Incidental Mutation 'R4577:Slco1a4'
ID 342548
Institutional Source Beutler Lab
Gene Symbol Slco1a4
Ensembl Gene ENSMUSG00000030237
Gene Name solute carrier organic anion transporter family, member 1a4
Synonyms Oatp2, Oatp1a4, Slc21a5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4577 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 141751166-141801925 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141765266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 325 (S325R)
Ref Sequence ENSEMBL: ENSMUSP00000130746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032364] [ENSMUST00000165990]
AlphaFold Q9EP96
Predicted Effect probably damaging
Transcript: ENSMUST00000032364
AA Change: S325R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: S325R

DomainStartEndE-ValueType
Pfam:OATP 19 598 3.2e-196 PFAM
Pfam:MFS_1 22 421 9.2e-27 PFAM
Pfam:Kazal_2 445 486 5e-10 PFAM
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165990
AA Change: S325R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: S325R

DomainStartEndE-ValueType
Pfam:OATP 21 597 3.2e-164 PFAM
Pfam:MFS_1 22 421 7.2e-27 PFAM
Pfam:Kazal_2 445 486 6.8e-11 PFAM
transmembrane domain 600 622 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,430,323 (GRCm39) I222S probably damaging Het
Abca1 C A 4: 53,062,568 (GRCm39) C1429F possibly damaging Het
Acacb A G 5: 114,364,892 (GRCm39) E1524G probably damaging Het
Ankrd50 A G 3: 38,510,090 (GRCm39) V759A probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cacna1e A T 1: 154,277,773 (GRCm39) S2060T possibly damaging Het
Cand2 G A 6: 115,768,220 (GRCm39) C455Y probably damaging Het
Cdh16 T C 8: 105,345,191 (GRCm39) D366G probably damaging Het
Cep170b A G 12: 112,711,152 (GRCm39) R595G probably damaging Het
Chaf1a G A 17: 56,372,184 (GRCm39) R784Q probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clca4a C A 3: 144,660,730 (GRCm39) S698I probably damaging Het
Dnah5 A C 15: 28,289,396 (GRCm39) Y1195S probably benign Het
Dynlt4 A G 4: 116,985,812 (GRCm39) T212A possibly damaging Het
Dysf T C 6: 84,114,308 (GRCm39) I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
F3 A G 3: 121,527,763 (GRCm39) I254V probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 (GRCm39) F270S probably damaging Het
Galnt3 T C 2: 65,928,203 (GRCm39) Y231C probably benign Het
Gm10220 A C 5: 26,322,869 (GRCm39) I181S probably benign Het
Gnb5 G A 9: 75,250,823 (GRCm39) V316I possibly damaging Het
Gys2 A G 6: 142,400,236 (GRCm39) F325S possibly damaging Het
Hmgn2 G A 4: 133,694,668 (GRCm39) probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Iqub A T 6: 24,501,290 (GRCm39) I220N probably damaging Het
Jmjd1c A G 10: 67,085,529 (GRCm39) T2259A probably damaging Het
Kcnq3 T C 15: 66,158,063 (GRCm39) K4R unknown Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
L3mbtl2 G A 15: 81,570,486 (GRCm39) E655K probably benign Het
Lrp1b C T 2: 40,711,731 (GRCm39) C3163Y probably damaging Het
Map3k19 T A 1: 127,750,550 (GRCm39) R934* probably null Het
Map4 A G 9: 109,910,489 (GRCm39) T1061A possibly damaging Het
Mbnl1 G A 3: 60,437,199 (GRCm39) V50I probably damaging Het
Med15 G A 16: 17,492,379 (GRCm39) Q132* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mtmr3 G C 11: 4,447,375 (GRCm39) L361V probably damaging Het
Myo5a A G 9: 75,124,827 (GRCm39) E1792G probably damaging Het
Nup88 C A 11: 70,860,543 (GRCm39) A55S probably damaging Het
Or1ab2 T A 8: 72,864,167 (GRCm39) Y252* probably null Het
Or4a79 T C 2: 89,552,387 (GRCm39) K23E possibly damaging Het
Pacs1 G T 19: 5,193,861 (GRCm39) S556* probably null Het
Parp4 A G 14: 56,827,867 (GRCm39) E206G probably benign Het
Paxbp1 T G 16: 90,812,042 (GRCm39) K889N probably damaging Het
Pcdhga2 G A 18: 37,802,302 (GRCm39) A49T possibly damaging Het
Pcsk6 T A 7: 65,609,014 (GRCm39) L292* probably null Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Plec C A 15: 76,068,269 (GRCm39) Q1142H possibly damaging Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Prss28 T C 17: 25,529,079 (GRCm39) V140A probably damaging Het
Rad17 A T 13: 100,769,786 (GRCm39) S258T probably damaging Het
Rnf111 A T 9: 70,336,866 (GRCm39) C932* probably null Het
Sdc2 T C 15: 33,017,278 (GRCm39) Y31H probably damaging Het
Selenoh T C 2: 84,500,675 (GRCm39) E55G possibly damaging Het
Serpina3k T G 12: 104,310,451 (GRCm39) V327G possibly damaging Het
Setd1b A G 5: 123,286,679 (GRCm39) E575G unknown Het
Smtnl1 C A 2: 84,648,787 (GRCm39) V156L possibly damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Speg A G 1: 75,392,039 (GRCm39) D1607G probably damaging Het
Tmem101 T A 11: 102,046,663 (GRCm39) M69L possibly damaging Het
Treh G A 9: 44,597,208 (GRCm39) M542I probably benign Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Ttc6 T C 12: 57,623,441 (GRCm39) I280T probably benign Het
Ubtfl1 A G 9: 18,320,789 (GRCm39) T106A probably damaging Het
Wdr27 T C 17: 15,123,724 (GRCm39) H583R probably benign Het
Xirp2 C T 2: 67,344,241 (GRCm39) P2161S probably damaging Het
Other mutations in Slco1a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Slco1a4 APN 6 141,752,908 (GRCm39) critical splice acceptor site probably null
IGL01573:Slco1a4 APN 6 141,758,577 (GRCm39) splice site probably benign
IGL01735:Slco1a4 APN 6 141,763,477 (GRCm39) missense probably benign 0.00
IGL03115:Slco1a4 APN 6 141,763,585 (GRCm39) missense probably damaging 1.00
IGL03115:Slco1a4 APN 6 141,765,329 (GRCm39) missense probably benign 0.05
R0062:Slco1a4 UTSW 6 141,765,205 (GRCm39) nonsense probably null
R0062:Slco1a4 UTSW 6 141,765,205 (GRCm39) nonsense probably null
R0305:Slco1a4 UTSW 6 141,763,479 (GRCm39) missense possibly damaging 0.47
R0511:Slco1a4 UTSW 6 141,776,586 (GRCm39) splice site probably benign
R0660:Slco1a4 UTSW 6 141,758,467 (GRCm39) missense probably benign 0.05
R0664:Slco1a4 UTSW 6 141,758,467 (GRCm39) missense probably benign 0.05
R1589:Slco1a4 UTSW 6 141,791,173 (GRCm39) missense probably benign
R1606:Slco1a4 UTSW 6 141,785,337 (GRCm39) missense probably damaging 1.00
R1665:Slco1a4 UTSW 6 141,785,303 (GRCm39) missense possibly damaging 0.79
R1742:Slco1a4 UTSW 6 141,770,771 (GRCm39) missense probably benign 0.07
R1763:Slco1a4 UTSW 6 141,758,457 (GRCm39) missense probably benign 0.26
R1893:Slco1a4 UTSW 6 141,780,342 (GRCm39) splice site probably null
R1908:Slco1a4 UTSW 6 141,761,173 (GRCm39) critical splice donor site probably null
R1944:Slco1a4 UTSW 6 141,785,276 (GRCm39) missense probably benign 0.00
R2144:Slco1a4 UTSW 6 141,755,104 (GRCm39) missense probably damaging 1.00
R2276:Slco1a4 UTSW 6 141,761,308 (GRCm39) missense possibly damaging 0.49
R2340:Slco1a4 UTSW 6 141,787,103 (GRCm39) missense probably benign 0.00
R3017:Slco1a4 UTSW 6 141,758,396 (GRCm39) splice site probably null
R3769:Slco1a4 UTSW 6 141,785,357 (GRCm39) missense probably damaging 1.00
R4650:Slco1a4 UTSW 6 141,758,424 (GRCm39) missense possibly damaging 0.94
R4801:Slco1a4 UTSW 6 141,791,223 (GRCm39) start gained probably benign
R4802:Slco1a4 UTSW 6 141,791,223 (GRCm39) start gained probably benign
R4896:Slco1a4 UTSW 6 141,761,231 (GRCm39) missense possibly damaging 0.91
R5126:Slco1a4 UTSW 6 141,761,308 (GRCm39) missense possibly damaging 0.94
R5183:Slco1a4 UTSW 6 141,785,357 (GRCm39) missense probably damaging 1.00
R5399:Slco1a4 UTSW 6 141,776,433 (GRCm39) missense probably damaging 0.98
R5645:Slco1a4 UTSW 6 141,780,385 (GRCm39) missense possibly damaging 0.95
R5650:Slco1a4 UTSW 6 141,755,120 (GRCm39) missense possibly damaging 0.69
R5832:Slco1a4 UTSW 6 141,765,270 (GRCm39) missense probably benign 0.00
R6180:Slco1a4 UTSW 6 141,763,546 (GRCm39) missense possibly damaging 0.95
R6415:Slco1a4 UTSW 6 141,780,415 (GRCm39) nonsense probably null
R6992:Slco1a4 UTSW 6 141,765,330 (GRCm39) missense probably benign 0.05
R7024:Slco1a4 UTSW 6 141,780,434 (GRCm39) missense probably benign 0.00
R7696:Slco1a4 UTSW 6 141,756,237 (GRCm39) nonsense probably null
R7751:Slco1a4 UTSW 6 141,780,413 (GRCm39) missense possibly damaging 0.47
R8743:Slco1a4 UTSW 6 141,765,255 (GRCm39) missense possibly damaging 0.93
R9173:Slco1a4 UTSW 6 141,761,299 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCATGCACTTGAGGATAGATACTG -3'
(R):5'- CAAATGCAGTTTTGTCACAGCAC -3'

Sequencing Primer
(F):5'- GTCATGGAGTCTCTTCACAGCAG -3'
(R):5'- GCAGTTTTGTCACAGCACAGAATC -3'
Posted On 2015-09-24