Incidental Mutation 'R2046:Slco2b1'
ID221963
Institutional Source Beutler Lab
Gene Symbol Slco2b1
Ensembl Gene ENSMUSG00000030737
Gene Namesolute carrier organic anion transporter family, member 2b1
SynonymsOATP-B, Slc21a9
MMRRC Submission 040053-MU
Accession Numbers

Genbank: NM_175316; MGI: 1351872

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2046 (G1)
Quality Score130
Status Validated
Chromosome7
Chromosomal Location99657804-99711340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99690479 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 86 (F86L)
Ref Sequence ENSEMBL: ENSMUSP00000146717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088] [ENSMUST00000137914] [ENSMUST00000145381] [ENSMUST00000207090] [ENSMUST00000208225]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032985
AA Change: F72L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: F72L

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 possibly damaging
Transcript: ENSMUST00000107086
AA Change: F72L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: F72L

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 possibly damaging
Transcript: ENSMUST00000107088
AA Change: F82L

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: F82L

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 probably benign
Transcript: ENSMUST00000137914
SMART Domains Protein: ENSMUSP00000115872
Gene: ENSMUSG00000030737

DomainStartEndE-ValueType
Pfam:OATP 54 85 3.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145381
AA Change: F86L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123439
Gene: ENSMUSG00000030737
AA Change: F86L

DomainStartEndE-ValueType
Pfam:OATP 54 150 6.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207090
Predicted Effect probably damaging
Transcript: ENSMUST00000208225
AA Change: F86L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208250
Predicted Effect unknown
Transcript: ENSMUST00000208713
AA Change: F35L
Meta Mutation Damage Score 0.394 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T A 2: 130,810,917 I42L possibly damaging Het
4930503L19Rik T A 18: 70,467,482 D84V probably damaging Het
Abcc5 A T 16: 20,399,817 S272T possibly damaging Het
Adgre4 A G 17: 55,778,847 N49D possibly damaging Het
Ap2b1 A T 11: 83,336,386 Y328F probably benign Het
Arhgef33 G C 17: 80,373,466 E678D probably benign Het
Arid2 G A 15: 96,369,387 V583I probably damaging Het
Bdkrb1 T A 12: 105,604,726 S184T probably benign Het
Bend3 T C 10: 43,511,846 F745S probably damaging Het
Card10 A T 15: 78,787,473 V597E possibly damaging Het
Casp3 T A 8: 46,629,726 probably benign Het
Ccnb2 A G 9: 70,409,347 V340A probably benign Het
Cdkl3 G T 11: 52,026,850 V325L probably benign Het
Clec4n T A 6: 123,246,504 N153K probably benign Het
Crtac1 C T 19: 42,334,053 V83I probably damaging Het
Cul9 C A 17: 46,543,733 L14F probably damaging Het
Dgka T C 10: 128,723,535 Y519C probably damaging Het
Dhrs7 T G 12: 72,652,266 K314T possibly damaging Het
Dnah10 G T 5: 124,796,341 K2542N probably benign Het
Dock5 A T 14: 67,812,142 V731E probably benign Het
Dpy19l1 T A 9: 24,423,159 H571L probably damaging Het
Dzip1 A T 14: 118,922,478 I106N probably damaging Het
Eif2ak4 A T 2: 118,451,408 probably benign Het
Epha4 T C 1: 77,507,162 Y70C probably damaging Het
Eps15 T C 4: 109,370,596 F344S probably damaging Het
Erbb4 C T 1: 68,298,323 R612Q probably benign Het
Fam83h T C 15: 76,002,938 H850R probably benign Het
Fancg A G 4: 43,004,604 C484R probably damaging Het
Fzd9 A G 5: 135,249,684 I449T probably damaging Het
Gm10647 A G 9: 66,798,237 probably benign Het
Gm4951 T A 18: 60,245,499 H35Q probably benign Het
Itga11 C T 9: 62,727,697 L86F probably damaging Het
Lamc2 C T 1: 153,141,765 R492H probably benign Het
March6 A G 15: 31,486,434 V325A probably benign Het
Myo5b A T 18: 74,577,455 I47F probably benign Het
Nek9 T A 12: 85,320,707 probably benign Het
Nelfb T A 2: 25,206,311 N262I probably damaging Het
Neurl4 A G 11: 69,908,697 D942G probably damaging Het
Nipbl G A 15: 8,324,467 P1729S probably benign Het
Nr4a3 A G 4: 48,067,807 T468A possibly damaging Het
Nrm G A 17: 35,864,217 V146I probably benign Het
Olfr1099 C A 2: 86,958,733 A242S possibly damaging Het
Pitx3 T C 19: 46,137,179 E42G possibly damaging Het
Pkd1l2 C T 8: 116,999,955 A2271T probably damaging Het
Pofut2 A G 10: 77,260,594 N51S probably damaging Het
Ppp1r3a T C 6: 14,722,104 E273G probably benign Het
Psme4 A G 11: 30,817,723 probably benign Het
Pus7l T C 15: 94,540,785 I60V probably benign Het
Pygo2 T A 3: 89,433,148 N284K possibly damaging Het
Ralgapa1 C T 12: 55,695,160 C1368Y probably damaging Het
Rbm45 G A 2: 76,375,398 G198E probably benign Het
Reln T C 5: 21,942,627 I2442V probably benign Het
Rmi1 T C 13: 58,407,958 V7A probably benign Het
Rsf1 T C 7: 97,661,677 L538P probably benign Het
Rsph4a T G 10: 33,914,543 probably benign Het
Sardh A T 2: 27,215,082 D676E possibly damaging Het
Sh3tc2 A G 18: 61,990,843 M892V probably benign Het
Slc38a11 A G 2: 65,358,185 F80S probably damaging Het
Slc6a2 C A 8: 92,972,926 S194* probably null Het
Smc3 G A 19: 53,639,414 D875N probably benign Het
Sp100 G A 1: 85,709,065 E575K possibly damaging Het
Spns2 A G 11: 72,459,040 L196P possibly damaging Het
Taf8 A G 17: 47,490,276 S261P probably benign Het
Trim2 A G 3: 84,208,289 L86P probably damaging Het
Ttn C A 2: 76,907,794 V4134F probably benign Het
Ush2a A G 1: 188,356,927 T360A probably benign Het
Usp28 T A 9: 49,039,075 C935S probably damaging Het
Vps37d T A 5: 135,073,977 M134L probably benign Het
Vwa2 T G 19: 56,905,578 V329G probably benign Het
Zfp110 A G 7: 12,849,422 R666G 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
R0469:Slco2b1 UTSW 7 99661536 missense probably benign 0.30
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
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'- TGCTGCAAGAGGAGAGCTAT -3'
(R):5'- GCTCATCTTTCGGCCACGT -3'

Sequencing Primer
(F):5'- GCTATGAGAGATTTGGGGAGC -3'
(R):5'- ATCTTTCGGCCACGTTCTCC -3'
Posted On2014-08-25