Incidental Mutation 'IGL03101:Slco2a1'
ID |
418745 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slco2a1
|
Ensembl Gene |
ENSMUSG00000032548 |
Gene Name |
solute carrier organic anion transporter family, member 2a1 |
Synonyms |
Pgt, mPgt, Slc21a2, 2310021C19Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03101
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102954205 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q9EPT5 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
Other mutations in Slco2a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Slco2a1
|
APN |
9 |
102,956,640 (GRCm39) |
splice site |
probably benign |
|
IGL01481:Slco2a1
|
APN |
9 |
102,947,450 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01647:Slco2a1
|
APN |
9 |
102,947,495 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01885:Slco2a1
|
APN |
9 |
102,951,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Slco2a1
|
APN |
9 |
102,962,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02508:Slco2a1
|
APN |
9 |
102,951,615 (GRCm39) |
missense |
probably benign |
|
IGL02578:Slco2a1
|
APN |
9 |
102,923,957 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02622:Slco2a1
|
APN |
9 |
102,954,128 (GRCm39) |
nonsense |
probably null |
|
IGL02898:Slco2a1
|
APN |
9 |
102,956,805 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4431001:Slco2a1
|
UTSW |
9 |
102,927,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0410:Slco2a1
|
UTSW |
9 |
102,950,513 (GRCm39) |
critical splice donor site |
probably null |
|
R0831:Slco2a1
|
UTSW |
9 |
102,959,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R0885:Slco2a1
|
UTSW |
9 |
102,959,582 (GRCm39) |
missense |
probably damaging |
0.98 |
R1975:Slco2a1
|
UTSW |
9 |
102,956,653 (GRCm39) |
nonsense |
probably null |
|
R2095:Slco2a1
|
UTSW |
9 |
102,954,167 (GRCm39) |
missense |
probably benign |
0.22 |
R4072:Slco2a1
|
UTSW |
9 |
102,945,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Slco2a1
|
UTSW |
9 |
102,950,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4105:Slco2a1
|
UTSW |
9 |
102,945,075 (GRCm39) |
missense |
probably benign |
0.01 |
R4804:Slco2a1
|
UTSW |
9 |
102,950,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Slco2a1
|
UTSW |
9 |
102,963,031 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5073:Slco2a1
|
UTSW |
9 |
102,923,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R5124:Slco2a1
|
UTSW |
9 |
102,927,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R5147:Slco2a1
|
UTSW |
9 |
102,927,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R5317:Slco2a1
|
UTSW |
9 |
102,956,778 (GRCm39) |
missense |
probably benign |
0.01 |
R5363:Slco2a1
|
UTSW |
9 |
102,947,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R5381:Slco2a1
|
UTSW |
9 |
102,945,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R5732:Slco2a1
|
UTSW |
9 |
102,927,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R5736:Slco2a1
|
UTSW |
9 |
102,945,029 (GRCm39) |
missense |
probably benign |
0.00 |
R5924:Slco2a1
|
UTSW |
9 |
102,923,898 (GRCm39) |
nonsense |
probably null |
|
R5945:Slco2a1
|
UTSW |
9 |
102,923,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6293:Slco2a1
|
UTSW |
9 |
102,927,346 (GRCm39) |
missense |
probably benign |
0.30 |
R6386:Slco2a1
|
UTSW |
9 |
102,954,187 (GRCm39) |
missense |
probably benign |
|
R6622:Slco2a1
|
UTSW |
9 |
102,951,704 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7325:Slco2a1
|
UTSW |
9 |
102,962,948 (GRCm39) |
splice site |
probably null |
|
R7484:Slco2a1
|
UTSW |
9 |
102,945,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8395:Slco2a1
|
UTSW |
9 |
102,954,239 (GRCm39) |
missense |
probably benign |
0.12 |
R8985:Slco2a1
|
UTSW |
9 |
102,949,834 (GRCm39) |
critical splice donor site |
probably null |
|
R9127:Slco2a1
|
UTSW |
9 |
102,945,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Slco2a1
|
UTSW |
9 |
102,945,254 (GRCm39) |
splice site |
probably benign |
|
R9620:Slco2a1
|
UTSW |
9 |
102,962,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Slco2a1
|
UTSW |
9 |
102,962,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1088:Slco2a1
|
UTSW |
9 |
102,956,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |