Incidental Mutation 'R6466:Slco1a5'
ID 516576
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 044599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142179953-142268707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142183260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 555 (T555A)
Ref Sequence ENSEMBL: ENSMUSP00000137607 (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: T555A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: T555A

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: T555A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: T555A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157614
Meta Mutation Damage Score 0.0987 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 121,335,735 (GRCm39) D69E probably damaging Het
AAdacl4fm3 T A 4: 144,430,437 (GRCm39) D184V probably damaging Het
Adgrv1 G T 13: 81,723,220 (GRCm39) probably null Het
Ahr A T 12: 35,554,031 (GRCm39) V696E probably benign Het
Akap13 A G 7: 75,376,792 (GRCm39) T2007A probably benign Het
Arid1b T C 17: 5,377,953 (GRCm39) F753S probably damaging Het
Bpifb3 G T 2: 153,764,108 (GRCm39) K105N probably damaging Het
C2cd2 A G 16: 97,680,822 (GRCm39) C331R probably benign Het
Chrm1 T A 19: 8,655,542 (GRCm39) Y82* probably null Het
Clcn3 A C 8: 61,382,595 (GRCm39) V331G probably damaging Het
Dchs1 A T 7: 105,413,748 (GRCm39) D1022E probably benign Het
Dnah2 T A 11: 69,430,241 (GRCm39) T106S probably benign Het
Fam171a2 T A 11: 102,330,711 (GRCm39) D256V probably damaging Het
Firrm G T 1: 163,781,734 (GRCm39) R898S probably benign Het
Fmn2 T A 1: 174,437,149 (GRCm39) probably benign Het
Fut11 C T 14: 20,745,377 (GRCm39) R103W probably damaging Het
Gas2l2 A C 11: 83,320,179 (GRCm39) S26A probably damaging Het
Gramd1a A T 7: 30,843,221 (GRCm39) I29N probably benign Het
Grem2 A G 1: 174,664,450 (GRCm39) V133A probably damaging Het
Hydin T A 8: 111,233,600 (GRCm39) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,676,023 (GRCm39) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm39) Q68R probably damaging Het
Irx5 A G 8: 93,086,354 (GRCm39) I146V probably damaging Het
Kcnh3 T C 15: 99,136,124 (GRCm39) L707P probably damaging Het
Kcnk4 T A 19: 6,905,665 (GRCm39) I101F probably damaging Het
Klhl9 A G 4: 88,639,399 (GRCm39) Y281H probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lmbr1 C T 5: 29,583,166 (GRCm39) A9T probably benign Het
Map10 G T 8: 126,399,123 (GRCm39) E839* probably null Het
Nectin4 C A 1: 171,214,321 (GRCm39) A492D probably damaging Het
Nfat5 T A 8: 108,082,140 (GRCm39) probably null Het
Or5p5 A G 7: 107,413,901 (GRCm39) T37A probably benign Het
Plec A G 15: 76,062,084 (GRCm39) Y2608H probably benign Het
Pold3 A G 7: 99,749,839 (GRCm39) S42P probably benign Het
Ppp2r1a G T 17: 21,180,893 (GRCm39) G432* probably null Het
Qki T C 17: 10,434,394 (GRCm39) E315G probably benign Het
Rfx2 C T 17: 57,091,397 (GRCm39) V354I probably benign Het
Rp1 T C 1: 4,418,109 (GRCm39) Y1001C probably benign Het
Sez6l A G 5: 112,609,007 (GRCm39) probably null Het
Slc39a14 A G 14: 70,547,335 (GRCm39) I337T probably damaging Het
Slc3a2 G T 19: 8,686,683 (GRCm39) L76M probably damaging Het
Sprr2e A T 3: 92,260,341 (GRCm39) K57N unknown Het
Syne2 A G 12: 75,990,675 (GRCm39) T1886A probably damaging Het
Tenm3 A T 8: 48,689,098 (GRCm39) I2147N probably damaging Het
Thbs1 G T 2: 117,950,328 (GRCm39) G654W probably damaging Het
Tigd5 A G 15: 75,782,352 (GRCm39) Y238C possibly damaging Het
Tmem221 A G 8: 72,010,493 (GRCm39) F126S probably damaging Het
Trp63 C A 16: 25,582,108 (GRCm39) P52Q probably damaging Het
Ugp2 A T 11: 21,278,883 (GRCm39) S434R probably benign Het
Vmn2r69 A C 7: 85,056,378 (GRCm39) F587V probably benign Het
Vps13d T A 4: 144,784,065 (GRCm39) N3872I possibly damaging Het
Wdfy2 A G 14: 63,186,115 (GRCm39) Y250C probably damaging Het
Zbtb16 T C 9: 48,576,619 (GRCm39) D487G 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
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'- GGAGAACACACCTATGTTAAAGATG -3'
(R):5'- GCATTAGGATCATGAACTACCAC -3'

Sequencing Primer
(F):5'- GATAACCTGAATCTGTGTGCCCAAG -3'
(R):5'- CTACCACTGTCATTGGGAAGATGC -3'
Posted On 2018-05-21