Incidental Mutation 'IGL02309:Slco1b2'
ID287719
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 #IGL02309
Quality Score
Status
Chromosome6
Chromosomal Location141629518-141686646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141672281 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 486 (S486T)
Ref Sequence ENSEMBL: ENSMUSP00000044326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042812] [ENSMUST00000203597]
Predicted Effect probably damaging
Transcript: ENSMUST00000042812
AA Change: S486T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: S486T

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 damaging
Transcript: ENSMUST00000203597
AA Change: S451T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: S451T

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,828 F111S probably benign Het
Afg1l C A 10: 42,454,378 V98F possibly damaging Het
Agk T A 6: 40,376,276 D191E possibly damaging Het
Akap5 A G 12: 76,328,855 K354E possibly damaging Het
Aplp2 A T 9: 31,167,683 M323K possibly damaging Het
Arhgap23 T C 11: 97,466,001 probably benign Het
Asl A G 5: 130,019,781 Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 R2472H probably damaging Het
Clip1 T A 5: 123,617,700 H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 S214T probably damaging Het
Dennd2d T A 3: 106,494,968 M318K probably benign Het
Dock3 A T 9: 106,913,152 D1E probably damaging Het
Farp1 C T 14: 121,243,516 T443I probably benign Het
Gm2381 C T 7: 42,822,609 probably benign Het
Gpr87 T A 3: 59,179,554 I178F possibly damaging Het
Grin2b C T 6: 135,736,472 E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 L421P probably damaging Het
Haghl T G 17: 25,784,664 H56P probably damaging Het
Heatr3 T C 8: 88,167,072 L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 H77Q probably benign Het
Kdm2b A G 5: 122,947,820 S243P probably damaging Het
Lamc3 T C 2: 31,914,604 probably benign Het
Lgr4 T C 2: 110,012,535 probably benign Het
Lhx3 T C 2: 26,201,373 Q308R probably benign Het
Lonp2 G A 8: 86,634,863 E223K probably damaging Het
Lta4h T C 10: 93,474,490 F407L probably damaging Het
Mndal C T 1: 173,874,455 G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 N101S probably damaging Het
Olfr295 T C 7: 86,585,497 V74A possibly damaging Het
Olfr609 A T 7: 103,491,999 I293K probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olfr912 A G 9: 38,581,433 N52S probably damaging Het
Olfr930 A G 9: 38,931,052 N294D probably damaging Het
Pknox1 T G 17: 31,590,709 F96V probably benign Het
Psg25 T G 7: 18,526,424 Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 Y530C probably damaging Het
Sema3e T A 5: 14,224,390 D218E probably damaging Het
Shank1 G A 7: 44,312,842 G46R unknown Het
Sidt1 T C 16: 44,254,980 I672V probably benign Het
Smchd1 T C 17: 71,443,903 H340R probably benign Het
Smoc2 C A 17: 14,375,527 probably benign Het
Snapc1 A G 12: 73,968,027 Y102C probably damaging Het
Spo11 A G 2: 172,979,951 R20G probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 noncoding transcript Het
Trim12c T A 7: 104,344,956 E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 N796K probably benign Het
Ttc37 A G 13: 76,127,047 T238A possibly damaging Het
Ttn A G 2: 76,879,099 probably benign Het
Ublcp1 A T 11: 44,458,328 probably benign Het
Usf3 C T 16: 44,200,663 T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 M95K probably benign Het
Wapl A G 14: 34,744,863 T1160A 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
IGL01952:Slco1b2 APN 6 141671230 missense probably benign 0.01
IGL02186:Slco1b2 APN 6 141634545 splice site probably benign
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
Posted On2015-04-16