Incidental Mutation 'R0885:Slco2a1'
| ID |
81173 |
| 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 |
039052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102959582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 559
(M559I)
|
| 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: M559I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: M559I
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 92.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
T |
A |
7: 29,980,094 (GRCm39) |
Y46* |
probably null |
Het |
| Adam18 |
T |
C |
8: 25,141,802 (GRCm39) |
K256E |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,595 (GRCm39) |
H568Q |
probably benign |
Het |
| Ambp |
A |
G |
4: 63,069,705 (GRCm39) |
L107P |
probably damaging |
Het |
| Art1 |
T |
C |
7: 101,756,541 (GRCm39) |
F244S |
probably damaging |
Het |
| Asxl2 |
C |
A |
12: 3,551,458 (GRCm39) |
L1067I |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,371,123 (GRCm39) |
T2242A |
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,298,772 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
G |
11: 106,934,617 (GRCm39) |
Y2819H |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,724,668 (GRCm39) |
R1152H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,866,432 (GRCm39) |
L868Q |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,116 (GRCm39) |
E178G |
unknown |
Het |
| Dclk1 |
G |
T |
3: 55,394,728 (GRCm39) |
R103S |
probably damaging |
Het |
| Des |
A |
G |
1: 75,337,374 (GRCm39) |
T105A |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,827,613 (GRCm39) |
T262A |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,359,576 (GRCm39) |
V759A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,246,539 (GRCm39) |
F1078I |
probably damaging |
Het |
| Il20 |
T |
C |
1: 130,838,518 (GRCm39) |
I60V |
probably benign |
Het |
| Kif3c |
A |
T |
12: 3,415,981 (GRCm39) |
M1L |
probably benign |
Het |
| Lhfpl5 |
A |
T |
17: 28,795,011 (GRCm39) |
I13F |
probably damaging |
Het |
| Lin28b |
C |
T |
10: 45,257,324 (GRCm39) |
G218E |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,312,697 (GRCm39) |
N2530K |
possibly damaging |
Het |
| Matn2 |
T |
A |
15: 34,316,751 (GRCm39) |
F31Y |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,276,670 (GRCm39) |
N307D |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,287,829 (GRCm39) |
T477S |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,292,844 (GRCm39) |
G236W |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,784,335 (GRCm39) |
D145G |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,149,503 (GRCm39) |
S150P |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,876,048 (GRCm39) |
S360* |
probably null |
Het |
| Or2ak6 |
C |
T |
11: 58,592,913 (GRCm39) |
P129S |
possibly damaging |
Het |
| Phip |
C |
A |
9: 82,757,448 (GRCm39) |
A1575S |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,167,763 (GRCm39) |
E54G |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,864 (GRCm39) |
M266T |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
T |
C |
8: 36,570,421 (GRCm39) |
F335L |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,058,399 (GRCm39) |
Y137H |
probably damaging |
Het |
| Psme3ip1 |
C |
A |
8: 95,302,407 (GRCm39) |
C208F |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,357,357 (GRCm39) |
D184G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,738,359 (GRCm39) |
Y241C |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,053,401 (GRCm39) |
V1193M |
probably benign |
Het |
| Raet1e |
T |
A |
10: 22,057,986 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,001,934 (GRCm39) |
D282G |
probably benign |
Het |
| Sis |
G |
A |
3: 72,819,282 (GRCm39) |
R1425* |
probably null |
Het |
| Spata4 |
C |
T |
8: 55,053,879 (GRCm39) |
A15V |
probably damaging |
Het |
| Spop |
T |
C |
11: 95,361,453 (GRCm39) |
S14P |
probably benign |
Het |
| Tcof1 |
A |
T |
18: 60,968,922 (GRCm39) |
D230E |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,803 (GRCm39) |
L277* |
probably null |
Het |
| Ubxn10 |
A |
T |
4: 138,447,881 (GRCm39) |
V265E |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,848 (GRCm39) |
Y179F |
probably benign |
Het |
| Wdr37 |
A |
C |
13: 8,885,288 (GRCm39) |
|
probably null |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGATGGGTATAACAGGCATTCAGC -3'
(R):5'- CTTCCCCGATCTCAAGCAATCAGG -3'
Sequencing Primer
(F):5'- CAGGCATTCAGCAGATAATGCG -3'
(R):5'- GGCAAACTGTCATCTGTCAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation