Incidental Mutation 'R5224:Slc22a2'
| ID |
402523 |
| 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 |
042797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
12803076-12847376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12805719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 157
(N157D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046959]
|
| AlphaFold |
O70577 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046959
AA Change: N157D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041186
Gene: ENSMUSG00000040966
AA Change: N157D
| 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 |
0.2156 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (58/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
CGTGACCTTTCTGGT |
CGT |
10: 85,481,386 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
| Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
| Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
| Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
| Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
| Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,163 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
| Ganab |
T |
A |
19: 8,887,955 (GRCm39) |
D396E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
| Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
| Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
| H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
| Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
| Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
| Nlrc5 |
G |
T |
8: 95,220,944 (GRCm39) |
A1128S |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
| Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
| Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
| Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
| Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
| Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
| Washc2 |
T |
G |
6: 116,185,965 (GRCm39) |
*58G |
probably null |
Het |
| Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
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 |
|
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'- CAGCATCACCTGAACCTCTG -3'
(R):5'- AAGCAACCACTTTTCAGGCGG -3'
Sequencing Primer
(F):5'- CCAGCTAGGAGTATTCAAAGTGCTC -3'
(R):5'- CACTTTTCAGGCGGGTGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation