Incidental Mutation 'R1975:Slco1b2'
ID 221563
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 039988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1975 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 141575244-141632372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141628951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 551 (Y551F)
Ref Sequence ENSEMBL: ENSMUSP00000144747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
AlphaFold Q9JJL3
Predicted Effect probably damaging
Transcript: ENSMUST00000042812
AA Change: Y586F

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: Y586F

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: Y551F

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: Y551F

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 0.2566 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (71/74)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,322 (GRCm39) T429A probably benign Het
Afmid A C 11: 117,727,300 (GRCm39) I275L probably benign Het
Aimp1 A C 3: 132,382,860 (GRCm39) D5E possibly damaging Het
Aldob G A 4: 49,538,171 (GRCm39) A319V probably benign Het
Ankar C T 1: 72,697,600 (GRCm39) V1068I possibly damaging Het
Ccr2 C T 9: 123,906,830 (GRCm39) S370L probably benign Het
Chrnb4 A G 9: 54,942,102 (GRCm39) Y391H probably damaging Het
Clip1 A G 5: 123,761,281 (GRCm39) M873T possibly damaging Het
Cspg4 G C 9: 56,797,762 (GRCm39) G1409R probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dock4 T C 12: 40,829,641 (GRCm39) probably benign Het
Eml4 T C 17: 83,717,622 (GRCm39) S65P probably benign Het
Fblim1 A T 4: 141,312,175 (GRCm39) D183E probably damaging Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Gm973 A T 1: 59,601,930 (GRCm39) T515S possibly damaging Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Hipk3 T C 2: 104,301,518 (GRCm39) I225V probably benign Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Il15ra A G 2: 11,728,334 (GRCm39) T133A possibly damaging Het
Krt78 T C 15: 101,854,603 (GRCm39) *1069W probably null Het
Lama3 T A 18: 12,586,920 (GRCm39) M761K probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Macf1 T C 4: 123,383,005 (GRCm39) T1320A probably damaging Het
Mark3 A T 12: 111,581,875 (GRCm39) I115L probably damaging Het
Mcph1 T G 8: 18,739,081 (GRCm39) probably benign Het
Med23 T A 10: 24,786,664 (GRCm39) N923K probably benign Het
Msrb2 T G 2: 19,398,032 (GRCm39) Y97D probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Mylk T C 16: 34,700,673 (GRCm39) probably null Het
Nfrkb T A 9: 31,325,980 (GRCm39) V1141E possibly damaging Het
Obscn T C 11: 58,958,555 (GRCm39) E3675G probably damaging Het
Or11h7 T A 14: 50,890,821 (GRCm39) N42K probably damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Or2t6 A T 14: 14,175,446 (GRCm38) V212E probably damaging Het
Or51aa2 A T 7: 103,188,201 (GRCm39) F80Y probably damaging Het
Or52z14 A G 7: 103,253,219 (GRCm39) probably null Het
Or5ac21 T C 16: 59,124,091 (GRCm39) S193P probably damaging Het
Or8k21 C G 2: 86,145,498 (GRCm39) G44A probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pkhd1l1 G T 15: 44,393,109 (GRCm39) V1815F probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Psma8 T G 18: 14,864,033 (GRCm39) probably null Het
Rbl2 T C 8: 91,812,090 (GRCm39) S220P probably benign Het
Rere T A 4: 150,700,190 (GRCm39) D1091E probably damaging Het
Rpa1 A G 11: 75,197,002 (GRCm39) C540R probably damaging Het
Sema3d T A 5: 12,613,285 (GRCm39) V454E probably damaging Het
Sema3d T C 5: 12,634,965 (GRCm39) V677A probably benign Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sirpb1a T C 3: 15,444,141 (GRCm39) I370V probably benign Het
Slc22a19 A G 19: 7,661,224 (GRCm39) probably benign Het
Slc26a1 T A 5: 108,820,338 (GRCm39) D287V probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Slco2a1 T A 9: 102,956,653 (GRCm39) Y488* probably null Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Strn T C 17: 78,999,928 (GRCm39) probably null Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,032,838 (GRCm39) N192S possibly damaging Het
Tns3 T A 11: 8,385,738 (GRCm39) I1386F probably benign Het
Treml4 T A 17: 48,579,821 (GRCm39) V219E probably damaging Het
Triobp T C 15: 78,850,908 (GRCm39) V354A probably benign Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tub G A 7: 108,627,042 (GRCm39) G314R possibly damaging Het
Ube3b C T 5: 114,537,926 (GRCm39) T339M possibly damaging Het
Vmn2r43 A G 7: 8,258,550 (GRCm39) I221T possibly damaging Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Zfp110 C T 7: 12,582,429 (GRCm39) T359I probably benign Het
Zfp322a A T 13: 23,541,074 (GRCm39) C223S probably damaging Het
Zfp512b G A 2: 181,228,878 (GRCm39) R696* probably null 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
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
R3793:Slco1b2 UTSW 6 141,622,033 (GRCm39) missense probably damaging 1.00
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'- CACATCCAAAGGTGGTATAATATTTGG -3'
(R):5'- ATGAGATTGCCTGATACAATTCTG -3'

Sequencing Primer
(F):5'- CAGATTTTCATTCTTCAGTGTG -3'
(R):5'- TTATGGACACTACATACATGTGGGGC -3'
Posted On 2014-08-25