Incidental Mutation 'R1452:Slco1b2'
ID 161069
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 039507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1452 (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 141617926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 424 (I424F)
Ref Sequence ENSEMBL: ENSMUSP00000144747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
AlphaFold Q9JJL3
Predicted Effect probably benign
Transcript: ENSMUST00000042812
AA Change: I459F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: I459F

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 probably benign
Transcript: ENSMUST00000203597
AA Change: I424F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: I424F

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or4c3d C T 2: 89,882,015 (GRCm39) V218I possibly damaging Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L 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
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
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'- AGCTTCCTAAGGCTATGCAGACCC -3'
(R):5'- TCTGATGGTTCCAAGCAGGATTTCG -3'

Sequencing Primer
(F):5'- ttcttttctctttcctttccttctg -3'
(R):5'- AAGCTTTGCTAACTTCCTGGTG -3'
Posted On 2014-03-14