Incidental Mutation 'R0469:Slco2b1'
ID43131
Institutional Source Beutler Lab
Gene Symbol Slco2b1
Ensembl Gene ENSMUSG00000030737
Gene Namesolute carrier organic anion transporter family, member 2b1
SynonymsOATP-B, Slc21a9
MMRRC Submission 038669-MU
Accession Numbers

Genbank: NM_175316; MGI: 1351872

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0469 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location99657804-99711340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99661536 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 603 (M603L)
Ref Sequence ENSEMBL: ENSMUSP00000102703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088]
Predicted Effect probably benign
Transcript: ENSMUST00000032985
AA Change: M593L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: M593L

DomainStartEndE-ValueType
Pfam:OATP 40 637 9.3e-189 PFAM
Pfam:MFS_1 44 468 1.9e-17 PFAM
transmembrane domain 640 662 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107086
AA Change: M593L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: M593L

DomainStartEndE-ValueType
Pfam:OATP 40 637 9.3e-189 PFAM
Pfam:MFS_1 44 468 1.9e-17 PFAM
transmembrane domain 640 662 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107088
AA Change: M603L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: M603L

DomainStartEndE-ValueType
Pfam:OATP 52 646 3.6e-182 PFAM
Pfam:MFS_1 53 476 2e-17 PFAM
transmembrane domain 650 672 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148972
Predicted Effect unknown
Transcript: ENSMUST00000154295
AA Change: M122L
SMART Domains Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
AA Change: M122L

DomainStartEndE-ValueType
Pfam:OATP 5 166 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208024
Meta Mutation Damage Score 0.1133 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 104,977,616 I67T probably damaging Het
Acoxl G A 2: 127,880,503 probably null Het
Adam10 T A 9: 70,748,248 W333R probably damaging Het
Ahnak C T 19: 9,018,232 R5627* probably null Het
Alms1 A T 6: 85,620,369 R1195* probably null Het
Arih2 T A 9: 108,605,092 H490L possibly damaging Het
Arpc1b T A 5: 145,127,715 W361R probably damaging Het
B3gntl1 A T 11: 121,673,025 V3D probably benign Het
Baiap2l1 T C 5: 144,275,891 Y438C probably damaging Het
Bicc1 C A 10: 71,079,215 R73L probably benign Het
Ccdc110 T A 8: 45,935,157 N50K probably benign Het
Cep76 A T 18: 67,634,780 N227K probably benign Het
Col6a4 A T 9: 106,080,547 V26D probably damaging Het
Cpe T A 8: 64,611,467 I233F probably damaging Het
Cpsf2 T C 12: 101,988,786 V272A probably damaging Het
Defa34 A G 8: 21,665,972 probably null Het
Dnah12 A G 14: 26,798,899 R1892G probably damaging Het
Efr3b G T 12: 3,982,058 D183E probably benign Het
Epyc A G 10: 97,649,763 T22A probably benign Het
Fam83a C A 15: 58,009,926 Q384K probably benign Het
Fam83b G T 9: 76,492,826 L332I possibly damaging Het
Ggn C T 7: 29,171,296 P47S probably damaging Het
Gli3 T G 13: 15,724,785 L919R probably damaging Het
Gm8251 T A 1: 44,061,097 K280N possibly damaging Het
Golgb1 A G 16: 36,931,635 I3144V probably benign Het
Gpr108 T C 17: 57,235,358 D549G possibly damaging Het
Gpr39 C T 1: 125,677,500 T55M probably damaging Het
Grk4 A G 5: 34,716,213 T208A probably damaging Het
Gucy2e T C 11: 69,235,576 D326G probably benign Het
H2-Eb2 C T 17: 34,334,244 Q135* probably null Het
Hectd4 G A 5: 121,305,673 E1319K possibly damaging Het
Hectd4 T A 5: 121,281,896 Y635N possibly damaging Het
Hnrnph3 T A 10: 63,018,215 R41S probably benign Het
Hnrnph3 T A 10: 63,019,500 D2V probably damaging Het
Hs3st2 T C 7: 121,500,569 S213P probably damaging Het
Ikbkb A T 8: 22,671,635 C412* probably null Het
Kctd21 T C 7: 97,347,541 F74L probably damaging Het
Krt23 T A 11: 99,486,782 I133L probably damaging Het
Krt74 T C 15: 101,763,316 noncoding transcript Het
Lmtk3 T A 7: 45,794,112 L740M possibly damaging Het
Lrrc10 T A 10: 117,045,790 L123Q probably damaging Het
Map1a A T 2: 121,305,774 H2357L probably benign Het
Mcf2l A G 8: 12,997,337 D233G probably damaging Het
Mdn1 A G 4: 32,738,619 N3524S probably benign Het
Msto1 A G 3: 88,911,541 L269P probably benign Het
Naca C T 10: 128,044,790 A1897V probably benign Het
Olfr1138 A G 2: 87,737,481 V281A probably damaging Het
Olfr1238 A T 2: 89,406,791 M96K probably damaging Het
Olfr338 A T 2: 36,377,462 I229F probably benign Het
Olfr870 T C 9: 20,171,265 Y102C probably benign Het
Pdzrn3 A T 6: 101,151,053 I884N probably damaging Het
Phf24 G T 4: 42,933,761 V48L possibly damaging Het
Pkn1 C A 8: 83,672,324 C678F probably damaging Het
Pla2g4a T A 1: 149,840,647 M688L possibly damaging Het
Ppp1r3c A T 19: 36,734,217 F51Y possibly damaging Het
Psen2 T C 1: 180,238,914 T153A probably damaging Het
Rbmx C T X: 57,391,566 probably null Het
Rbp3 A G 14: 33,962,419 K1135R possibly damaging Het
Sncaip A G 18: 52,868,709 T101A probably benign Het
Ssh1 A T 5: 113,946,705 D448E probably benign Het
Ssmem1 A T 6: 30,519,548 probably null Het
Stk11 T C 10: 80,126,086 V47A probably damaging Het
Sv2b T G 7: 75,136,392 M427L probably benign Het
Syne1 A G 10: 5,367,600 L498P probably damaging Het
Syne2 T C 12: 75,854,149 probably null Het
Taf6l G T 19: 8,778,521 H254Q probably benign Het
Tas2r123 T C 6: 132,847,332 V64A probably benign Het
Tm9sf1 A T 14: 55,641,429 F169I possibly damaging Het
Tmpo A C 10: 91,163,096 I276M probably benign Het
Tnnc1 A G 14: 31,211,408 D149G probably damaging Het
Tpr AAGAGAGAGAGAGAG AAGAGAGAGAGAG 1: 150,423,667 probably null Het
Traf3ip3 T A 1: 193,178,231 probably null Het
Trim55 G T 3: 19,671,092 V258L possibly damaging Het
Trpm1 G A 7: 64,223,758 G587D probably damaging Het
Ttn A G 2: 76,730,412 V29215A probably damaging Het
Ube2u A G 4: 100,486,673 I90V probably benign Het
Upb1 T C 10: 75,415,083 probably null Het
Vmn2r57 A T 7: 41,427,792 S317T possibly damaging Het
Wdr73 G A 7: 80,897,950 Q107* probably null Het
Zfp628 A T 7: 4,919,733 Q318L probably benign Het
Other mutations in Slco2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Slco2b1 APN 7 99660052 nonsense probably null
IGL00469:Slco2b1 APN 7 99660111 missense probably benign 0.21
IGL02625:Slco2b1 APN 7 99660123 splice site probably null
IGL03164:Slco2b1 APN 7 99685536 missense probably damaging 0.97
3-1:Slco2b1 UTSW 7 99685493 missense probably damaging 1.00
R0076:Slco2b1 UTSW 7 99685501 nonsense probably null
R0370:Slco2b1 UTSW 7 99690437 missense probably damaging 1.00
R0510:Slco2b1 UTSW 7 99661536 missense probably benign 0.30
R1456:Slco2b1 UTSW 7 99664907 missense probably null
R1868:Slco2b1 UTSW 7 99686036 missense probably damaging 1.00
R2046:Slco2b1 UTSW 7 99690479 missense probably damaging 0.98
R4030:Slco2b1 UTSW 7 99682825 missense probably damaging 1.00
R4166:Slco2b1 UTSW 7 99660126 missense probably benign 0.30
R4406:Slco2b1 UTSW 7 99664889 missense probably benign 0.22
R4643:Slco2b1 UTSW 7 99667007 missense probably benign 0.00
R4770:Slco2b1 UTSW 7 99670949 critical splice donor site probably null
R4927:Slco2b1 UTSW 7 99685988 missense probably damaging 0.99
R5033:Slco2b1 UTSW 7 99660049 missense probably benign 0.14
R5166:Slco2b1 UTSW 7 99689013 missense possibly damaging 0.50
R5306:Slco2b1 UTSW 7 99688991 missense possibly damaging 0.79
R5358:Slco2b1 UTSW 7 99660044 missense unknown
R5389:Slco2b1 UTSW 7 99685925 missense probably damaging 0.98
R5874:Slco2b1 UTSW 7 99667094 missense probably benign
R6151:Slco2b1 UTSW 7 99690563 missense possibly damaging 0.46
R6163:Slco2b1 UTSW 7 99688899 missense probably damaging 1.00
R6192:Slco2b1 UTSW 7 99685572 missense probably damaging 1.00
R6489:Slco2b1 UTSW 7 99690555 nonsense probably null
R6651:Slco2b1 UTSW 7 99667169 missense probably benign 0.09
R7135:Slco2b1 UTSW 7 99695063 missense probably null 0.03
R7322:Slco2b1 UTSW 7 99691848 missense not run
R7353:Slco2b1 UTSW 7 99690557 missense possibly damaging 0.77
R7474:Slco2b1 UTSW 7 99664832 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGTTACCCCACCCACTTGGAAG -3'
(R):5'- ACTGTTGAGAAGCCAGTCGTTGC -3'

Sequencing Primer
(F):5'- CTTGGAAGCCCTAAGATCCC -3'
(R):5'- AGATGTAGGCTCTGAGACTTCCC -3'
Posted On2013-05-23