Incidental Mutation 'R4105:Slco2a1'
ID |
321355 |
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 |
040985-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4105 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102950449 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 347
(F347S)
|
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: F347S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035148 Gene: ENSMUSG00000032548 AA Change: F347S
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: F347S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140533 Gene: ENSMUSG00000032548 AA Change: F347S
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
31 |
381 |
4.8e-135 |
PFAM |
Pfam:MFS_1
|
39 |
413 |
1.8e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.9595 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (46/48) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
T |
C |
3: 89,647,401 (GRCm39) |
S127P |
probably benign |
Het |
Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
Asb18 |
T |
C |
1: 89,896,243 (GRCm39) |
S266G |
possibly damaging |
Het |
Atg9a |
A |
G |
1: 75,162,603 (GRCm39) |
Y471H |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,916,058 (GRCm39) |
Q226R |
probably damaging |
Het |
Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
Cel |
T |
C |
2: 28,448,039 (GRCm39) |
D329G |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,677,824 (GRCm39) |
|
probably null |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
Dchs1 |
A |
C |
7: 105,414,347 (GRCm39) |
S823A |
probably damaging |
Het |
Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
Eif2b3 |
G |
A |
4: 116,938,831 (GRCm39) |
G427R |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
Fat1 |
A |
G |
8: 45,489,888 (GRCm39) |
Y3600C |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,059,054 (GRCm39) |
F228L |
probably benign |
Het |
Fgf7 |
T |
A |
2: 125,877,599 (GRCm39) |
|
probably benign |
Het |
Gm2832 |
A |
T |
14: 41,002,856 (GRCm39) |
M122L |
unknown |
Het |
Lrrcc1 |
T |
C |
3: 14,615,388 (GRCm39) |
V73A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
Or2o1 |
A |
G |
11: 49,051,375 (GRCm39) |
H178R |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,229,679 (GRCm39) |
|
probably benign |
Het |
Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
Polr1a |
A |
G |
6: 71,953,175 (GRCm39) |
N1581S |
probably damaging |
Het |
Polrmt |
G |
T |
10: 79,577,567 (GRCm39) |
T344K |
probably benign |
Het |
Postn |
T |
C |
3: 54,283,462 (GRCm39) |
F514L |
probably damaging |
Het |
Ptprq |
G |
T |
10: 107,408,828 (GRCm39) |
T1895N |
probably damaging |
Het |
Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
Smim13 |
T |
A |
13: 41,426,127 (GRCm39) |
D54E |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,069,936 (GRCm39) |
I1027N |
probably damaging |
Het |
Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,181,265 (GRCm39) |
I429T |
probably damaging |
Het |
Trip11 |
G |
A |
12: 101,860,581 (GRCm39) |
R254* |
probably null |
Het |
Vmn2r65 |
A |
G |
7: 84,595,691 (GRCm39) |
V331A |
probably benign |
Het |
Ypel3 |
T |
C |
7: 126,377,265 (GRCm39) |
S82P |
probably damaging |
Het |
Zfp128 |
T |
C |
7: 12,618,667 (GRCm39) |
L55P |
probably damaging |
Het |
Zscan4e |
T |
C |
7: 11,041,437 (GRCm39) |
D173G |
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 |
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 |
102,945,075 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTGTCCTTGTGGATGAG -3'
(R):5'- TAAAATTCTTTCTCTCCGGCAAGC -3'
Sequencing Primer
(F):5'- CCTTGTGGATGAGTCAGGGTGAC -3'
(R):5'- GGCAAGCCCTCCTGTCTC -3'
|
Posted On |
2015-06-12 |