Incidental Mutation 'R5033:Slco2b1'
ID 389367
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 042624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5033 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 99307011-99360547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99309256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 692 (Q692K)
Ref Sequence ENSEMBL: ENSMUSP00000102703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032985] [ENSMUST00000107086] [ENSMUST00000107088]
AlphaFold Q8BXB6
Predicted Effect probably benign
Transcript: ENSMUST00000032985
AA Change: Q682K

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032985
Gene: ENSMUSG00000030737
AA Change: Q682K

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: Q682K

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102701
Gene: ENSMUSG00000030737
AA Change: Q682K

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: Q692K

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102703
Gene: ENSMUSG00000030737
AA Change: Q692K

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: ENSMUST00000131160
Predicted Effect probably benign
Transcript: ENSMUST00000154295
AA Change: T192K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000121002
Gene: ENSMUSG00000030737
AA Change: T192K

DomainStartEndE-ValueType
Pfam:OATP 5 166 1.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208024
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hdac9 A T 12: 34,423,906 (GRCm39) C587S probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P probably benign 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
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
R6489:Slco2b1 UTSW 7 99,339,762 (GRCm39) nonsense probably null
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'- TTAGTAGAGGACCCTCAGGCAC -3'
(R):5'- ACATAGTTGCACCCGGTCTAC -3'

Sequencing Primer
(F):5'- CACTGGACGGTGGTGCTTC -3'
(R):5'- CGCTGAGGCTAACAAGTACCTG -3'
Posted On 2016-06-06