Incidental Mutation 'R3793:Slco1b2'
ID 272647
Institutional Source Beutler Lab
Gene Symbol Slco1b2
Ensembl Gene ENSMUSG00000030236
Gene Name solute carrier organic anion transporter family, member 1b2
Synonyms Slc21a6, Oatp1b2, 7330442B20Rik, mlst-1, Slc21a10
MMRRC Submission 040755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3793 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 141575244-141632372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141622033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 531 (Y531C)
Ref Sequence ENSEMBL: ENSMUSP00000044326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
AlphaFold Q9JJL3
Predicted Effect probably damaging
Transcript: ENSMUST00000042812
AA Change: Y531C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: Y531C

DomainStartEndE-ValueType
Pfam:MFS_1 27 443 6.1e-21 PFAM
KAZAL 457 501 8.81e-4 SMART
transmembrane domain 620 642 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160179
Predicted Effect probably damaging
Transcript: ENSMUST00000203597
AA Change: Y496C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: Y496C

DomainStartEndE-ValueType
Pfam:MFS_1 27 405 8.4e-19 PFAM
KAZAL 422 466 5.7e-6 SMART
transmembrane domain 497 519 N/A INTRINSIC
transmembrane domain 534 556 N/A INTRINSIC
transmembrane domain 585 607 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,889 (GRCm39) T35A probably benign Het
Arhgap32 T A 9: 32,166,669 (GRCm39) S435R probably damaging Het
Asic1 A T 15: 99,569,906 (GRCm39) K76* probably null Het
B9d1 A G 11: 61,398,448 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,876 (GRCm39) V207A possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cnfn T C 7: 25,067,805 (GRCm39) N45S probably benign Het
Col14a1 G T 15: 55,226,909 (GRCm39) D220Y unknown Het
Csn1s1 T A 5: 87,828,702 (GRCm39) Y274* probably null Het
Cyp2c69 T C 19: 39,869,600 (GRCm39) T140A probably benign Het
Dlg2 A T 7: 91,459,743 (GRCm39) probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
Ift172 C T 5: 31,414,925 (GRCm39) D1366N possibly damaging Het
Itga4 A G 2: 79,109,472 (GRCm39) T224A probably benign Het
Itprid1 A T 6: 55,952,588 (GRCm39) M844L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt71 C T 15: 101,651,345 (GRCm39) S46N probably damaging Het
Lhx1 A G 11: 84,412,726 (GRCm39) S65P probably benign Het
Lingo4 A G 3: 94,309,685 (GRCm39) S208G probably benign Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Nfrkb A T 9: 31,321,228 (GRCm39) probably benign Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Nlrp14 A T 7: 106,781,481 (GRCm39) Q226L probably benign Het
Ocln T C 13: 100,635,402 (GRCm39) R496G possibly damaging Het
Or2b2b T C 13: 21,859,153 (GRCm39) probably null Het
Or7e173 T A 9: 19,938,359 (GRCm39) I292F probably damaging Het
Osgepl1 T C 1: 53,359,406 (GRCm39) I305T probably damaging Het
Ovgp1 A G 3: 105,887,487 (GRCm39) N266S probably benign Het
Per1 A G 11: 69,000,127 (GRCm39) E1273G probably benign Het
Plch1 A G 3: 63,605,252 (GRCm39) Y1542H probably damaging Het
Pold1 A G 7: 44,190,994 (GRCm39) F252L probably damaging Het
Ptk2b A T 14: 66,407,700 (GRCm39) D607E probably damaging Het
Sdf4 T A 4: 156,086,916 (GRCm39) probably null Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Tmem200a A T 10: 25,870,087 (GRCm39) S61T probably damaging Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Uba2 A C 7: 33,845,722 (GRCm39) V467G probably damaging Het
Ubr3 T C 2: 69,747,525 (GRCm39) S263P possibly damaging Het
Ugt2b35 A G 5: 87,149,465 (GRCm39) T239A probably benign Het
Wac T C 18: 7,920,190 (GRCm39) V348A possibly damaging Het
Wdr3 A T 3: 100,059,281 (GRCm39) M346K probably benign Het
Zfp607a A T 7: 27,578,331 (GRCm39) H467L probably benign Het
Other mutations in Slco1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Slco1b2 APN 6 141,601,078 (GRCm39) missense probably damaging 0.99
IGL01583:Slco1b2 APN 6 141,609,398 (GRCm39) missense possibly damaging 0.85
IGL01909:Slco1b2 APN 6 141,594,312 (GRCm39) missense probably damaging 1.00
IGL01943:Slco1b2 APN 6 141,622,012 (GRCm39) missense possibly damaging 0.71
IGL01952:Slco1b2 APN 6 141,616,956 (GRCm39) missense probably benign 0.01
IGL02186:Slco1b2 APN 6 141,580,271 (GRCm39) splice site probably benign
IGL02309:Slco1b2 APN 6 141,618,007 (GRCm39) missense probably damaging 1.00
IGL02352:Slco1b2 APN 6 141,631,251 (GRCm39) missense probably damaging 0.96
IGL02359:Slco1b2 APN 6 141,631,251 (GRCm39) missense probably damaging 0.96
IGL02524:Slco1b2 APN 6 141,616,798 (GRCm39) missense probably benign 0.03
IGL02701:Slco1b2 APN 6 141,631,271 (GRCm39) missense probably benign 0.35
IGL02962:Slco1b2 APN 6 141,594,279 (GRCm39) missense probably damaging 0.99
3-1:Slco1b2 UTSW 6 141,615,189 (GRCm39) missense probably benign 0.01
IGL03052:Slco1b2 UTSW 6 141,594,311 (GRCm39) missense probably benign 0.13
R0112:Slco1b2 UTSW 6 141,616,837 (GRCm39) missense probably benign 0.30
R0116:Slco1b2 UTSW 6 141,615,114 (GRCm39) missense probably benign 0.22
R0515:Slco1b2 UTSW 6 141,615,136 (GRCm39) missense possibly damaging 0.74
R0831:Slco1b2 UTSW 6 141,631,172 (GRCm39) missense probably benign 0.01
R0965:Slco1b2 UTSW 6 141,631,322 (GRCm39) missense probably damaging 1.00
R1115:Slco1b2 UTSW 6 141,628,980 (GRCm39) missense probably benign 0.03
R1452:Slco1b2 UTSW 6 141,617,926 (GRCm39) missense probably benign 0.02
R1630:Slco1b2 UTSW 6 141,602,547 (GRCm39) missense probably damaging 0.99
R1885:Slco1b2 UTSW 6 141,628,951 (GRCm39) missense probably damaging 0.96
R1886:Slco1b2 UTSW 6 141,628,951 (GRCm39) missense probably damaging 0.96
R1975:Slco1b2 UTSW 6 141,628,951 (GRCm39) missense probably damaging 0.96
R2394:Slco1b2 UTSW 6 141,615,100 (GRCm39) missense probably damaging 0.99
R3408:Slco1b2 UTSW 6 141,621,982 (GRCm39) missense probably benign 0.01
R4560:Slco1b2 UTSW 6 141,616,893 (GRCm39) missense probably benign 0.15
R4561:Slco1b2 UTSW 6 141,616,893 (GRCm39) missense probably benign 0.15
R4563:Slco1b2 UTSW 6 141,616,893 (GRCm39) missense probably benign 0.15
R4807:Slco1b2 UTSW 6 141,615,195 (GRCm39) missense probably damaging 1.00
R4820:Slco1b2 UTSW 6 141,631,158 (GRCm39) missense probably benign 0.05
R4861:Slco1b2 UTSW 6 141,616,948 (GRCm39) missense possibly damaging 0.95
R4861:Slco1b2 UTSW 6 141,616,948 (GRCm39) missense possibly damaging 0.95
R4889:Slco1b2 UTSW 6 141,602,469 (GRCm39) intron probably benign
R4914:Slco1b2 UTSW 6 141,615,096 (GRCm39) missense probably benign 0.14
R4918:Slco1b2 UTSW 6 141,615,096 (GRCm39) missense probably benign 0.14
R4977:Slco1b2 UTSW 6 141,603,283 (GRCm39) missense probably benign 0.01
R5607:Slco1b2 UTSW 6 141,631,312 (GRCm39) missense probably benign
R6082:Slco1b2 UTSW 6 141,609,396 (GRCm39) missense probably benign 0.08
R6118:Slco1b2 UTSW 6 141,603,236 (GRCm39) missense probably benign 0.03
R6522:Slco1b2 UTSW 6 141,601,145 (GRCm39) critical splice donor site probably null
R7054:Slco1b2 UTSW 6 141,617,974 (GRCm39) missense probably damaging 1.00
R7182:Slco1b2 UTSW 6 141,602,656 (GRCm39) missense probably damaging 1.00
R7763:Slco1b2 UTSW 6 141,621,950 (GRCm39) nonsense probably null
R8891:Slco1b2 UTSW 6 141,628,993 (GRCm39) missense probably benign 0.34
R8977:Slco1b2 UTSW 6 141,628,980 (GRCm39) missense probably benign
R9012:Slco1b2 UTSW 6 141,602,554 (GRCm39) missense probably damaging 1.00
R9106:Slco1b2 UTSW 6 141,617,974 (GRCm39) missense probably damaging 1.00
R9176:Slco1b2 UTSW 6 141,598,229 (GRCm39) missense probably damaging 1.00
R9366:Slco1b2 UTSW 6 141,602,552 (GRCm39) nonsense probably null
R9425:Slco1b2 UTSW 6 141,603,249 (GRCm39) missense possibly damaging 0.67
R9648:Slco1b2 UTSW 6 141,602,655 (GRCm39) missense possibly damaging 0.84
R9652:Slco1b2 UTSW 6 141,594,358 (GRCm39) critical splice donor site probably null
R9798:Slco1b2 UTSW 6 141,601,079 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTGCTAGAAAGGAAGAACCC -3'
(R):5'- GACAGATGATCTAGATTCCACAGTG -3'

Sequencing Primer
(F):5'- CTATACCATCTCAAACCCTG -3'
(R):5'- AGGGACTTGATGACTGATTCCAG -3'
Posted On 2015-03-25