Incidental Mutation 'IGL02150:Slco2a1'
| ID |
281944 |
| 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 # |
IGL02150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102962017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q9EPT5 |
| 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
| 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 benign
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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
| Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
| Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
| Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
| Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
| Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
| Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
| Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
| Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
| Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
| Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
| Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
| Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,148,526 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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