transcript: ENSMUST00000074352
AA Change: E858G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: E858G

DomainStartEndE-ValueType
ANK 47 76 2.05e-6 SMART
ANK 80 109 1.29e-3 SMART
low complexity region 141 153 N/A INTRINSIC
ANK 175 204 1.31e-4 SMART
PH 236 336 6.02e-8 SMART
low complexity region 345 354 N/A INTRINSIC
coiled coil region 430 463 N/A INTRINSIC
Pfam:Oxysterol_BP 548 940 6.7e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080415
SMART Domains Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115857
SMART Domains Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.2e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117361
AA Change: E345G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: E345G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118313
AA Change: E345G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: E345G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119043
AA Change: E345G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: E345G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119108
SMART Domains Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 8.5e-13 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119512
AA Change: E466G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: E466G

DomainStartEndE-ValueType
coiled coil region 38 71 N/A INTRINSIC
Pfam:Oxysterol_BP 156 549 1.2e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121774
AA Change: E318G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: E318G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 8 401 4e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121888
AA Change: E345G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: E345G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121808
AA Change: E345G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: E345G

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145777
Predicted Effect probably benign
Transcript: ENSMUST00000121018
SMART Domains Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 6.7e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
low complexity region 213 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186263
SMART Domains Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191078
SMART Domains Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150758
SMART Domains Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430

DomainStartEndE-ValueType
Pfam:RIIa 12 46 2.3e-12 PFAM
low complexity region 77 96 N/A INTRINSIC
low complexity region 141 172 N/A INTRINSIC
Meta Mutation Damage Score 0.5036 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (51/51)
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. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17b T A 19: 21,661,624 (GRCm39) Y270* probably null Het
Akap9 A T 5: 4,026,209 (GRCm39) Q59L probably damaging Het
Aloxe3 A T 11: 69,020,502 (GRCm39) Q182L probably benign Het
Arhgef5 G T 6: 43,242,614 (GRCm39) probably benign Het
Bcas3 T A 11: 85,449,912 (GRCm39) N663K probably damaging Het
Cimap3 T C 3: 105,921,770 (GRCm39) H51R possibly damaging Het
Cntfr A T 4: 41,670,879 (GRCm39) W95R possibly damaging Het
Dcun1d4 A G 5: 73,714,657 (GRCm39) T275A probably benign Het
Eps8l1 A G 7: 4,473,873 (GRCm39) R227G probably damaging Het
Ets2 G A 16: 95,513,304 (GRCm39) W160* probably null Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fsip2 A G 2: 82,823,505 (GRCm39) M6413V probably benign Het
Gm14401 C T 2: 176,778,471 (GRCm39) P186S probably damaging Het
Hrc G A 7: 44,984,855 (GRCm39) G2D probably damaging Het
Kcnq3 A G 15: 65,903,284 (GRCm39) V142A possibly damaging Het
Lama3 G A 18: 12,552,950 (GRCm39) C454Y probably damaging Het
Lrrk2 A G 15: 91,680,292 (GRCm39) T2068A probably damaging Het
Mab21l2 T C 3: 86,454,799 (GRCm39) E67G possibly damaging Het
Map3k5 G A 10: 20,016,437 (GRCm39) V1343I probably benign Het
Mcm4 T A 16: 15,448,289 (GRCm39) T423S probably benign Het
Mmp16 A G 4: 18,054,596 (GRCm39) probably benign Het
Nat3 C T 8: 68,000,832 (GRCm39) T237I probably benign Het
Nol4 A T 18: 22,828,179 (GRCm39) *484R probably null Het
Nsmf A G 2: 24,946,119 (GRCm39) E202G probably damaging Het
Olfml2b T C 1: 170,496,443 (GRCm39) V358A probably benign Het
Or2v2 T A 11: 49,004,116 (GRCm39) I146F probably benign Het
Or4b1d T A 2: 89,968,606 (GRCm39) K292N probably damaging Het
Pim3 A G 15: 88,747,404 (GRCm39) E90G possibly damaging Het
Recql5 T C 11: 115,784,385 (GRCm39) E905G probably damaging Het
Rnf31 T G 14: 55,839,163 (GRCm39) L925R probably damaging Het
Secisbp2l A G 2: 125,589,511 (GRCm39) V679A probably damaging Het
Setdb2 T A 14: 59,663,943 (GRCm39) E68V probably null Het
Shtn1 T A 19: 59,020,652 (GRCm39) N190I possibly damaging Het
Slc25a25 G A 2: 32,311,340 (GRCm39) Q14* probably null Het
Snrnp27 A G 6: 86,659,941 (GRCm39) S18P unknown Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tbx5 T C 5: 120,021,230 (GRCm39) V412A possibly damaging Het
Tcea3 A G 4: 135,991,813 (GRCm39) T166A probably benign Het
Tdrp A T 8: 14,024,479 (GRCm39) probably benign Het
Tent5a G T 9: 85,208,401 (GRCm39) Q160K possibly damaging Het
Tmem132e T C 11: 82,333,464 (GRCm39) V624A probably damaging Het
Tnnt1 T C 7: 4,513,066 (GRCm39) D72G probably damaging Het
Trim80 C A 11: 115,332,398 (GRCm39) H197N probably damaging Het
Zfp322a A T 13: 23,541,156 (GRCm39) C195* probably null Het
Zfp335 A G 2: 164,736,678 (GRCm39) S986P probably benign Het
Other mutations in Osbpl1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Osbpl1a APN 18 12,890,683 (GRCm39) missense possibly damaging 0.51
IGL01062:Osbpl1a APN 18 13,038,132 (GRCm39) missense probably benign
IGL01450:Osbpl1a APN 18 13,004,152 (GRCm39) missense possibly damaging 0.88
IGL01531:Osbpl1a APN 18 13,066,638 (GRCm39) missense probably damaging 1.00
IGL01548:Osbpl1a APN 18 12,896,632 (GRCm39) missense probably damaging 1.00
IGL01606:Osbpl1a APN 18 12,889,271 (GRCm39) missense possibly damaging 0.79
IGL01672:Osbpl1a APN 18 12,899,881 (GRCm39) missense probably damaging 1.00
IGL02372:Osbpl1a APN 18 12,974,370 (GRCm39) nonsense probably null
IGL02451:Osbpl1a APN 18 13,047,550 (GRCm39) splice site probably benign
IGL02490:Osbpl1a APN 18 13,015,341 (GRCm39) unclassified probably benign
IGL02884:Osbpl1a APN 18 12,952,635 (GRCm39) nonsense probably null
R0084:Osbpl1a UTSW 18 12,890,669 (GRCm39) missense probably benign 0.07
R0266:Osbpl1a UTSW 18 13,004,220 (GRCm39) splice site probably null
R0565:Osbpl1a UTSW 18 12,892,501 (GRCm39) missense probably damaging 1.00
R0605:Osbpl1a UTSW 18 13,015,336 (GRCm39) critical splice acceptor site probably null
R0899:Osbpl1a UTSW 18 12,890,747 (GRCm39) missense possibly damaging 0.70
R1330:Osbpl1a UTSW 18 13,015,251 (GRCm39) critical splice donor site probably null
R1464:Osbpl1a UTSW 18 13,047,615 (GRCm39) missense probably benign
R1464:Osbpl1a UTSW 18 13,047,615 (GRCm39) missense probably benign
R1475:Osbpl1a UTSW 18 12,890,737 (GRCm39) missense probably damaging 1.00
R1495:Osbpl1a UTSW 18 12,891,896 (GRCm39) missense probably benign 0.08
R1734:Osbpl1a UTSW 18 12,921,373 (GRCm39) splice site probably null
R1930:Osbpl1a UTSW 18 13,038,251 (GRCm39) missense probably benign 0.04
R1931:Osbpl1a UTSW 18 13,038,251 (GRCm39) missense probably benign 0.04
R2109:Osbpl1a UTSW 18 12,892,457 (GRCm39) missense probably damaging 1.00
R2144:Osbpl1a UTSW 18 13,004,230 (GRCm39) missense probably benign 0.06
R2504:Osbpl1a UTSW 18 13,038,088 (GRCm39) missense probably benign 0.30
R2762:Osbpl1a UTSW 18 12,899,956 (GRCm39) missense possibly damaging 0.83
R2907:Osbpl1a UTSW 18 13,004,129 (GRCm39) unclassified probably benign
R4306:Osbpl1a UTSW 18 12,952,652 (GRCm39) missense probably benign
R4835:Osbpl1a UTSW 18 12,901,593 (GRCm39) critical splice donor site probably null
R5097:Osbpl1a UTSW 18 12,896,594 (GRCm39) missense probably damaging 1.00
R5173:Osbpl1a UTSW 18 12,895,697 (GRCm39) missense probably benign 0.12
R5224:Osbpl1a UTSW 18 13,066,753 (GRCm39) missense probably benign 0.01
R5579:Osbpl1a UTSW 18 13,025,319 (GRCm39) missense probably benign 0.22
R5579:Osbpl1a UTSW 18 12,974,249 (GRCm39) missense probably damaging 1.00
R5833:Osbpl1a UTSW 18 12,921,419 (GRCm39) missense probably damaging 1.00
R5986:Osbpl1a UTSW 18 13,038,138 (GRCm39) missense probably damaging 1.00
R6267:Osbpl1a UTSW 18 12,952,560 (GRCm39) critical splice donor site probably null
R6296:Osbpl1a UTSW 18 12,952,560 (GRCm39) critical splice donor site probably null
R6477:Osbpl1a UTSW 18 12,889,318 (GRCm39) missense probably benign 0.03
R6997:Osbpl1a UTSW 18 12,889,281 (GRCm39) missense probably benign 0.05
R7105:Osbpl1a UTSW 18 12,900,020 (GRCm39) missense probably benign 0.17
R7107:Osbpl1a UTSW 18 12,974,310 (GRCm39) nonsense probably null
R7154:Osbpl1a UTSW 18 12,901,649 (GRCm39) missense probably benign 0.00
R7459:Osbpl1a UTSW 18 13,066,642 (GRCm39) missense probably damaging 1.00
R7757:Osbpl1a UTSW 18 13,066,657 (GRCm39) missense probably benign 0.44
R7797:Osbpl1a UTSW 18 13,015,321 (GRCm39) missense probably damaging 0.99
R8029:Osbpl1a UTSW 18 13,047,578 (GRCm39) missense probably benign 0.01
R8084:Osbpl1a UTSW 18 13,038,099 (GRCm39) missense probably damaging 1.00
R8506:Osbpl1a UTSW 18 12,901,643 (GRCm39) missense probably benign 0.02
R8947:Osbpl1a UTSW 18 12,899,858 (GRCm39) critical splice donor site probably null
R9069:Osbpl1a UTSW 18 13,002,074 (GRCm39) intron probably benign
R9085:Osbpl1a UTSW 18 13,062,093 (GRCm39) missense probably damaging 1.00
R9288:Osbpl1a UTSW 18 12,904,402 (GRCm39) missense probably damaging 1.00
R9443:Osbpl1a UTSW 18 13,031,244 (GRCm39) missense probably benign 0.00
R9517:Osbpl1a UTSW 18 13,042,965 (GRCm39) missense probably benign
R9600:Osbpl1a UTSW 18 13,015,277 (GRCm39) missense probably benign 0.00
R9658:Osbpl1a UTSW 18 12,889,269 (GRCm39) missense probably benign 0.05
R9694:Osbpl1a UTSW 18 12,952,565 (GRCm39) missense probably benign 0.03
X0027:Osbpl1a UTSW 18 12,892,560 (GRCm39) missense possibly damaging 0.46
Z1177:Osbpl1a UTSW 18 13,039,980 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CAGTTAACAGAGGGAGAACCATTC -3'
(R):5'- TTTAGCAGTGTCCTCGGAGC -3'

Sequencing Primer
(F):5'- GGGTGATCTCAGATTTCCAAACG -3'
(R):5'- TCCTCGGAGCAAGGCTGAC -3'
Posted On 2016-07-06