Incidental Mutation 'R7735:Slc22a2'
ID |
596219 |
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 |
045791-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7735 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12828917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 341
(T341I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
AlphaFold |
O70577 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046959
AA Change: T341I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041186 Gene: ENSMUSG00000040966 AA Change: T341I
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,655,629 (GRCm39) |
T617A |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,795 (GRCm39) |
I446N |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,107,451 (GRCm39) |
P575L |
probably benign |
Het |
Ap2m1 |
A |
T |
16: 20,358,269 (GRCm39) |
I96F |
probably benign |
Het |
Arhgap15 |
A |
G |
2: 44,006,642 (GRCm39) |
D253G |
probably damaging |
Het |
Arsa |
A |
T |
15: 89,359,152 (GRCm39) |
C171* |
probably null |
Het |
Arsb |
G |
T |
13: 93,908,491 (GRCm39) |
R69L |
probably benign |
Het |
Asb13 |
G |
A |
13: 3,684,180 (GRCm39) |
|
probably null |
Het |
Canx |
G |
T |
11: 50,191,866 (GRCm39) |
D348E |
probably damaging |
Het |
Cebpz |
C |
T |
17: 79,233,342 (GRCm39) |
|
probably null |
Het |
Ces2h |
A |
T |
8: 105,741,127 (GRCm39) |
I40L |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,660,039 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
C |
4: 128,350,723 (GRCm39) |
|
probably null |
Het |
Cxadr |
T |
A |
16: 78,125,949 (GRCm39) |
N106K |
possibly damaging |
Het |
Ddo |
T |
C |
10: 40,507,770 (GRCm39) |
C56R |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,046,412 (GRCm39) |
G3192D |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,962,465 (GRCm39) |
V49E |
probably benign |
Het |
Epha10 |
T |
C |
4: 124,807,472 (GRCm39) |
Y578H |
|
Het |
Fbxw16 |
T |
C |
9: 109,270,135 (GRCm39) |
D202G |
probably damaging |
Het |
Gzf1 |
T |
C |
2: 148,530,083 (GRCm39) |
V538A |
possibly damaging |
Het |
Igha |
T |
A |
12: 113,220,019 (GRCm39) |
|
probably benign |
Het |
Iqce |
G |
T |
5: 140,663,839 (GRCm39) |
Q457K |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,330,846 (GRCm39) |
K407E |
possibly damaging |
Het |
Lipt1 |
A |
G |
1: 37,914,703 (GRCm39) |
E253G |
probably damaging |
Het |
Mrnip |
G |
A |
11: 50,087,800 (GRCm39) |
W107* |
probably null |
Het |
Mroh4 |
T |
C |
15: 74,497,357 (GRCm39) |
T224A |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,218,661 (GRCm39) |
S1389R |
probably benign |
Het |
Npffr2 |
A |
G |
5: 89,731,173 (GRCm39) |
I368V |
probably benign |
Het |
Nrdc |
C |
T |
4: 108,895,182 (GRCm39) |
L469F |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,092,883 (GRCm39) |
Q1279L |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,819 (GRCm39) |
N200I |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,795,410 (GRCm39) |
Y64H |
probably damaging |
Het |
Pcdha4 |
T |
G |
18: 37,085,961 (GRCm39) |
I48S |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,469,101 (GRCm39) |
Y211C |
possibly damaging |
Het |
Prrt4 |
A |
T |
6: 29,170,035 (GRCm39) |
S806T |
possibly damaging |
Het |
Ptpn20 |
T |
A |
14: 33,352,902 (GRCm39) |
Y214N |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,417,661 (GRCm39) |
N938K |
probably damaging |
Het |
Scn2a |
G |
T |
2: 65,594,013 (GRCm39) |
V1621L |
probably benign |
Het |
Senp3 |
A |
G |
11: 69,569,087 (GRCm39) |
I358T |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,042,508 (GRCm39) |
S461T |
probably benign |
Het |
Slc38a7 |
A |
T |
8: 96,568,295 (GRCm39) |
D363E |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,598,090 (GRCm39) |
|
probably null |
Het |
Smo |
T |
A |
6: 29,759,851 (GRCm39) |
V650E |
probably damaging |
Het |
Spata17 |
G |
A |
1: 186,872,577 (GRCm39) |
T31I |
unknown |
Het |
Sstr2 |
T |
A |
11: 113,515,423 (GRCm39) |
I114N |
possibly damaging |
Het |
Styxl1 |
T |
C |
5: 135,788,023 (GRCm39) |
Y146C |
probably damaging |
Het |
Synpo2l |
T |
C |
14: 20,711,243 (GRCm39) |
Q688R |
possibly damaging |
Het |
Tmem245 |
C |
T |
4: 56,925,155 (GRCm39) |
R322H |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,890,398 (GRCm39) |
E247G |
unknown |
Het |
Ttc28 |
A |
T |
5: 111,414,544 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,718,416 (GRCm39) |
I7255N |
unknown |
Het |
Ttn |
C |
A |
2: 76,652,768 (GRCm39) |
|
probably null |
Het |
Unc13b |
C |
T |
4: 43,165,791 (GRCm39) |
R204C |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,619,787 (GRCm39) |
|
probably null |
Het |
Vps53 |
A |
T |
11: 75,937,962 (GRCm39) |
F753I |
probably damaging |
Het |
Ypel1 |
G |
T |
16: 16,918,124 (GRCm39) |
S97R |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,343,264 (GRCm39) |
T548A |
possibly damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,672 (GRCm39) |
T166M |
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 |
|
R7137:Slc22a2
|
UTSW |
17 |
12,803,228 (GRCm39) |
missense |
probably benign |
|
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 |
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'- GGCCCTCTTTTGTACAATGGAG -3'
(R):5'- GCGTCAACATCCTCTGGTAATGG -3'
Sequencing Primer
(F):5'- CTCTTTTGTACAATGGAGTGAAAAAC -3'
(R):5'- AACATCCTCTGGTAATGGTATTTTGG -3'
|
Posted On |
2019-11-26 |