Incidental Mutation 'IGL01943:Slco1b2'
ID 180932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1b2
Ensembl Gene ENSMUSG00000030236
Gene Name solute carrier organic anion transporter family, member 1b2
Synonyms Slc21a6, Oatp1b2, 7330442B20Rik, mlst-1, Slc21a10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01943
Quality Score
Status
Chromosome 6
Chromosomal Location 141575244-141632372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141622012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 489 (D489G)
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: D524G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: D524G

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 possibly damaging
Transcript: ENSMUST00000203597
AA Change: D489G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: D489G

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) 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
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
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
Posted On 2014-05-07