Incidental Mutation 'R9580:Slc22a2'
| ID |
722510 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12803177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 4
(V4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
| AlphaFold |
O70577 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046959
AA Change: V4L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: V4L
| 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: 99.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
C |
11: 62,156,145 (GRCm39) |
M198T |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
| Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
| Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
| Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
| Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,620,139 (GRCm39) |
N733K |
unknown |
Het |
| Ptpn5 |
A |
G |
7: 46,732,622 (GRCm39) |
Y345H |
probably damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
| Slc12a5 |
T |
G |
2: 164,816,896 (GRCm39) |
F140V |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
| Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,915 (GRCm39) |
N134K |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
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 |
|
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 |
|
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'- TTCCGGGCAGCAAGATCTTC -3'
(R):5'- GGTGTAGTTCAGCTCCTCTG -3'
Sequencing Primer
(F):5'- AAGATCTTCCCCCATTGGAGAGG -3'
(R):5'- AGCTCCTCTGCTGGGCTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation