Incidental Mutation 'R8395:Slco2a1'
ID |
647573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco2a1
|
Ensembl Gene |
ENSMUSG00000032548 |
Gene Name |
solute carrier organic anion transporter family, member 2a1 |
Synonyms |
Pgt, mPgt, Slc21a2, 2310021C19Rik |
MMRRC Submission |
067759-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8395 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102954239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 470
(H470R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035148]
[ENSMUST00000188664]
|
AlphaFold |
Q9EPT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035148
AA Change: H470R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000035148 Gene: ENSMUSG00000032548 AA Change: H470R
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
AA Change: M407V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000140533 Gene: ENSMUSG00000032548 AA Change: M407V
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
Gbp9 |
A |
T |
5: 105,228,069 (GRCm39) |
I571K |
probably damaging |
Het |
Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
Map9 |
A |
G |
3: 82,289,276 (GRCm39) |
I455V |
probably benign |
Het |
Mpped1 |
T |
C |
15: 83,684,257 (GRCm39) |
V93A |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,671,266 (GRCm39) |
L67P |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGCCTAAGACAAACGGG -3'
(R):5'- TGTGGGCATCTGGTCATGAC -3'
Sequencing Primer
(F):5'- GGTATGCAGGCACATCAGC -3'
(R):5'- ACCCCGGGGCAGAGAAG -3'
|
Posted On |
2020-09-02 |