Incidental Mutation 'R3421:Slco1a5'
ID 267041
Institutional Source Beutler Lab
Gene Symbol Slco1a5
Ensembl Gene ENSMUSG00000063975
Gene Name solute carrier organic anion transporter family, member 1a5
Synonyms Slc21a7, Oatp3
MMRRC Submission 040639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3421 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142179953-142268707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142213964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 52 (D52E)
Ref Sequence ENSEMBL: ENSMUSP00000124829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000128446] [ENSMUST00000153268]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081380
AA Change: D52E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: D52E

DomainStartEndE-ValueType
Pfam:MFS_1 22 420 4.3e-30 PFAM
KAZAL 438 486 2.18e0 SMART
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111822
Predicted Effect probably benign
Transcript: ENSMUST00000111825
AA Change: D52E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: D52E

DomainStartEndE-ValueType
Pfam:MFS_1 22 420 5.8e-30 PFAM
KAZAL 438 486 2.18e0 SMART
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128446
AA Change: D10E

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
AA Change: D10E

DomainStartEndE-ValueType
Pfam:OATP 1 157 6.1e-67 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153268
AA Change: D52E

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: D52E

DomainStartEndE-ValueType
Pfam:OATP 19 74 3.4e-16 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,350,697 (GRCm39) probably null Het
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brip1 A T 11: 86,043,495 (GRCm39) Y356* probably null Het
Ccdc40 C T 11: 119,125,605 (GRCm39) P348L probably benign Het
Chrdl2 G A 7: 99,673,075 (GRCm39) C9Y probably damaging Het
Chst4 T C 8: 110,757,038 (GRCm39) D192G probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Dmgdh T C 13: 93,847,869 (GRCm39) V522A probably benign Het
Dtx2 T A 5: 136,041,332 (GRCm39) Y246N probably damaging Het
Gtf2ird1 T A 5: 134,417,354 (GRCm39) M518L probably benign Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Igfn1 C T 1: 135,904,655 (GRCm39) probably null Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kif4-ps A T 12: 101,113,230 (GRCm39) E453V probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mr1 T C 1: 155,013,337 (GRCm39) Y80C probably damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4c123 C G 2: 89,126,897 (GRCm39) S239T probably benign Het
Or4g7 A G 2: 111,309,297 (GRCm39) H56R probably benign Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Prex1 A G 2: 166,459,774 (GRCm39) V124A probably damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slc7a3 T A X: 100,124,481 (GRCm39) probably benign Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Telo2 C T 17: 25,329,726 (GRCm39) R262Q probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp712 C T 13: 67,200,456 (GRCm39) V10M probably damaging Het
Other mutations in Slco1a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Slco1a5 APN 6 142,187,876 (GRCm39) missense probably benign 0.00
IGL01432:Slco1a5 APN 6 142,182,012 (GRCm39) missense possibly damaging 0.59
IGL01590:Slco1a5 APN 6 142,196,045 (GRCm39) missense probably benign 0.01
IGL01824:Slco1a5 APN 6 142,198,763 (GRCm39) missense probably benign 0.01
IGL01915:Slco1a5 APN 6 142,189,599 (GRCm39) missense probably benign 0.00
IGL01945:Slco1a5 APN 6 142,189,715 (GRCm39) critical splice acceptor site probably null
IGL02078:Slco1a5 APN 6 142,200,172 (GRCm39) missense probably benign 0.30
IGL02178:Slco1a5 APN 6 142,208,414 (GRCm39) nonsense probably null
IGL02366:Slco1a5 APN 6 142,195,941 (GRCm39) missense possibly damaging 0.57
IGL02395:Slco1a5 APN 6 142,221,213 (GRCm39) missense probably damaging 0.99
IGL02621:Slco1a5 APN 6 142,187,741 (GRCm39) missense probably benign 0.10
IGL02752:Slco1a5 APN 6 142,208,438 (GRCm39) missense probably benign 0.07
IGL02940:Slco1a5 APN 6 142,187,731 (GRCm39) missense probably damaging 1.00
IGL03065:Slco1a5 APN 6 142,194,569 (GRCm39) splice site probably benign
IGL03377:Slco1a5 APN 6 142,180,492 (GRCm39) missense probably benign 0.01
R0017:Slco1a5 UTSW 6 142,182,061 (GRCm39) splice site probably benign
R0017:Slco1a5 UTSW 6 142,182,061 (GRCm39) splice site probably benign
R0230:Slco1a5 UTSW 6 142,182,054 (GRCm39) splice site probably benign
R0690:Slco1a5 UTSW 6 142,214,004 (GRCm39) missense probably benign 0.24
R1217:Slco1a5 UTSW 6 142,200,100 (GRCm39) missense probably damaging 0.98
R1900:Slco1a5 UTSW 6 142,187,789 (GRCm39) missense probably benign 0.44
R2084:Slco1a5 UTSW 6 142,180,437 (GRCm39) missense probably benign 0.32
R2393:Slco1a5 UTSW 6 142,194,501 (GRCm39) missense possibly damaging 0.85
R2414:Slco1a5 UTSW 6 142,181,976 (GRCm39) missense probably damaging 1.00
R2760:Slco1a5 UTSW 6 142,195,997 (GRCm39) missense probably benign 0.00
R3420:Slco1a5 UTSW 6 142,213,964 (GRCm39) missense possibly damaging 0.61
R3827:Slco1a5 UTSW 6 142,198,975 (GRCm39) missense probably damaging 0.97
R3963:Slco1a5 UTSW 6 142,194,370 (GRCm39) critical splice donor site probably null
R3977:Slco1a5 UTSW 6 142,204,698 (GRCm39) splice site probably benign
R4074:Slco1a5 UTSW 6 142,213,950 (GRCm39) missense possibly damaging 0.88
R4075:Slco1a5 UTSW 6 142,213,950 (GRCm39) missense possibly damaging 0.88
R4076:Slco1a5 UTSW 6 142,213,950 (GRCm39) missense possibly damaging 0.88
R4782:Slco1a5 UTSW 6 142,194,533 (GRCm39) missense possibly damaging 0.82
R4799:Slco1a5 UTSW 6 142,194,533 (GRCm39) missense possibly damaging 0.82
R4831:Slco1a5 UTSW 6 142,180,431 (GRCm39) missense probably benign
R5038:Slco1a5 UTSW 6 142,212,090 (GRCm39) missense probably damaging 1.00
R5038:Slco1a5 UTSW 6 142,208,363 (GRCm39) missense probably benign 0.01
R5063:Slco1a5 UTSW 6 142,204,791 (GRCm39) missense probably damaging 1.00
R5273:Slco1a5 UTSW 6 142,187,824 (GRCm39) missense probably benign 0.00
R5436:Slco1a5 UTSW 6 142,200,118 (GRCm39) missense probably damaging 1.00
R5579:Slco1a5 UTSW 6 142,187,851 (GRCm39) missense possibly damaging 0.93
R5602:Slco1a5 UTSW 6 142,221,255 (GRCm39) start gained probably benign
R5643:Slco1a5 UTSW 6 142,183,320 (GRCm39) splice site probably null
R5644:Slco1a5 UTSW 6 142,183,320 (GRCm39) splice site probably null
R5686:Slco1a5 UTSW 6 142,182,033 (GRCm39) missense probably damaging 1.00
R5699:Slco1a5 UTSW 6 142,194,542 (GRCm39) missense probably damaging 0.96
R5792:Slco1a5 UTSW 6 142,187,839 (GRCm39) missense probably damaging 1.00
R5938:Slco1a5 UTSW 6 142,194,443 (GRCm39) missense probably damaging 0.97
R5997:Slco1a5 UTSW 6 142,198,839 (GRCm39) missense probably benign 0.19
R6146:Slco1a5 UTSW 6 142,180,534 (GRCm39) missense probably benign
R6377:Slco1a5 UTSW 6 142,187,906 (GRCm39) splice site probably null
R6466:Slco1a5 UTSW 6 142,183,260 (GRCm39) missense probably benign 0.01
R6523:Slco1a5 UTSW 6 142,212,121 (GRCm39) missense probably damaging 1.00
R7092:Slco1a5 UTSW 6 142,194,401 (GRCm39) missense probably benign
R7207:Slco1a5 UTSW 6 142,194,475 (GRCm39) nonsense probably null
R7356:Slco1a5 UTSW 6 142,180,458 (GRCm39) missense probably benign 0.01
R7430:Slco1a5 UTSW 6 142,194,438 (GRCm39) missense probably benign 0.00
R7445:Slco1a5 UTSW 6 142,204,734 (GRCm39) missense possibly damaging 0.93
R7499:Slco1a5 UTSW 6 142,208,257 (GRCm39) splice site probably null
R7579:Slco1a5 UTSW 6 142,221,207 (GRCm39) missense probably benign 0.00
R8117:Slco1a5 UTSW 6 142,208,418 (GRCm39) missense probably damaging 1.00
R8209:Slco1a5 UTSW 6 142,208,408 (GRCm39) missense probably damaging 1.00
R8217:Slco1a5 UTSW 6 142,221,202 (GRCm39) missense probably benign 0.13
R8358:Slco1a5 UTSW 6 142,208,411 (GRCm39) missense probably benign 0.45
R8710:Slco1a5 UTSW 6 142,198,828 (GRCm39) missense probably benign 0.03
R9071:Slco1a5 UTSW 6 142,196,052 (GRCm39) missense possibly damaging 0.50
R9316:Slco1a5 UTSW 6 142,195,935 (GRCm39) missense probably damaging 0.99
R9427:Slco1a5 UTSW 6 142,214,001 (GRCm39) missense probably damaging 0.98
R9619:Slco1a5 UTSW 6 142,198,846 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GGGCTTCTTCACACTAAATCCAG -3'
(R):5'- CATGGCAGAGCAGAGATTACAC -3'

Sequencing Primer
(F):5'- GCTATTTCATCACCATTAAGACGC -3'
(R):5'- GGATACAGTCATCCATCTCATTGTGG -3'
Posted On 2015-02-18