Incidental Mutation 'R5147:Slco2a1'
ID |
395161 |
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 |
042731-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5147 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 102927468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 120
(F120L)
|
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: F120L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035148 Gene: ENSMUSG00000032548 AA Change: F120L
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: F120L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140533 Gene: ENSMUSG00000032548 AA Change: F120L
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
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 |
|
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 |
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'- GTTCTCCCTAGGTGAGCTATGG -3'
(R):5'- TGAACTACTGAAGTCAAGGACAGTC -3'
Sequencing Primer
(F):5'- AGCTATGGTAGGTCTCCTCTG -3'
(R):5'- CTACTGAAGTCAAGGACAGTCTCTAG -3'
|
Posted On |
2016-06-21 |