Incidental Mutation 'R0515:Slco1b2'
ID 48186
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 038709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 141575244-141632372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141615136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 347 (F347S)
Ref Sequence ENSEMBL: ENSMUSP00000144747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
AlphaFold Q9JJL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000042812
AA Change: F347S

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: F347S

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 possibly damaging
Transcript: ENSMUST00000203597
AA Change: F347S

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: F347S

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 0.6413 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A 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
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
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'- TGAAGAACTGCCAAGTATCCACTGAAC -3'
(R):5'- CCAAACCATGAAGTAGTCATGTCCTCC -3'

Sequencing Primer
(F):5'- CTGTTTATAGCAAGATTCAGAGTGC -3'
(R):5'- GAAGTAGTCATGTCCTCCATTTG -3'
Posted On 2013-06-12