Incidental Mutation 'R9694:Osbpl1a'
ID 735990
Institutional Source Beutler Lab
Gene Symbol Osbpl1a
Ensembl Gene ENSMUSG00000044252
Gene Name oxysterol binding protein-like 1A
Synonyms G430090F17Rik, LOC328902
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R9694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 12888371-13074898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12952565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 533 (H533R)
Ref Sequence ENSEMBL: ENSMUSP00000073957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074352] [ENSMUST00000117361] [ENSMUST00000118313] [ENSMUST00000119043] [ENSMUST00000119512] [ENSMUST00000121774] [ENSMUST00000121808] [ENSMUST00000121888] [ENSMUST00000124570] [ENSMUST00000143077] [ENSMUST00000155650]
AlphaFold Q91XL9
Predicted Effect probably benign
Transcript: ENSMUST00000074352
AA Change: H533R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
AA Change: H533R

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: ENSMUST00000117361
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118313
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119043
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119512
AA Change: H141R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
AA Change: H141R

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
SMART Domains Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 8 401 4e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121808
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121888
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 428 5.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124570
Predicted Effect probably benign
Transcript: ENSMUST00000143077
AA Change: H20R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122967
Gene: ENSMUSG00000044252
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Oxysterol_BP 35 184 3.5e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155650
AA Change: H116R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120439
Gene: ENSMUSG00000044252
AA Change: H116R

DomainStartEndE-ValueType
coiled coil region 13 46 N/A INTRINSIC
Pfam:Oxysterol_BP 131 187 1.3e-23 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.7%
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. 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,899,573 (GRCm39) Y948N probably damaging Het
Adamts2 A G 11: 50,558,972 (GRCm39) D229G probably benign Het
Adamts4 T C 1: 171,081,530 (GRCm39) S395P probably benign Het
Adcy1 T C 11: 7,094,774 (GRCm39) Y567H probably damaging Het
Agap3 A G 5: 24,682,139 (GRCm39) N212D probably benign Het
Atp2a2 A G 5: 122,597,708 (GRCm39) F775S probably damaging Het
Baz1b A T 5: 135,273,094 (GRCm39) Q1406L probably benign Het
C030006K11Rik A T 15: 76,607,928 (GRCm39) V30D possibly damaging Het
Cep170b T A 12: 112,701,993 (GRCm39) V262E probably damaging Het
Cgnl1 C T 9: 71,632,803 (GRCm39) G183R probably benign Het
Chd8 A G 14: 52,441,341 (GRCm39) I2257T possibly damaging Het
Chrna7 A G 7: 62,754,809 (GRCm39) I266T probably damaging Het
Cyp3a25 A T 5: 145,923,685 (GRCm39) Y319* probably null Het
Dcdc2a A T 13: 25,286,340 (GRCm39) I125F probably benign Het
Dcdc2c A T 12: 28,585,553 (GRCm39) I80N Het
Dmtn T C 14: 70,852,732 (GRCm39) probably null Het
Dock2 T C 11: 34,218,054 (GRCm39) N1172S probably benign Het
Dock9 A G 14: 121,818,791 (GRCm39) S1564P probably damaging Het
Ecel1 T C 1: 87,080,853 (GRCm39) I350V possibly damaging Het
Eif4enif1 C T 11: 3,170,384 (GRCm39) L146F probably damaging Het
Ergic1 T G 17: 26,843,585 (GRCm39) D59E probably benign Het
F2rl2 A T 13: 95,838,050 (GRCm39) D365V possibly damaging Het
Fbxl16 C T 17: 26,036,813 (GRCm39) Q265* probably null Het
Fbxw26 T C 9: 109,575,135 (GRCm39) probably benign Het
Fras1 A T 5: 96,929,545 (GRCm39) Y3983F probably benign Het
G6pd2 T A 5: 61,966,460 (GRCm39) D78E probably benign Het
Gas2l2 A C 11: 83,314,170 (GRCm39) S381A possibly damaging Het
Gm57858 A G 3: 36,073,092 (GRCm39) S397P possibly damaging Het
Grk2 G A 19: 4,338,511 (GRCm39) R474C probably damaging Het
Gxylt2 T A 6: 100,710,174 (GRCm39) V105E probably benign Het
Hexd T C 11: 121,107,813 (GRCm39) V181A probably damaging Het
Ift70a2 T C 2: 75,807,691 (GRCm39) T274A probably benign Het
Ik T A 18: 36,877,840 (GRCm39) D5E probably benign Het
Ilkap A G 1: 91,303,973 (GRCm39) C163R Het
Itpr3 C T 17: 27,334,927 (GRCm39) T2147I probably damaging Het
Kif1a A T 1: 92,950,173 (GRCm39) V1418E probably benign Het
Kif26b T C 1: 178,743,815 (GRCm39) C1304R probably benign Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lvrn A T 18: 47,033,609 (GRCm39) D940V probably damaging Het
Mill1 G A 7: 17,997,027 (GRCm39) R206H probably benign Het
Mrgpra1 A T 7: 46,985,268 (GRCm39) L137Q probably damaging Het
Npc2 C A 12: 84,807,638 (GRCm39) L73F probably benign Het
Or11g26 A G 14: 50,752,669 (GRCm39) T3A probably benign Het
Or52i2 A T 7: 102,320,011 (GRCm39) I295F possibly damaging Het
Or5al1 T C 2: 85,990,681 (GRCm39) E11G probably benign Het
Or5b97 A T 19: 12,879,021 (GRCm39) V41E probably damaging Het
Or5j3 T C 2: 86,128,718 (GRCm39) I186T probably benign Het
Pax7 G A 4: 139,556,819 (GRCm39) T147M probably benign Het
Pdik1l A T 4: 134,006,711 (GRCm39) S143T unknown Het
Prkg1 T G 19: 30,764,371 (GRCm39) T255P possibly damaging Het
Prmt2 A T 10: 76,061,213 (GRCm39) I91N probably damaging Het
Ptprm A G 17: 67,116,484 (GRCm39) Y932H probably damaging Het
Ptprz1 A T 6: 22,959,694 (GRCm39) I64F probably damaging Het
Qrich2 T C 11: 116,337,946 (GRCm39) K154R probably damaging Het
Rab8b T C 9: 66,826,824 (GRCm39) D31G probably benign Het
Radil A G 5: 142,473,378 (GRCm39) S768P probably damaging Het
Rbm5 A T 9: 107,622,152 (GRCm39) D607E probably benign Het
Reep6 T A 10: 80,169,393 (GRCm39) V131E probably damaging Het
Rrbp1 T A 2: 143,832,099 (GRCm39) I23F probably damaging Het
Rubcn A T 16: 32,663,481 (GRCm39) V385D probably benign Het
Sall2 C T 14: 52,552,124 (GRCm39) G357D possibly damaging Het
Slc12a6 T A 2: 112,174,881 (GRCm39) L547H probably damaging Het
Slc16a6 T C 11: 109,354,322 (GRCm39) T100A probably benign Het
Sptbn2 T C 19: 4,800,535 (GRCm39) L2250P probably damaging Het
Stab1 C T 14: 30,876,901 (GRCm39) A808T probably benign Het
Stag1 A G 9: 100,810,151 (GRCm39) T785A probably benign Het
Stambpl1 T G 19: 34,211,535 (GRCm39) S199A probably benign Het
Styxl2 A T 1: 165,928,654 (GRCm39) S319R probably damaging Het
Supt20 C T 3: 54,623,015 (GRCm39) S496L probably benign Het
Tanc1 T C 2: 59,626,196 (GRCm39) F518L probably damaging Het
Tdpoz3 T A 3: 93,734,156 (GRCm39) V277D probably benign Het
Unc45a A C 7: 79,975,403 (GRCm39) Y934D probably damaging Het
Vmn1r192 G A 13: 22,372,119 (GRCm39) P34S probably benign Het
Wipf3 T C 6: 54,466,004 (GRCm39) S421P possibly damaging Het
Zfp296 A G 7: 19,314,227 (GRCm39) K361E possibly damaging Het
Zfp882 T A 8: 72,667,915 (GRCm39) N247K probably benign Het
Zfpm2 A G 15: 40,965,710 (GRCm39) T732A 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
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
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
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'- ACACTTCCTGAAAGCCTGG -3'
(R):5'- ACATTCATCATGAGCCCGCTC -3'

Sequencing Primer
(F):5'- TAGCTCTGCCTCTGAACATACAGG -3'
(R):5'- TCTGCCACAGGTTCCGAGTC -3'
Posted On 2022-11-14