Incidental Mutation 'R0370:Slco2b1'
ID 30428
Institutional Source Beutler Lab
Gene Symbol Slco2b1
Ensembl Gene ENSMUSG00000030737
Gene Name solute carrier organic anion transporter family, member 2b1
Synonyms OATP-B, Slc21a9
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0370 (G1)
Quality Score 217
Status Not validated
Chromosome 7
Chromosomal Location 99307011-99360547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99339644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 100 (N100Y)
Ref Sequence ENSEMBL: ENSMUSP00000146717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088] [ENSMUST00000137914] [ENSMUST00000145381] [ENSMUST00000207090] [ENSMUST00000208225]
AlphaFold Q8BXB6
Predicted Effect probably damaging
Transcript: ENSMUST00000032985
AA Change: N86Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: N86Y

DomainStartEndE-ValueType
Pfam:OATP 40 637 9.3e-189 PFAM
Pfam:MFS_1 44 468 1.9e-17 PFAM
transmembrane domain 640 662 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107086
AA Change: N86Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: N86Y

DomainStartEndE-ValueType
Pfam:OATP 40 637 9.3e-189 PFAM
Pfam:MFS_1 44 468 1.9e-17 PFAM
transmembrane domain 640 662 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107088
AA Change: N96Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: N96Y

DomainStartEndE-ValueType
Pfam:OATP 52 646 3.6e-182 PFAM
Pfam:MFS_1 53 476 2e-17 PFAM
transmembrane domain 650 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137914
SMART Domains Protein: ENSMUSP00000115872
Gene: ENSMUSG00000030737

DomainStartEndE-ValueType
Pfam:OATP 54 85 3.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145381
AA Change: N100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123439
Gene: ENSMUSG00000030737
AA Change: N100Y

DomainStartEndE-ValueType
Pfam:OATP 54 150 6.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207090
Predicted Effect unknown
Transcript: ENSMUST00000208713
AA Change: N49Y
Predicted Effect probably damaging
Transcript: ENSMUST00000208225
AA Change: N100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208250
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Slco2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Slco2b1 APN 7 99,309,259 (GRCm39) nonsense probably null
IGL00469:Slco2b1 APN 7 99,309,318 (GRCm39) missense probably benign 0.21
IGL02625:Slco2b1 APN 7 99,309,330 (GRCm39) splice site probably null
IGL03164:Slco2b1 APN 7 99,334,743 (GRCm39) missense probably damaging 0.97
3-1:Slco2b1 UTSW 7 99,334,700 (GRCm39) missense probably damaging 1.00
R0076:Slco2b1 UTSW 7 99,334,708 (GRCm39) nonsense probably null
R0469:Slco2b1 UTSW 7 99,310,743 (GRCm39) missense probably benign 0.30
R0510:Slco2b1 UTSW 7 99,310,743 (GRCm39) missense probably benign 0.30
R1456:Slco2b1 UTSW 7 99,314,114 (GRCm39) missense probably null
R1868:Slco2b1 UTSW 7 99,335,243 (GRCm39) missense probably damaging 1.00
R2046:Slco2b1 UTSW 7 99,339,686 (GRCm39) missense probably damaging 0.98
R4030:Slco2b1 UTSW 7 99,332,032 (GRCm39) missense probably damaging 1.00
R4166:Slco2b1 UTSW 7 99,309,333 (GRCm39) missense probably benign 0.30
R4406:Slco2b1 UTSW 7 99,314,096 (GRCm39) missense probably benign 0.22
R4643:Slco2b1 UTSW 7 99,316,214 (GRCm39) missense probably benign 0.00
R4770:Slco2b1 UTSW 7 99,320,156 (GRCm39) critical splice donor site probably null
R4927:Slco2b1 UTSW 7 99,335,195 (GRCm39) missense probably damaging 0.99
R5033:Slco2b1 UTSW 7 99,309,256 (GRCm39) missense probably benign 0.14
R5166:Slco2b1 UTSW 7 99,338,220 (GRCm39) missense possibly damaging 0.50
R5306:Slco2b1 UTSW 7 99,338,198 (GRCm39) missense possibly damaging 0.79
R5358:Slco2b1 UTSW 7 99,309,251 (GRCm39) missense unknown
R5389:Slco2b1 UTSW 7 99,335,132 (GRCm39) missense probably damaging 0.98
R5874:Slco2b1 UTSW 7 99,316,301 (GRCm39) missense probably benign
R6151:Slco2b1 UTSW 7 99,339,770 (GRCm39) missense possibly damaging 0.46
R6163:Slco2b1 UTSW 7 99,338,106 (GRCm39) missense probably damaging 1.00
R6192:Slco2b1 UTSW 7 99,334,779 (GRCm39) missense probably damaging 1.00
R6489:Slco2b1 UTSW 7 99,339,762 (GRCm39) nonsense probably null
R6651:Slco2b1 UTSW 7 99,316,376 (GRCm39) missense probably benign 0.09
R7135:Slco2b1 UTSW 7 99,344,270 (GRCm39) missense probably null 0.03
R7322:Slco2b1 UTSW 7 99,341,055 (GRCm39) missense not run
R7353:Slco2b1 UTSW 7 99,339,764 (GRCm39) missense possibly damaging 0.77
R7474:Slco2b1 UTSW 7 99,314,039 (GRCm39) missense probably damaging 1.00
R7888:Slco2b1 UTSW 7 99,338,050 (GRCm39) missense unknown
R8121:Slco2b1 UTSW 7 99,334,760 (GRCm39) missense probably benign 0.00
R8751:Slco2b1 UTSW 7 99,309,259 (GRCm39) nonsense probably null
R9031:Slco2b1 UTSW 7 99,338,214 (GRCm39) missense probably damaging 1.00
R9068:Slco2b1 UTSW 7 99,320,171 (GRCm39) missense probably benign 0.17
R9725:Slco2b1 UTSW 7 99,335,265 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCACTCCAAGGTCAGTCAAAGGG -3'
(R):5'- CCATGACTTCTGATGGTGTCCGTTC -3'

Sequencing Primer
(F):5'- GTTCTCTAGCAAAGGGCTCCTAAG -3'
(R):5'- ATGGTGTCCGTTCACCTG -3'
Posted On 2013-04-24