Incidental Mutation 'R3940:Kcna5'
| ID |
307409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna5
|
| Ensembl Gene |
ENSMUSG00000045534 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 5 |
| Synonyms |
Kv1.5 |
| MMRRC Submission |
040922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R3940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126509514-126512375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126510614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 505
(V505I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060972]
|
| AlphaFold |
Q61762 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060972
AA Change: V505I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: V505I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
BTB
|
111 |
211 |
5e-7 |
SMART |
|
Pfam:Ion_trans
|
240 |
516 |
6.6e-54 |
PFAM |
|
Pfam:Ion_trans_2
|
424 |
509 |
1.4e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.8222 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (35/37) |
| 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 ino 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, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal microglial proliferation and nitric oxide release after LPS treatment or facial nerve lesion. Mice homozygous for a knock-in allele exhibit impaired hypoxic pulmonary vasoconstriction, and resistance to drug-induced cardiac QT prolongation. [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 |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
| Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
| Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
| S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
probably benign |
Het |
|
| Other mutations in Kcna5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02379:Kcna5
|
APN |
6 |
126,511,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Kcna5
|
UTSW |
6 |
126,510,386 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0137:Kcna5
|
UTSW |
6 |
126,510,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Kcna5
|
UTSW |
6 |
126,511,957 (GRCm39) |
missense |
probably benign |
|
|
R1436:Kcna5
|
UTSW |
6 |
126,511,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1561:Kcna5
|
UTSW |
6 |
126,511,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Kcna5
|
UTSW |
6 |
126,510,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Kcna5
|
UTSW |
6 |
126,510,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Kcna5
|
UTSW |
6 |
126,510,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4372:Kcna5
|
UTSW |
6 |
126,510,320 (GRCm39) |
makesense |
probably null |
|
|
R4562:Kcna5
|
UTSW |
6 |
126,511,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5130:Kcna5
|
UTSW |
6 |
126,511,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5137:Kcna5
|
UTSW |
6 |
126,510,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Kcna5
|
UTSW |
6 |
126,511,859 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5890:Kcna5
|
UTSW |
6 |
126,511,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Kcna5
|
UTSW |
6 |
126,510,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Kcna5
|
UTSW |
6 |
126,510,806 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7322:Kcna5
|
UTSW |
6 |
126,510,754 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7353:Kcna5
|
UTSW |
6 |
126,511,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7695:Kcna5
|
UTSW |
6 |
126,511,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Kcna5
|
UTSW |
6 |
126,511,768 (GRCm39) |
nonsense |
probably null |
|
|
R7778:Kcna5
|
UTSW |
6 |
126,511,768 (GRCm39) |
nonsense |
probably null |
|
|
R7894:Kcna5
|
UTSW |
6 |
126,512,011 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7905:Kcna5
|
UTSW |
6 |
126,511,831 (GRCm39) |
missense |
probably benign |
|
|
R7961:Kcna5
|
UTSW |
6 |
126,510,517 (GRCm39) |
missense |
probably benign |
|
|
R8009:Kcna5
|
UTSW |
6 |
126,510,517 (GRCm39) |
missense |
probably benign |
|
|
R8388:Kcna5
|
UTSW |
6 |
126,511,588 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9725:Kcna5
|
UTSW |
6 |
126,511,844 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Kcna5
|
UTSW |
6 |
126,510,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcna5
|
UTSW |
6 |
126,510,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGGCCTTTAGGTGACAC -3'
(R):5'- AATCAGGGGTCGCACTTCTC -3'
Sequencing Primer
(F):5'- ATACTGTCAGTACTCTCCAGGGG -3'
(R):5'- CCAGTATCCCGGATGCATTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation