Incidental Mutation 'R7137:Slc22a2'
ID |
553152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a2
|
Ensembl Gene |
ENSMUSG00000040966 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 2 |
Synonyms |
Oct2, Orct2 |
MMRRC Submission |
045248-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7137 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12803228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 21
(T21A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
AlphaFold |
O70577 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046959
AA Change: T21A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041186 Gene: ENSMUSG00000040966 AA Change: T21A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
80 |
528 |
7.6e-37 |
PFAM |
Pfam:MFS_1
|
134 |
398 |
3.5e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and display no obvious phenotypic abnormalities. No significant defects in the renal secretion of a model organic cation are observed. [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 |
A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
Acvr1c |
A |
G |
2: 58,173,399 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
Aspg |
T |
C |
12: 112,078,632 (GRCm39) |
V30A |
possibly damaging |
Het |
Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
Cyp2d12 |
C |
T |
15: 82,442,022 (GRCm39) |
A280V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,989 (GRCm39) |
R1156G |
possibly damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
Usp17lb |
C |
A |
7: 104,490,798 (GRCm39) |
W43L |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
probably damaging |
Het |
|
Other mutations in Slc22a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00592:Slc22a2
|
APN |
17 |
12,827,305 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00658:Slc22a2
|
APN |
17 |
12,834,202 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01073:Slc22a2
|
APN |
17 |
12,803,236 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01573:Slc22a2
|
APN |
17 |
12,824,848 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02000:Slc22a2
|
APN |
17 |
12,803,270 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02943:Slc22a2
|
APN |
17 |
12,828,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03301:Slc22a2
|
APN |
17 |
12,824,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R0492:Slc22a2
|
UTSW |
17 |
12,834,159 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Slc22a2
|
UTSW |
17 |
12,831,318 (GRCm39) |
missense |
probably benign |
0.01 |
R1330:Slc22a2
|
UTSW |
17 |
12,805,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1432:Slc22a2
|
UTSW |
17 |
12,803,195 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1559:Slc22a2
|
UTSW |
17 |
12,803,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:Slc22a2
|
UTSW |
17 |
12,805,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R1884:Slc22a2
|
UTSW |
17 |
12,833,713 (GRCm39) |
splice site |
probably benign |
|
R2042:Slc22a2
|
UTSW |
17 |
12,818,012 (GRCm39) |
missense |
probably benign |
0.01 |
R2197:Slc22a2
|
UTSW |
17 |
12,817,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R2255:Slc22a2
|
UTSW |
17 |
12,818,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Slc22a2
|
UTSW |
17 |
12,805,692 (GRCm39) |
missense |
probably benign |
|
R4003:Slc22a2
|
UTSW |
17 |
12,831,337 (GRCm39) |
missense |
probably benign |
0.01 |
R4021:Slc22a2
|
UTSW |
17 |
12,803,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Slc22a2
|
UTSW |
17 |
12,831,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Slc22a2
|
UTSW |
17 |
12,833,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R4419:Slc22a2
|
UTSW |
17 |
12,831,473 (GRCm39) |
nonsense |
probably null |
|
R4564:Slc22a2
|
UTSW |
17 |
12,828,943 (GRCm39) |
missense |
probably benign |
0.08 |
R4866:Slc22a2
|
UTSW |
17 |
12,803,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R4877:Slc22a2
|
UTSW |
17 |
12,833,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5224:Slc22a2
|
UTSW |
17 |
12,805,719 (GRCm39) |
missense |
probably damaging |
0.97 |
R5668:Slc22a2
|
UTSW |
17 |
12,827,296 (GRCm39) |
missense |
probably benign |
|
R6326:Slc22a2
|
UTSW |
17 |
12,831,297 (GRCm39) |
nonsense |
probably null |
|
R7211:Slc22a2
|
UTSW |
17 |
12,805,770 (GRCm39) |
critical splice donor site |
probably null |
|
R7378:Slc22a2
|
UTSW |
17 |
12,831,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7521:Slc22a2
|
UTSW |
17 |
12,805,710 (GRCm39) |
missense |
probably benign |
0.14 |
R7524:Slc22a2
|
UTSW |
17 |
12,824,944 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7735:Slc22a2
|
UTSW |
17 |
12,828,917 (GRCm39) |
missense |
probably damaging |
0.99 |
R8136:Slc22a2
|
UTSW |
17 |
12,824,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8671:Slc22a2
|
UTSW |
17 |
12,824,863 (GRCm39) |
nonsense |
probably null |
|
R8799:Slc22a2
|
UTSW |
17 |
12,831,425 (GRCm39) |
missense |
probably benign |
0.14 |
R8874:Slc22a2
|
UTSW |
17 |
12,828,866 (GRCm39) |
missense |
probably benign |
0.37 |
R9046:Slc22a2
|
UTSW |
17 |
12,834,234 (GRCm39) |
missense |
probably null |
0.15 |
R9220:Slc22a2
|
UTSW |
17 |
12,838,757 (GRCm39) |
missense |
probably benign |
0.03 |
R9367:Slc22a2
|
UTSW |
17 |
12,824,837 (GRCm39) |
missense |
probably benign |
0.19 |
R9410:Slc22a2
|
UTSW |
17 |
12,805,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R9511:Slc22a2
|
UTSW |
17 |
12,828,916 (GRCm39) |
missense |
probably damaging |
0.98 |
R9580:Slc22a2
|
UTSW |
17 |
12,803,177 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Slc22a2
|
UTSW |
17 |
12,833,663 (GRCm39) |
missense |
probably benign |
0.36 |
Z1176:Slc22a2
|
UTSW |
17 |
12,803,512 (GRCm39) |
missense |
possibly damaging |
0.79 |
Z1177:Slc22a2
|
UTSW |
17 |
12,824,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGGTCCCTCTCTAAATAAG -3'
(R):5'- CATACCTCATGCACTGGCTG -3'
Sequencing Primer
(F):5'- GGTCCCTCTCTAAATAAGCTAATGC -3'
(R):5'- CTCATGCACTGGCTGAGGAAG -3'
|
Posted On |
2019-05-15 |