Incidental Mutation 'R0393:Kcna3'
| ID |
31782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna3
|
| Ensembl Gene |
ENSMUSG00000047959 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 3 |
| Synonyms |
Kv1.3, Mk-3, Kca1-3 |
| MMRRC Submission |
038599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R0393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106943485-106945386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106944315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 193
(S193P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052718]
|
| AlphaFold |
P16390 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052718
AA Change: S193P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
49 |
N/A |
INTRINSIC |
|
BTB
|
57 |
157 |
6.9e-10 |
SMART |
|
Pfam:Ion_trans
|
186 |
444 |
4.2e-54 |
PFAM |
|
Pfam:Ion_trans_2
|
352 |
437 |
2.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070085
|
| SMART Domains |
Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182414
|
| Meta Mutation Damage Score |
0.7800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,591,604 (GRCm39) |
|
probably benign |
Het |
| Akr1b7 |
T |
G |
6: 34,392,335 (GRCm39) |
Y49* |
probably null |
Het |
| Ankrd10 |
G |
T |
8: 11,685,482 (GRCm39) |
R46S |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,085,681 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,965,221 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
T |
13: 49,533,346 (GRCm39) |
T644M |
probably damaging |
Het |
| Ccr9 |
A |
T |
9: 123,609,035 (GRCm39) |
H239L |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,408 (GRCm39) |
N485Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,919,400 (GRCm39) |
S131C |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,076 (GRCm39) |
S116R |
probably benign |
Het |
| Crym |
T |
C |
7: 119,788,972 (GRCm39) |
K285R |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,293 (GRCm39) |
I359F |
possibly damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,359 (GRCm39) |
|
probably benign |
Het |
| Dcpp3 |
A |
T |
17: 24,136,925 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,364 (GRCm39) |
I1340K |
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,111,277 (GRCm39) |
C144R |
probably damaging |
Het |
| Gm1553 |
T |
C |
10: 82,328,010 (GRCm39) |
R66G |
unknown |
Het |
| Il10rb |
G |
A |
16: 91,208,898 (GRCm39) |
V103I |
probably benign |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,614 (GRCm39) |
W182R |
probably benign |
Het |
| Kif14 |
C |
T |
1: 136,410,156 (GRCm39) |
H628Y |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,941,079 (GRCm39) |
L77P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,940 (GRCm39) |
A211T |
possibly damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,137,892 (GRCm39) |
T743A |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,821,664 (GRCm39) |
T1346M |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,384 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
C |
10: 75,695,638 (GRCm39) |
D55G |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,361 (GRCm39) |
C608* |
probably null |
Het |
| Mlip |
A |
T |
9: 77,146,859 (GRCm39) |
C85S |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,826,809 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mybl2 |
T |
A |
2: 162,903,528 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
C |
T |
11: 67,196,843 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
A |
G |
19: 60,745,368 (GRCm39) |
Y222C |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,044,037 (GRCm39) |
Y267F |
probably benign |
Het |
| Or2n1e |
G |
T |
17: 38,585,774 (GRCm39) |
M37I |
probably benign |
Het |
| Or5d16 |
T |
C |
2: 87,773,909 (GRCm39) |
D21G |
possibly damaging |
Het |
| Papolb |
A |
G |
5: 142,515,211 (GRCm39) |
V144A |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,003,298 (GRCm39) |
L509Q |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,802,122 (GRCm39) |
M290I |
probably benign |
Het |
| Ralb |
G |
C |
1: 119,405,856 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
T |
C |
10: 121,931,841 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,672,519 (GRCm39) |
D18E |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,400,568 (GRCm39) |
H2576P |
possibly damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,349 (GRCm39) |
D241G |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,175,040 (GRCm39) |
V165E |
probably benign |
Het |
| Thbs1 |
T |
A |
2: 117,943,472 (GRCm39) |
V30E |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,077,265 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,756,008 (GRCm39) |
D84N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,737,427 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,171 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,242 (GRCm39) |
Y181H |
possibly damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,395 (GRCm39) |
T679A |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,712 (GRCm39) |
Y110F |
probably damaging |
Het |
| Zbtb40 |
A |
C |
4: 136,745,842 (GRCm39) |
S64A |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,131,252 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kcna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Kcna3
|
APN |
3 |
106,944,472 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00562:Kcna3
|
APN |
3 |
106,944,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Kcna3
|
APN |
3 |
106,945,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01318:Kcna3
|
APN |
3 |
106,945,294 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02253:Kcna3
|
APN |
3 |
106,944,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03379:Kcna3
|
APN |
3 |
106,944,521 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02802:Kcna3
|
UTSW |
3 |
106,944,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03014:Kcna3
|
UTSW |
3 |
106,945,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1591:Kcna3
|
UTSW |
3 |
106,944,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Kcna3
|
UTSW |
3 |
106,945,251 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1950:Kcna3
|
UTSW |
3 |
106,944,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Kcna3
|
UTSW |
3 |
106,944,012 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4912:Kcna3
|
UTSW |
3 |
106,945,207 (GRCm39) |
missense |
probably benign |
|
|
R6261:Kcna3
|
UTSW |
3 |
106,945,266 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6271:Kcna3
|
UTSW |
3 |
106,944,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Kcna3
|
UTSW |
3 |
106,943,740 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6423:Kcna3
|
UTSW |
3 |
106,944,158 (GRCm39) |
nonsense |
probably null |
|
|
R6850:Kcna3
|
UTSW |
3 |
106,944,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Kcna3
|
UTSW |
3 |
106,943,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7193:Kcna3
|
UTSW |
3 |
106,943,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7524:Kcna3
|
UTSW |
3 |
106,944,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Kcna3
|
UTSW |
3 |
106,943,908 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9698:Kcna3
|
UTSW |
3 |
106,944,405 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Kcna3
|
UTSW |
3 |
106,944,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcna3
|
UTSW |
3 |
106,944,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTCCGAGGAGATCCGCTTTTAC -3'
(R):5'- GCTTTACTGGGGCAAGCAAAGAAC -3'
Sequencing Primer
(F):5'- TTTTACCAGCTGGGTGAGGA -3'
(R):5'- AGATGATGCACAAGGTCTCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation