Incidental Mutation 'R1330:Slc22a2'
| ID |
156159 |
| 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 |
039395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 12805699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 150
(D150A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
| AlphaFold |
O70577 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046959
AA Change: D150A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: D150A
| 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 |
|
| Meta Mutation Damage Score |
0.4404 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.2%
- 10x: 92.6%
- 20x: 82.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,018 (GRCm39) |
T98A |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,085,814 (GRCm39) |
C38S |
probably benign |
Het |
| Adgrf3 |
T |
A |
5: 30,400,093 (GRCm39) |
T83S |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,227,613 (GRCm39) |
V453A |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,339 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,882,081 (GRCm39) |
K1177R |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ddx6 |
T |
C |
9: 44,539,070 (GRCm39) |
|
probably benign |
Het |
| Dolk |
A |
T |
2: 30,175,112 (GRCm39) |
V311E |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,377,618 (GRCm39) |
N408S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,637,116 (GRCm39) |
Y1049C |
possibly damaging |
Het |
| Eva1c |
A |
C |
16: 90,701,284 (GRCm39) |
E318D |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,468 (GRCm39) |
W1832R |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,263,502 (GRCm39) |
I689N |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,755 (GRCm39) |
S609P |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,167,354 (GRCm39) |
V586M |
probably benign |
Het |
| Ncstn |
C |
T |
1: 171,899,092 (GRCm39) |
M346I |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,015,251 (GRCm39) |
|
probably null |
Het |
| Pcdh12 |
A |
G |
18: 38,414,914 (GRCm39) |
V737A |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,684,542 (GRCm39) |
M600K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,724,666 (GRCm39) |
D805G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,524,547 (GRCm39) |
T579I |
probably benign |
Het |
| Rhod |
C |
A |
19: 4,476,182 (GRCm39) |
A190S |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Spink11 |
A |
G |
18: 44,329,195 (GRCm39) |
I17T |
unknown |
Het |
| Tas1r2 |
A |
G |
4: 139,396,640 (GRCm39) |
I660V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,637,051 (GRCm39) |
P720L |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,572 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,963 (GRCm39) |
L772P |
probably damaging |
Het |
| Wap |
T |
C |
11: 6,586,818 (GRCm39) |
T94A |
unknown |
Het |
| Wdr47 |
T |
C |
3: 108,537,069 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,724,684 (GRCm39) |
Y2229C |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,262 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TAAGAGCGGCTGGGTTATTGGCAC -3'
(R):5'- AAGCAACCACTTTTCAGGCGGG -3'
Sequencing Primer
(F):5'- GTTATTGGCACTCAGTTCAAGAG -3'
(R):5'- GAGCAAGTGGGCTGTCG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation