Incidental Mutation 'R7430:Slco1a5'
ID 576392
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 045508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 142179953-142268707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142194438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 402 (S402T)
Ref Sequence ENSEMBL: ENSMUSP00000080116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081380] [ENSMUST00000111825] [ENSMUST00000153268]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081380
AA Change: S402T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: S402T

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 probably benign
Transcript: ENSMUST00000111825
AA Change: S402T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: S402T

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: ENSMUST00000153268
SMART Domains Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:OATP 19 74 3.4e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G C 17: 24,583,932 (GRCm39) probably null Het
Ankrd17 C G 5: 90,443,516 (GRCm39) E384Q possibly damaging Het
Atp8b4 A T 2: 126,245,291 (GRCm39) V286E possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC 3: 95,795,481 (GRCm39) probably benign Het
Brms1l T C 12: 55,892,084 (GRCm39) L126P probably damaging Het
C2cd4d G A 3: 94,271,657 (GRCm39) V308M possibly damaging Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Card6 G T 15: 5,128,682 (GRCm39) Q905K probably benign Het
Chka A G 19: 3,942,787 (GRCm39) Y415C probably damaging Het
Cimap3 T C 3: 105,921,834 (GRCm39) R30G probably benign Het
Cnih1 C T 14: 47,017,679 (GRCm39) V52I possibly damaging Het
Cox4i1 T A 8: 121,400,770 (GRCm39) M145K probably damaging Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyfip1 A G 7: 55,550,341 (GRCm39) E692G probably damaging Het
Dnah8 T C 17: 30,925,363 (GRCm39) F1266S probably damaging Het
Edc4 T C 8: 106,618,216 (GRCm39) S1245P probably damaging Het
Enpp1 G T 10: 24,587,848 (GRCm39) H14Q probably benign Het
Fam181b G A 7: 92,729,403 (GRCm39) V59M probably benign Het
Fat4 T A 3: 38,941,599 (GRCm39) I164N probably damaging Het
Fat4 A G 3: 39,063,793 (GRCm39) D4583G probably damaging Het
Fgb C T 3: 82,954,014 (GRCm39) V75I probably benign Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Frmd3 A G 4: 74,063,342 (GRCm39) D223G probably damaging Het
Gclm G A 3: 122,039,729 (GRCm39) R32Q probably benign Het
Grsf1 A T 5: 88,811,086 (GRCm39) I428N possibly damaging Het
Hnrnpll T A 17: 80,357,276 (GRCm39) I247F probably damaging Het
Hscb T A 5: 110,977,024 (GRCm39) I223L probably benign Het
Ifi204 C T 1: 173,583,247 (GRCm39) A324T probably benign Het
Itgav G A 2: 83,624,602 (GRCm39) V731M probably damaging Het
Loricrin C T 3: 91,989,206 (GRCm39) G27S unknown Het
Lpin3 A G 2: 160,740,586 (GRCm39) D377G probably benign Het
Marveld3 A G 8: 110,675,100 (GRCm39) S239P possibly damaging Het
Mast3 A C 8: 71,232,947 (GRCm39) C1122G probably damaging Het
Ms4a4d A G 19: 11,535,297 (GRCm39) I198M probably benign Het
Mup14 C T 4: 61,259,447 (GRCm39) G35E probably damaging Het
Myh1 C T 11: 67,096,393 (GRCm39) Q291* probably null Het
Myo1a T A 10: 127,542,716 (GRCm39) V118E probably damaging Het
Nfatc3 A G 8: 106,835,035 (GRCm39) T794A probably benign Het
Nkx6-2 T C 7: 139,161,916 (GRCm39) T154A probably damaging Het
Or51g2 A T 7: 102,622,969 (GRCm39) S77T probably damaging Het
Or7g16 T C 9: 18,726,650 (GRCm39) *313W probably null Het
Ovgp1 G C 3: 105,893,618 (GRCm39) A464P probably damaging Het
Ovgp1 C T 3: 105,893,619 (GRCm39) A464V possibly damaging Het
Pde6c T A 19: 38,129,887 (GRCm39) Y266N probably damaging Het
Per2 C A 1: 91,351,705 (GRCm39) E934* probably null Het
Pgm1 T A 4: 99,813,192 (GRCm39) M1K probably null Het
Plcb4 T C 2: 135,810,242 (GRCm39) Y626H probably damaging Het
Postn T A 3: 54,277,623 (GRCm39) V206D probably damaging Het
Prss29 T A 17: 25,540,113 (GRCm39) probably null Het
Ptges3l C A 11: 101,314,641 (GRCm39) V85L possibly damaging Het
Riok2 T C 17: 17,607,802 (GRCm39) L450S probably benign Het
Rpap3 A T 15: 97,586,031 (GRCm39) L320Q possibly damaging Het
Rptor T C 11: 119,737,654 (GRCm39) W576R probably damaging Het
Sgk3 A G 1: 9,942,483 (GRCm39) D85G probably benign Het
Slc2a1 A G 4: 118,993,510 (GRCm39) Y449C probably damaging Het
Smad2 T A 18: 76,421,151 (GRCm39) V160E probably damaging Het
Snx13 T C 12: 35,183,357 (GRCm39) V760A possibly damaging Het
Sugt1 T A 14: 79,857,241 (GRCm39) probably null Het
Syne2 C T 12: 75,980,770 (GRCm39) T1509M probably damaging Het
Syne2 T A 12: 76,087,184 (GRCm39) L214* probably null Het
Tmem120a T A 5: 135,764,990 (GRCm39) probably null Het
Tmem161b A G 13: 84,430,866 (GRCm39) probably null Het
Trim33 T C 3: 103,218,219 (GRCm39) I256T possibly damaging Het
Tspan17 G A 13: 54,943,785 (GRCm39) E213K probably benign Het
Ttc6 T A 12: 57,704,888 (GRCm39) I631N probably benign Het
Ttn T A 2: 76,641,283 (GRCm39) L13574F probably damaging Het
Tufm A G 7: 126,088,299 (GRCm39) D228G probably benign Het
Usf1 T A 1: 171,245,295 (GRCm39) S236T probably benign Het
Usp39 T C 6: 72,319,900 (GRCm39) Y106C probably damaging Het
Usp46 T A 5: 74,163,849 (GRCm39) Y296F probably damaging Het
Vmn2r82 A G 10: 79,217,087 (GRCm39) N473S probably damaging Het
Washc5 A T 15: 59,241,762 (GRCm39) Y51* probably null Het
Zbtb47 G A 9: 121,592,732 (GRCm39) D351N probably benign Het
Zfp763 T A 17: 33,238,506 (GRCm39) Y213F possibly damaging Het
Zswim5 A G 4: 116,833,054 (GRCm39) T596A possibly 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
R3421: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
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'- CTGCTATAGGATTGATGGGTAGAC -3'
(R):5'- CCTCTTTGTATATAATAGGCAAGCGAG -3'

Sequencing Primer
(F):5'- TACAAGAAAAACATGGATCACTGC -3'
(R):5'- GCGAGTAGGATTTAAAATCATTTGC -3'
Posted On 2019-10-07