Incidental Mutation 'R4419:Slc22a2'
ID |
327022 |
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 |
041140-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4419 (G1)
|
Quality Score |
220 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 12831473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 421
(S421*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
AlphaFold |
O70577 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046959
AA Change: S421*
|
SMART Domains |
Protein: ENSMUSP00000041186 Gene: ENSMUSG00000040966 AA Change: S421*
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
probably benign |
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 |
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'- TCATCATGCACATGGGCCTC -3'
(R):5'- CTCCACATGGCTAAAAGGATTTG -3'
Sequencing Primer
(F):5'- TCGCAGGGGACAACATCTACTTG -3'
(R):5'- GGCTAAAAGGATTTGTTTCACTGCC -3'
|
Posted On |
2015-07-07 |