Incidental Mutation 'IGL02309:Slco1b2'
ID 287719
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 # IGL02309
Quality Score
Status
Chromosome 6
Chromosomal Location 141575244-141632372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141618007 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JJL3
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: 44,193,125 (GRCm39) F111S probably benign Het
Afg1l C A 10: 42,330,374 (GRCm39) V98F possibly damaging Het
Agk T A 6: 40,353,210 (GRCm39) D191E possibly damaging Het
Akap5 A G 12: 76,375,629 (GRCm39) K354E possibly damaging Het
Aplp2 A T 9: 31,078,979 (GRCm39) M323K possibly damaging Het
Arhgap23 T C 11: 97,356,827 (GRCm39) probably benign Het
Asl A G 5: 130,048,622 (GRCm39) Y30H probably damaging Het
Asxl3 T A 18: 22,655,510 (GRCm39) H1173Q probably benign Het
Celsr2 C T 3: 108,303,327 (GRCm39) R2472H probably damaging Het
Clip1 T A 5: 123,755,763 (GRCm39) H950L probably damaging Het
Cx3cl1 A T 8: 95,506,660 (GRCm39) T222S probably benign Het
Cyp4a14 T A 4: 115,348,829 (GRCm39) N273Y probably damaging Het
Ddx52 T A 11: 83,839,304 (GRCm39) S214T probably damaging Het
Dennd2d T A 3: 106,402,284 (GRCm39) M318K probably benign Het
Dock3 A T 9: 106,790,351 (GRCm39) D1E probably damaging Het
Farp1 C T 14: 121,480,928 (GRCm39) T443I probably benign Het
Gm2381 C T 7: 42,472,033 (GRCm39) probably benign Het
Gpr87 T A 3: 59,086,975 (GRCm39) I178F possibly damaging Het
Grin2b C T 6: 135,713,470 (GRCm39) E804K probably damaging Het
Gtf2h1 T C 7: 46,465,812 (GRCm39) L421P probably damaging Het
Haghl T G 17: 26,003,638 (GRCm39) H56P probably damaging Het
Heatr3 T C 8: 88,893,700 (GRCm39) L489P probably damaging Het
Ighv6-6 A T 12: 114,398,534 (GRCm39) H77Q probably benign Het
Kdm2b A G 5: 123,085,883 (GRCm39) S243P probably damaging Het
Lamc3 T C 2: 31,804,616 (GRCm39) probably benign Het
Lgr4 T C 2: 109,842,880 (GRCm39) probably benign Het
Lhx3 T C 2: 26,091,385 (GRCm39) Q308R probably benign Het
Lonp2 G A 8: 87,361,491 (GRCm39) E223K probably damaging Het
Lta4h T C 10: 93,310,352 (GRCm39) F407L probably damaging Het
Mndal C T 1: 173,702,021 (GRCm39) G94R probably damaging Het
Nrxn3 A G 12: 89,943,175 (GRCm39) N101S probably damaging Het
Or14c41 T C 7: 86,234,705 (GRCm39) V74A possibly damaging Het
Or51af1 A T 7: 103,141,206 (GRCm39) I293K probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Or8b48 A G 9: 38,492,729 (GRCm39) N52S probably damaging Het
Or8d23 A G 9: 38,842,348 (GRCm39) N294D probably damaging Het
Pknox1 T G 17: 31,809,683 (GRCm39) F96V probably benign Het
Psg25 T G 7: 18,260,349 (GRCm39) Q183P probably damaging Het
Ptgs2 A G 1: 149,981,307 (GRCm39) Y530C probably damaging Het
Sema3e T A 5: 14,274,404 (GRCm39) D218E probably damaging Het
Shank1 G A 7: 43,962,266 (GRCm39) G46R unknown Het
Sidt1 T C 16: 44,075,343 (GRCm39) I672V probably benign Het
Skic3 A G 13: 76,275,166 (GRCm39) T238A possibly damaging Het
Smchd1 T C 17: 71,750,898 (GRCm39) H340R probably benign Het
Smoc2 C A 17: 14,595,789 (GRCm39) probably benign Het
Snapc1 A G 12: 74,014,801 (GRCm39) Y102C probably damaging Het
Spo11 A G 2: 172,821,744 (GRCm39) R20G probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tmem229b-ps T C 10: 53,351,466 (GRCm39) noncoding transcript Het
Trim12c T A 7: 103,994,163 (GRCm39) E230D possibly damaging Het
Ttc17 G T 2: 94,173,006 (GRCm39) N796K probably benign Het
Ttn A G 2: 76,709,443 (GRCm39) probably benign Het
Ublcp1 A T 11: 44,349,155 (GRCm39) probably benign Het
Usf3 C T 16: 44,021,026 (GRCm39) T11M probably benign Het
Vmn2r115 T A 17: 23,564,113 (GRCm39) M95K probably benign Het
Wapl A G 14: 34,466,820 (GRCm39) T1160A probably damaging 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
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 2015-04-16