Incidental Mutation 'R6489:Slco2b1'
ID 522636
Institutional Source Beutler Lab
Gene Symbol Slco2b1
Ensembl Gene ENSMUSG00000030737
Gene Name solute carrier organic anion transporter family, member 2b1
Synonyms OATP-B, Slc21a9
MMRRC Submission 044621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6489 (G1)
Quality Score 177.009
Status Validated
Chromosome 7
Chromosomal Location 99307011-99360547 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 99339762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 9 (C9*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088] [ENSMUST00000137914] [ENSMUST00000145381] [ENSMUST00000207090] [ENSMUST00000208225]
AlphaFold Q8BXB6
Predicted Effect probably null
Transcript: ENSMUST00000032985
AA Change: C46*
SMART Domains Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: C46*

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 null
Transcript: ENSMUST00000107086
AA Change: C46*
SMART Domains Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: C46*

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 null
Transcript: ENSMUST00000107088
AA Change: C56*
SMART Domains Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: C56*

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 null
Transcript: ENSMUST00000137914
AA Change: C60*
SMART Domains Protein: ENSMUSP00000115872
Gene: ENSMUSG00000030737
AA Change: C60*

DomainStartEndE-ValueType
Pfam:OATP 54 85 3.9e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000145381
AA Change: C60*
SMART Domains Protein: ENSMUSP00000123439
Gene: ENSMUSG00000030737
AA Change: C60*

DomainStartEndE-ValueType
Pfam:OATP 54 150 6.5e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000207090
AA Change: C60*
Predicted Effect probably null
Transcript: ENSMUST00000208225
AA Change: C60*
Predicted Effect probably null
Transcript: ENSMUST00000208713
AA Change: C9*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208250
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.3%
  • 20x: 90.6%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,901,145 (GRCm39) T650A probably benign Het
Alkbh7 T A 17: 57,305,979 (GRCm39) S127T probably damaging Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
App G T 16: 84,853,408 (GRCm39) D223E unknown Het
Arhgef2 C A 3: 88,550,321 (GRCm39) S675R probably damaging Het
Atg14 T C 14: 47,786,480 (GRCm39) D258G probably damaging Het
Calhm5 A T 10: 33,968,502 (GRCm39) W184R probably damaging Het
Cbr1b A T 16: 93,427,286 (GRCm39) probably null Het
Ckap2l T C 2: 129,111,034 (GRCm39) D721G possibly damaging Het
Cog8 T C 8: 107,776,933 (GRCm39) T481A probably benign Het
Colec10 C A 15: 54,325,609 (GRCm39) probably null Het
Cplx3 A T 9: 57,521,009 (GRCm39) probably null Het
Dhx9 T C 1: 153,332,389 (GRCm39) probably benign Het
Dock1 T C 7: 134,592,270 (GRCm39) M935T probably damaging Het
Dsg4 T A 18: 20,604,420 (GRCm39) N962K possibly damaging Het
Dym T C 18: 75,213,297 (GRCm39) V173A probably benign Het
Exoc3l4 A G 12: 111,395,131 (GRCm39) Y583C probably damaging Het
Flnb G A 14: 7,867,551 (GRCm38) V103M probably damaging Het
Fzd1 T A 5: 4,807,336 (GRCm39) Q82L probably benign Het
Gabrr1 A G 4: 33,162,855 (GRCm39) I474V probably benign Het
Galnt11 G T 5: 25,469,964 (GRCm39) W521L probably damaging Het
Glb1l3 A G 9: 26,738,127 (GRCm39) V420A probably benign Het
H1f7 A T 15: 98,154,888 (GRCm39) L87* probably null Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Ihh T A 1: 74,985,670 (GRCm39) T272S probably damaging Het
Il27ra T C 8: 84,758,179 (GRCm39) M524V probably benign Het
Mdp1 C A 14: 55,897,848 (GRCm39) probably benign Het
Med12l A G 3: 59,164,828 (GRCm39) K1436R probably damaging Het
Megf10 C T 18: 57,424,879 (GRCm39) S1006F probably benign Het
Miga1 A T 3: 151,984,645 (GRCm39) I426N probably damaging Het
Mtmr6 C T 14: 60,537,963 (GRCm39) T654I possibly damaging Het
Nbeal1 A G 1: 60,370,101 (GRCm39) S2673G possibly damaging Het
Nup93 T A 8: 95,028,716 (GRCm39) H193Q probably benign Het
Or1e25 T A 11: 73,494,265 (GRCm39) N286K probably damaging Het
Or4f7 A C 2: 111,644,405 (GRCm39) L222W probably damaging Het
Or52ae9 T C 7: 103,389,875 (GRCm39) N191D probably benign Het
Pdcd11 C T 19: 47,098,191 (GRCm39) R826C probably damaging Het
Pde4dip G A 3: 97,662,907 (GRCm39) R521* probably null Het
Phf2 T C 13: 48,979,658 (GRCm39) S158G unknown Het
Pla2g15 A G 8: 106,889,826 (GRCm39) E366G probably benign Het
Plekhm2 A T 4: 141,359,344 (GRCm39) H494Q probably damaging Het
Prpsap2 A T 11: 61,639,890 (GRCm39) M87K probably damaging Het
Rbm19 T G 5: 120,258,195 (GRCm39) S137A probably benign Het
Ryr2 T A 13: 11,848,893 (GRCm39) I363L probably benign Het
Samd9l T C 6: 3,376,896 (GRCm39) T122A probably benign Het
Scn4a G C 11: 106,240,006 (GRCm39) D70E probably benign Het
Slc12a3 T A 8: 95,061,632 (GRCm39) V293D possibly damaging Het
Slc6a7 T C 18: 61,140,615 (GRCm39) Y139C probably damaging Het
Slitrk1 A T 14: 109,148,735 (GRCm39) S659T possibly damaging Het
Son T G 16: 91,452,044 (GRCm39) S264A possibly damaging Het
Svep1 C A 4: 58,100,066 (GRCm39) G1326V probably damaging Het
Tcf12 A G 9: 71,922,918 (GRCm39) probably null Het
Ttn A G 2: 76,645,062 (GRCm39) V11185A probably damaging Het
Ubap2 T C 4: 41,203,574 (GRCm39) probably null Het
Utp15 G T 13: 98,387,117 (GRCm39) F434L probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vsnl1 T G 12: 11,382,219 (GRCm39) probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb34 A C 2: 33,301,558 (GRCm39) S328A probably damaging Het
Zdbf2 T C 1: 63,346,637 (GRCm39) I1672T possibly damaging Het
Other mutations in Slco2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Slco2b1 APN 7 99,309,259 (GRCm39) nonsense probably null
IGL00469:Slco2b1 APN 7 99,309,318 (GRCm39) missense probably benign 0.21
IGL02625:Slco2b1 APN 7 99,309,330 (GRCm39) splice site probably null
IGL03164:Slco2b1 APN 7 99,334,743 (GRCm39) missense probably damaging 0.97
3-1:Slco2b1 UTSW 7 99,334,700 (GRCm39) missense probably damaging 1.00
R0076:Slco2b1 UTSW 7 99,334,708 (GRCm39) nonsense probably null
R0370:Slco2b1 UTSW 7 99,339,644 (GRCm39) missense probably damaging 1.00
R0469:Slco2b1 UTSW 7 99,310,743 (GRCm39) missense probably benign 0.30
R0510:Slco2b1 UTSW 7 99,310,743 (GRCm39) missense probably benign 0.30
R1456:Slco2b1 UTSW 7 99,314,114 (GRCm39) missense probably null
R1868:Slco2b1 UTSW 7 99,335,243 (GRCm39) missense probably damaging 1.00
R2046:Slco2b1 UTSW 7 99,339,686 (GRCm39) missense probably damaging 0.98
R4030:Slco2b1 UTSW 7 99,332,032 (GRCm39) missense probably damaging 1.00
R4166:Slco2b1 UTSW 7 99,309,333 (GRCm39) missense probably benign 0.30
R4406:Slco2b1 UTSW 7 99,314,096 (GRCm39) missense probably benign 0.22
R4643:Slco2b1 UTSW 7 99,316,214 (GRCm39) missense probably benign 0.00
R4770:Slco2b1 UTSW 7 99,320,156 (GRCm39) critical splice donor site probably null
R4927:Slco2b1 UTSW 7 99,335,195 (GRCm39) missense probably damaging 0.99
R5033:Slco2b1 UTSW 7 99,309,256 (GRCm39) missense probably benign 0.14
R5166:Slco2b1 UTSW 7 99,338,220 (GRCm39) missense possibly damaging 0.50
R5306:Slco2b1 UTSW 7 99,338,198 (GRCm39) missense possibly damaging 0.79
R5358:Slco2b1 UTSW 7 99,309,251 (GRCm39) missense unknown
R5389:Slco2b1 UTSW 7 99,335,132 (GRCm39) missense probably damaging 0.98
R5874:Slco2b1 UTSW 7 99,316,301 (GRCm39) missense probably benign
R6151:Slco2b1 UTSW 7 99,339,770 (GRCm39) missense possibly damaging 0.46
R6163:Slco2b1 UTSW 7 99,338,106 (GRCm39) missense probably damaging 1.00
R6192:Slco2b1 UTSW 7 99,334,779 (GRCm39) missense probably damaging 1.00
R6651:Slco2b1 UTSW 7 99,316,376 (GRCm39) missense probably benign 0.09
R7135:Slco2b1 UTSW 7 99,344,270 (GRCm39) missense probably null 0.03
R7322:Slco2b1 UTSW 7 99,341,055 (GRCm39) missense not run
R7353:Slco2b1 UTSW 7 99,339,764 (GRCm39) missense possibly damaging 0.77
R7474:Slco2b1 UTSW 7 99,314,039 (GRCm39) missense probably damaging 1.00
R7888:Slco2b1 UTSW 7 99,338,050 (GRCm39) missense unknown
R8121:Slco2b1 UTSW 7 99,334,760 (GRCm39) missense probably benign 0.00
R8751:Slco2b1 UTSW 7 99,309,259 (GRCm39) nonsense probably null
R9031:Slco2b1 UTSW 7 99,338,214 (GRCm39) missense probably damaging 1.00
R9068:Slco2b1 UTSW 7 99,320,171 (GRCm39) missense probably benign 0.17
R9725:Slco2b1 UTSW 7 99,335,265 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGCTCAGCACGCACTTCTG -3'
(R):5'- TCCATGGGCTACTCCAATTAACTAAC -3'

Sequencing Primer
(F):5'- CAAAGCGCTTTTCCACTG -3'
(R):5'- AACTAACTCTTTTCTTCTCTCCCTC -3'
Posted On 2018-06-06