Incidental Mutation 'IGL02578:Slco2a1'
| ID |
299270 |
| 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 # |
IGL02578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102923957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 57
(T57I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035148]
[ENSMUST00000188664]
|
| AlphaFold |
Q9EPT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035148
AA Change: T57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: T57I
| 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 |
probably damaging
Transcript: ENSMUST00000188664
AA Change: T57I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140533
Gene: ENSMUSG00000032548
AA Change: T57I
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,023,179 (GRCm39) |
|
probably null |
Het |
| Ago1 |
T |
A |
4: 126,333,324 (GRCm39) |
D545V |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,270,116 (GRCm39) |
S1410P |
probably benign |
Het |
| Cbfa2t3 |
T |
A |
8: 123,360,187 (GRCm39) |
D488V |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,240,094 (GRCm39) |
D194G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,466,939 (GRCm39) |
Q208R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,592 (GRCm39) |
Y222* |
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,472,074 (GRCm39) |
E3564D |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,250 (GRCm39) |
I906F |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,123,132 (GRCm39) |
H236R |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,376,814 (GRCm39) |
|
probably benign |
Het |
| Gm9892 |
A |
T |
8: 52,649,328 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
A |
G |
7: 55,756,283 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
G |
1: 192,376,221 (GRCm39) |
V304A |
probably damaging |
Het |
| Il16 |
C |
T |
7: 83,327,194 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
G |
A |
1: 66,840,848 (GRCm39) |
Q151* |
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,571,198 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,412,032 (GRCm39) |
N18S |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,547,589 (GRCm39) |
G391V |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,950,580 (GRCm39) |
T845S |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,911,667 (GRCm39) |
A230V |
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,077,517 (GRCm39) |
M884K |
probably benign |
Het |
| Nlrp3 |
T |
C |
11: 59,439,227 (GRCm39) |
L268P |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,710 (GRCm39) |
T39S |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,401 (GRCm39) |
I190K |
probably damaging |
Het |
| Or1j14 |
A |
C |
2: 36,418,156 (GRCm39) |
H244P |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,112,494 (GRCm39) |
M26K |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,505,218 (GRCm39) |
Q133* |
probably null |
Het |
| Postn |
A |
T |
3: 54,284,625 (GRCm39) |
N647I |
possibly damaging |
Het |
| Scimp |
T |
A |
11: 70,682,387 (GRCm39) |
I110F |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,165 (GRCm39) |
D127G |
probably damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,883,220 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,739,373 (GRCm39) |
E188G |
probably damaging |
Het |
| Shisal2a |
C |
T |
4: 108,225,225 (GRCm39) |
M112I |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,886,126 (GRCm39) |
Y169C |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,745 (GRCm39) |
M61L |
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,150 (GRCm39) |
Q32* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,069,053 (GRCm39) |
S4340T |
possibly damaging |
Het |
| Ucn |
A |
C |
5: 31,295,738 (GRCm39) |
W43G |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,213,241 (GRCm39) |
M836I |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,591 (GRCm39) |
D1277E |
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 |
|
|
IGL02622:Slco2a1
|
APN |
9 |
102,954,128 (GRCm39) |
nonsense |
probably null |
|
|
IGL02898:Slco2a1
|
APN |
9 |
102,956,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03101:Slco2a1
|
APN |
9 |
102,954,205 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
2015-04-16 |
Incidental Mutation