Incidental Mutation 'IGL01952:Slco1b2'
ID181066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1b2
Ensembl Gene ENSMUSG00000030236
Gene Namesolute carrier organic anion transporter family, member 1b2
Synonyms7330442B20Rik, Slc21a6, mlst-1, Oatp1b2, Slc21a10
Accession Numbers

Genbank: NM_020495; MGI: 

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01952
Quality Score
Status
Chromosome6
Chromosomal Location141629518-141686646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 141671230 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 430 (F430V)
Ref Sequence ENSEMBL: ENSMUSP00000044326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
Predicted Effect probably benign
Transcript: ENSMUST00000042812
AA Change: F430V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: F430V

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
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Grin2d C A 7: 45,862,280 R247L probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Slco1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Slco1b2 APN 6 141655352 missense probably damaging 0.99
IGL01583:Slco1b2 APN 6 141663672 missense possibly damaging 0.85
IGL01909:Slco1b2 APN 6 141648586 missense probably damaging 1.00
IGL01943:Slco1b2 APN 6 141676286 missense possibly damaging 0.71
IGL02186:Slco1b2 APN 6 141634545 splice site probably benign
IGL02309:Slco1b2 APN 6 141672281 missense probably damaging 1.00
IGL02352:Slco1b2 APN 6 141685525 missense probably damaging 0.96
IGL02359:Slco1b2 APN 6 141685525 missense probably damaging 0.96
IGL02524:Slco1b2 APN 6 141671072 missense probably benign 0.03
IGL02701:Slco1b2 APN 6 141685545 missense probably benign 0.35
IGL02962:Slco1b2 APN 6 141648553 missense probably damaging 0.99
3-1:Slco1b2 UTSW 6 141669463 missense probably benign 0.01
IGL03052:Slco1b2 UTSW 6 141648585 missense probably benign 0.13
R0112:Slco1b2 UTSW 6 141671111 missense probably benign 0.30
R0116:Slco1b2 UTSW 6 141669388 missense probably benign 0.22
R0515:Slco1b2 UTSW 6 141669410 missense possibly damaging 0.74
R0831:Slco1b2 UTSW 6 141685446 missense probably benign 0.01
R0965:Slco1b2 UTSW 6 141685596 missense probably damaging 1.00
R1115:Slco1b2 UTSW 6 141683254 missense probably benign 0.03
R1452:Slco1b2 UTSW 6 141672200 missense probably benign 0.02
R1630:Slco1b2 UTSW 6 141656821 missense probably damaging 0.99
R1885:Slco1b2 UTSW 6 141683225 missense probably damaging 0.96
R1886:Slco1b2 UTSW 6 141683225 missense probably damaging 0.96
R1975:Slco1b2 UTSW 6 141683225 missense probably damaging 0.96
R2394:Slco1b2 UTSW 6 141669374 missense probably damaging 0.99
R3408:Slco1b2 UTSW 6 141676256 missense probably benign 0.01
R3793:Slco1b2 UTSW 6 141676307 missense probably damaging 1.00
R4560:Slco1b2 UTSW 6 141671167 missense probably benign 0.15
R4561:Slco1b2 UTSW 6 141671167 missense probably benign 0.15
R4563:Slco1b2 UTSW 6 141671167 missense probably benign 0.15
R4807:Slco1b2 UTSW 6 141669469 missense probably damaging 1.00
R4820:Slco1b2 UTSW 6 141685432 missense probably benign 0.05
R4861:Slco1b2 UTSW 6 141671222 missense possibly damaging 0.95
R4861:Slco1b2 UTSW 6 141671222 missense possibly damaging 0.95
R4889:Slco1b2 UTSW 6 141656743 intron probably benign
R4914:Slco1b2 UTSW 6 141669370 missense probably benign 0.14
R4918:Slco1b2 UTSW 6 141669370 missense probably benign 0.14
R4977:Slco1b2 UTSW 6 141657557 missense probably benign 0.01
R5607:Slco1b2 UTSW 6 141685586 missense probably benign
R6082:Slco1b2 UTSW 6 141663670 missense probably benign 0.08
R6118:Slco1b2 UTSW 6 141657510 missense probably benign 0.03
R6522:Slco1b2 UTSW 6 141655419 critical splice donor site probably null
R7054:Slco1b2 UTSW 6 141672248 missense probably damaging 1.00
R7182:Slco1b2 UTSW 6 141656930 missense probably damaging 1.00
R7763:Slco1b2 UTSW 6 141676224 nonsense probably null
Posted On2014-05-07