Incidental Mutation 'IGL03101:Slco2a1'
ID418745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco2a1
Ensembl Gene ENSMUSG00000032548
Gene Namesolute carrier organic anion transporter family, member 2a1
SynonymsPgt, mPgt, 2310021C19Rik, Slc21a2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03101
Quality Score
Status
Chromosome9
Chromosomal Location102988712-103096002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103077006 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 459 (G459R)
Ref Sequence ENSEMBL: ENSMUSP00000035148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035148] [ENSMUST00000188664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035148
AA Change: G459R

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: G459R

DomainStartEndE-ValueType
Pfam:MFS_1 39 428 3.5e-22 PFAM
KAZAL 446 493 2.78e-2 SMART
transmembrane domain 605 627 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000188664
SMART Domains Protein: ENSMUSP00000140533
Gene: ENSMUSG00000032548

DomainStartEndE-ValueType
Pfam:OATP 31 381 4.8e-135 PFAM
Pfam:MFS_1 39 413 1.8e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preinatel or early psotnatal lethality due to a patent ductus arteriosus and abnormal protaglandin metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 A T 7: 110,060,970 probably benign Het
Abcc1 T A 16: 14,389,868 V23D probably damaging Het
Adam8 G T 7: 139,988,543 N260K possibly damaging Het
Ap3b1 A T 13: 94,455,398 I457L probably benign Het
Apaf1 T C 10: 91,031,559 N808S possibly damaging Het
Arhgef26 A G 3: 62,419,661 T532A possibly damaging Het
Cfap65 G T 1: 74,928,433 T162N possibly damaging Het
Clec12b A G 6: 129,379,517 probably null Het
Creb3 T C 4: 43,563,081 V60A probably benign Het
Cyp11b1 A G 15: 74,835,854 F469L probably benign Het
Defb28 A T 2: 152,520,127 E69V possibly damaging Het
Etnppl T C 3: 130,622,318 L118S probably damaging Het
Fsip1 T C 2: 118,241,663 Y213C probably damaging Het
Glb1l2 A G 9: 26,765,125 W480R probably damaging Het
Gm12394 T C 4: 42,793,424 D236G possibly damaging Het
Herc1 A T 9: 66,487,997 M4205L probably benign Het
Kif5a A T 10: 127,235,609 probably benign Het
Lmbrd2 C T 15: 9,186,608 R557C probably damaging Het
Map4k3 A G 17: 80,655,855 probably null Het
Npc1 A G 18: 12,198,539 I858T probably benign Het
Olfr866 T C 9: 20,027,429 T170A probably benign Het
Pecam1 A G 11: 106,697,351 V92A probably damaging Het
Rbm43 A T 2: 51,926,745 I70N probably benign Het
Rps6kb1 T C 11: 86,502,882 Y474C probably benign Het
Snca T A 6: 60,827,611 probably benign Het
Stap2 T A 17: 56,002,029 I113F probably damaging Het
Tas2r137 T C 6: 40,491,830 M198T probably benign Het
Trim9 T C 12: 70,346,654 E172G probably damaging Het
Ttll7 T C 3: 146,896,690 V81A possibly damaging Het
Vmn2r103 A G 17: 19,773,520 Y53C probably damaging Het
Vmn2r22 C A 6: 123,637,336 A432S probably benign Het
Zfp943 T C 17: 21,992,175 S81P probably damaging Het
Other mutations in Slco2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Slco2a1 APN 9 103079441 splice site probably benign
IGL01481:Slco2a1 APN 9 103070251 missense probably damaging 1.00
IGL01647:Slco2a1 APN 9 103070296 missense possibly damaging 0.57
IGL01885:Slco2a1 APN 9 103074430 missense probably damaging 1.00
IGL02150:Slco2a1 APN 9 103084818 missense probably damaging 1.00
IGL02508:Slco2a1 APN 9 103074416 missense probably benign
IGL02578:Slco2a1 APN 9 103046758 missense probably damaging 1.00
IGL02622:Slco2a1 APN 9 103076929 nonsense probably null
IGL02898:Slco2a1 APN 9 103079606 missense probably damaging 1.00
PIT4431001:Slco2a1 UTSW 9 103050268 missense probably damaging 1.00
R0410:Slco2a1 UTSW 9 103073314 critical splice donor site probably null
R0831:Slco2a1 UTSW 9 103082334 missense probably damaging 0.99
R0885:Slco2a1 UTSW 9 103082383 missense probably damaging 0.98
R1975:Slco2a1 UTSW 9 103079454 nonsense probably null
R2095:Slco2a1 UTSW 9 103076968 missense probably benign 0.22
R4072:Slco2a1 UTSW 9 103068002 missense probably damaging 1.00
R4105:Slco2a1 UTSW 9 103067876 missense probably benign 0.01
R4105:Slco2a1 UTSW 9 103073250 missense probably damaging 1.00
R4804:Slco2a1 UTSW 9 103073184 missense probably damaging 1.00
R4881:Slco2a1 UTSW 9 103085832 missense possibly damaging 0.71
R5073:Slco2a1 UTSW 9 103046726 missense probably damaging 1.00
R5124:Slco2a1 UTSW 9 103050166 missense probably damaging 1.00
R5147:Slco2a1 UTSW 9 103050269 missense probably damaging 1.00
R5317:Slco2a1 UTSW 9 103079579 missense probably benign 0.01
R5363:Slco2a1 UTSW 9 103070263 missense probably damaging 0.99
R5381:Slco2a1 UTSW 9 103068014 missense probably damaging 1.00
R5732:Slco2a1 UTSW 9 103050256 missense probably damaging 1.00
R5736:Slco2a1 UTSW 9 103067830 missense probably benign 0.00
R5924:Slco2a1 UTSW 9 103046699 nonsense probably null
R5945:Slco2a1 UTSW 9 103046790 missense probably damaging 1.00
R6293:Slco2a1 UTSW 9 103050147 missense probably benign 0.30
R6386:Slco2a1 UTSW 9 103076988 missense probably benign
R6622:Slco2a1 UTSW 9 103074505 missense possibly damaging 0.84
Z1088:Slco2a1 UTSW 9 103079527 missense probably benign 0.03
Posted On2016-08-02