Incidental Mutation 'IGL02150:Slco2a1'
ID281944
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 #IGL02150
Quality Score
Status
Chromosome9
Chromosomal Location102988712-103096002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103084818 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 563 (A563V)
Ref Sequence ENSEMBL: ENSMUSP00000035148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035148] [ENSMUST00000188664]
Predicted Effect probably damaging
Transcript: ENSMUST00000035148
AA Change: A563V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: A563V

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 probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216778
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,297,859 G918D possibly damaging Het
9530053A07Rik T A 7: 28,146,779 Y965* probably null Het
AI464131 A G 4: 41,499,183 V149A possibly damaging Het
Ankdd1a C T 9: 65,512,719 G92S probably damaging Het
Arid1a A T 4: 133,687,257 M1221K unknown Het
Arl10 G A 13: 54,578,849 V147M probably damaging Het
Bbs4 T C 9: 59,336,368 N152S probably benign Het
Cacna2d2 T G 9: 107,527,316 probably benign Het
Capn9 A G 8: 124,613,843 E582G probably benign Het
Cct2 A T 10: 117,062,099 L61Q probably damaging Het
Clip4 A G 17: 71,799,076 I85V probably damaging Het
Daam2 A T 17: 49,490,304 L151Q possibly damaging Het
Dlst T A 12: 85,131,033 I400N possibly damaging Het
Dock7 A T 4: 99,079,852 probably benign Het
Dynlrb2 A G 8: 116,515,710 N93S probably benign Het
Efl1 A G 7: 82,686,691 T407A probably benign Het
Emilin1 A G 5: 30,920,173 D891G possibly damaging Het
Enpp4 A C 17: 44,102,158 S162A probably benign Het
Epas1 A G 17: 86,805,289 D105G probably damaging Het
Gcn1l1 T A 5: 115,609,868 I1778N probably damaging Het
Gm14496 A C 2: 181,991,347 D41A probably damaging Het
Gm7008 T A 12: 40,223,258 probably benign Het
Hcfc2 G A 10: 82,710,018 S246N probably damaging Het
Hectd1 T C 12: 51,769,191 N1366S probably damaging Het
Lgmn T C 12: 102,395,727 R372G possibly damaging Het
Map2k7 A G 8: 4,243,818 M153V possibly damaging Het
Megf8 T A 7: 25,346,417 probably null Het
Mgat4c A C 10: 102,389,122 E399A probably benign Het
Nfat5 C T 8: 107,367,952 Q942* probably null Het
Notch4 A G 17: 34,584,613 E1502G probably damaging Het
Olfr6 G T 7: 106,956,556 P127T probably damaging Het
Olfr895 A T 9: 38,269,268 I252L possibly damaging Het
Optn A C 2: 5,033,152 I410M probably damaging Het
Ppp1ca G A 19: 4,194,699 probably benign Het
Pramel5 C A 4: 144,273,201 L105F possibly damaging Het
Rad54b T A 4: 11,610,502 N706K probably damaging Het
Rgs11 A T 17: 26,202,994 T6S probably benign Het
Sbf1 T C 15: 89,295,480 H1308R probably benign Het
Sec31a T C 5: 100,386,125 probably benign Het
Sh2d5 G A 4: 138,258,242 D334N probably benign Het
Skint5 T A 4: 113,885,791 I360F unknown Het
Slc12a1 G A 2: 125,184,815 D457N probably damaging Het
Snrnp35 G A 5: 124,490,408 A95T probably damaging Het
Snx25 C A 8: 46,116,281 R193L possibly damaging Het
Stxbp5 T G 10: 9,762,821 Q1078P probably damaging Het
Tmc2 A T 2: 130,240,153 I419F probably damaging Het
Tmem87a A T 2: 120,360,076 W525R probably damaging Het
Trhde A T 10: 114,592,108 S428T probably damaging Het
Trp73 G A 4: 154,081,486 A42V possibly damaging Het
Ttn T C 2: 76,848,972 probably benign Het
Ttn C T 2: 76,768,502 V19356M probably damaging Het
Vmn1r170 T A 7: 23,607,040 L289* probably null Het
Vwa5b2 A T 16: 20,604,826 Q1163L probably benign Het
Washc2 T A 6: 116,231,632 probably benign Het
Wdr70 T G 15: 8,082,546 K71T possibly damaging Het
Zbtb41 T C 1: 139,440,448 S625P possibly damaging Het
Zfp518b A G 5: 38,673,789 V291A probably damaging Het
Zfp518b A G 5: 38,673,343 S440P probably damaging Het
Zmym2 G A 14: 56,911,069 probably benign 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
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
IGL03101:Slco2a1 APN 9 103077006 missense possibly damaging 0.69
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
R7325:Slco2a1 UTSW 9 103085749 splice site probably null
R7484:Slco2a1 UTSW 9 103067986 missense probably damaging 1.00
Z1088:Slco2a1 UTSW 9 103079527 missense probably benign 0.03
Posted On2015-04-16