Incidental Mutation 'R0084:Osbpl1a'
ID 19830
Institutional Source Beutler Lab
Gene Symbol Osbpl1a
Ensembl Gene ENSMUSG00000044252
Gene Name oxysterol binding protein-like 1A
Synonyms G430090F17Rik, LOC328902
MMRRC Submission 038371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0084 (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 12890669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 524 (T524A)
Ref Sequence ENSEMBL: ENSMUSP00000113914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000080415] [ENSMUST00000115857] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119108] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000150758] [ENSMUST00000186263] [ENSMUST00000191078] [ENSMUST00000121018]
AlphaFold Q91XL9
Predicted Effect probably benign
Transcript: ENSMUST00000074352
AA Change: T916A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: T916A

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 benign
Transcript: ENSMUST00000117361
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: T403A

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118313
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: T403A

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119043
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: T403A

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 benign
Transcript: ENSMUST00000119512
AA Change: T524A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: T524A

DomainStartEndE-ValueType
coiled coil region 38 71 N/A INTRINSIC
Pfam:Oxysterol_BP 156 549 1.2e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121774
AA Change: T376A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
AA Change: T376A

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 8 401 4e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121808
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: T403A

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121888
AA Change: T403A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: T403A

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145777
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
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: 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
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.0%
Validation Efficiency 99% (77/78)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,927,423 (GRCm39) probably benign Het
Abcc9 A G 6: 142,604,277 (GRCm39) Y653H probably damaging Het
Acp3 A T 9: 104,191,564 (GRCm39) S241T probably benign Het
Acvr1 A G 2: 58,348,895 (GRCm39) probably null Het
Adgb T C 10: 10,272,088 (GRCm39) N832S possibly damaging Het
AI182371 A G 2: 34,975,714 (GRCm39) probably null Het
Anapc1 G A 2: 128,465,886 (GRCm39) probably benign Het
Apba1 T C 19: 23,889,861 (GRCm39) S420P possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bpifb2 A T 2: 153,733,011 (GRCm39) M365L probably benign Het
Btnl9 A T 11: 49,069,606 (GRCm39) N224K possibly damaging Het
Cntn1 A T 15: 92,215,798 (GRCm39) I944L probably benign Het
Cpa3 T C 3: 20,296,265 (GRCm39) probably benign Het
Dcaf11 C T 14: 55,806,700 (GRCm39) R468C probably benign Het
E4f1 T C 17: 24,663,056 (GRCm39) T750A possibly damaging Het
Ercc5 A G 1: 44,215,136 (GRCm39) K890E possibly damaging Het
Fbrsl1 A G 5: 110,527,381 (GRCm39) L262P probably damaging Het
Flnb A G 14: 7,935,979 (GRCm38) D2273G probably benign Het
Gm9848 A T 13: 113,244,776 (GRCm39) noncoding transcript Het
Hcrtr1 T A 4: 130,031,059 (GRCm39) H75L possibly damaging Het
Heatr9 A T 11: 83,403,721 (GRCm39) probably benign Het
Htatip2 G A 7: 49,409,420 (GRCm39) G58D probably damaging Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Lmntd1 G A 6: 145,350,254 (GRCm39) H234Y unknown Het
Ly6g2 T A 15: 75,089,624 (GRCm39) M44K probably benign Het
Map4k3 T C 17: 80,963,343 (GRCm39) K85E possibly damaging Het
Moxd2 T C 6: 40,856,342 (GRCm39) D510G probably null Het
Mpv17l2 A T 8: 71,217,190 (GRCm39) probably benign Het
Nbeal2 A G 9: 110,472,778 (GRCm39) probably null Het
Ncapd3 A G 9: 26,967,407 (GRCm39) D581G probably damaging Het
Ndufb5 T C 3: 32,791,352 (GRCm39) V33A probably benign Het
Or10a49 A T 7: 108,468,007 (GRCm39) M118K probably damaging Het
Otogl A C 10: 107,737,202 (GRCm39) S71A probably damaging Het
Ovol2 G T 2: 144,147,808 (GRCm39) N180K probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Paox C T 7: 139,712,359 (GRCm39) R197* probably null Het
Pax2 T A 19: 44,806,874 (GRCm39) Y290N probably damaging Het
Pik3ca T C 3: 32,516,937 (GRCm39) M933T possibly damaging Het
Ppfia4 G T 1: 134,227,164 (GRCm39) R1124S possibly damaging Het
Prkch T C 12: 73,744,761 (GRCm39) F258S possibly damaging Het
Rhob G A 12: 8,549,107 (GRCm39) R176C probably benign Het
Sbf2 A T 7: 110,041,573 (GRCm39) I326N possibly damaging Het
Scgb2b2 A T 7: 31,003,041 (GRCm39) E45D probably benign Het
Scube3 T A 17: 28,381,935 (GRCm39) D320E probably benign Het
Serpina1f A G 12: 103,659,847 (GRCm39) V145A possibly damaging Het
Slc28a2b A G 2: 122,353,314 (GRCm39) Y498C possibly damaging Het
Slc6a5 A C 7: 49,579,761 (GRCm39) I380L probably benign Het
Spag16 A G 1: 70,035,998 (GRCm39) N342S probably benign Het
Spata16 A G 3: 26,721,559 (GRCm39) T27A possibly damaging Het
Spock3 A C 8: 63,596,963 (GRCm39) K89T probably damaging Het
Tbc1d1 T C 5: 64,481,797 (GRCm39) V795A probably damaging Het
Tirap G T 9: 35,100,458 (GRCm39) H75Q probably benign Het
Tpk1 C A 6: 43,323,763 (GRCm39) V229L possibly damaging Het
Tshz2 A G 2: 169,726,286 (GRCm39) H294R probably damaging Het
Ttn A T 2: 76,703,043 (GRCm39) probably benign Het
Unc13d C T 11: 115,954,657 (GRCm39) V984M probably damaging Het
Zbtb43 A T 2: 33,343,996 (GRCm39) Y373N probably damaging Het
Zfp646 T A 7: 127,480,476 (GRCm39) H884Q possibly damaging 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
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
R5245:Osbpl1a UTSW 18 12,891,910 (GRCm39) missense probably damaging 1.00
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'- TGCAATCATAGCAGCCATCTGCC -3'
(R):5'- GTTACTGCTCTTAGTGCCATGCCTG -3'

Sequencing Primer
(F):5'- TAACCCCTGCGTTTGGAAAAG -3'
(R):5'- CGAATGTGTTTCCCATTGGC -3'
Posted On 2013-04-11