Incidental Mutation 'R4881:Slco2a1'
| ID |
375285 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
102885686-102973201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102963031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 629
(K629E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035148]
[ENSMUST00000188664]
|
| AlphaFold |
Q9EPT5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035148
AA Change: K629E
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035148
Gene: ENSMUSG00000032548
AA Change: K629E
| 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
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,877,472 (GRCm39) |
L1040P |
possibly damaging |
Het |
| Acot11 |
C |
A |
4: 106,612,502 (GRCm39) |
|
probably null |
Het |
| Aldoart2 |
C |
A |
12: 55,612,899 (GRCm39) |
Q275K |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,501,288 (GRCm39) |
T42A |
probably damaging |
Het |
| Bora |
C |
T |
14: 99,299,003 (GRCm39) |
L187F |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,059 (GRCm39) |
S54P |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,721,140 (GRCm39) |
L2661Q |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,946,772 (GRCm39) |
T1313A |
probably damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,225 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,746,126 (GRCm39) |
D4G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,090,348 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,240,478 (GRCm39) |
C1532R |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,412,816 (GRCm39) |
H591Q |
probably benign |
Het |
| Exosc4 |
T |
C |
15: 76,213,770 (GRCm39) |
L198P |
probably damaging |
Het |
| F2r |
A |
T |
13: 95,754,837 (GRCm39) |
C16S |
possibly damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,981,125 (GRCm39) |
I234N |
possibly damaging |
Het |
| Ift27 |
A |
T |
15: 78,049,448 (GRCm39) |
V84D |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,263,256 (GRCm39) |
A389V |
probably benign |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Klrc2 |
T |
A |
6: 129,637,471 (GRCm39) |
T17S |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,705,428 (GRCm39) |
S118T |
probably damaging |
Het |
| Mfsd6l |
C |
T |
11: 68,448,748 (GRCm39) |
A533V |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,402,549 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,191,434 (GRCm39) |
M1103V |
probably benign |
Het |
| Niban2 |
C |
A |
2: 32,812,590 (GRCm39) |
Y446* |
probably null |
Het |
| Or2y1e |
T |
A |
11: 49,219,124 (GRCm39) |
D295E |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,612 (GRCm39) |
L183P |
probably damaging |
Het |
| Or6z3 |
A |
T |
7: 6,463,753 (GRCm39) |
M82L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,764 (GRCm39) |
D88E |
possibly damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,328,728 (GRCm39) |
T149I |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Rcor1 |
A |
G |
12: 111,063,986 (GRCm39) |
D95G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,119,809 (GRCm39) |
L1748P |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,964,696 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,472,397 (GRCm39) |
K360E |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,865,629 (GRCm39) |
M1753K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,133,192 (GRCm39) |
T736S |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,998,503 (GRCm39) |
P428L |
possibly damaging |
Het |
| Tmprss11a |
G |
T |
5: 86,570,432 (GRCm39) |
Q176K |
probably damaging |
Het |
| Trappc4 |
A |
G |
9: 44,315,322 (GRCm39) |
S219P |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,859 (GRCm39) |
P183T |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,598 (GRCm39) |
V432I |
probably benign |
Het |
| Vtcn1 |
G |
A |
3: 100,799,909 (GRCm39) |
G257R |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,288 (GRCm39) |
M217K |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,236,647 (GRCm39) |
S374P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,577,828 (GRCm39) |
H1095R |
probably benign |
Het |
| Zfp661 |
A |
T |
2: 127,420,564 (GRCm39) |
H78Q |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,450,849 (GRCm39) |
T317A |
unknown |
Het |
| Zfyve9 |
T |
A |
4: 108,584,688 (GRCm39) |
|
probably null |
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 |
|
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'- ACAGCTCGTCACCTGAGTAAC -3'
(R):5'- ACCATGCGGGAGACTTTAGG -3'
Sequencing Primer
(F):5'- GTAACGATCTTCACAGCTTCTAGTG -3'
(R):5'- CAAGGGGTGAGTGAACTAACTCTCTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation