Incidental Mutation 'R5054:Kcna2'
| ID |
390691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcna2
|
| Ensembl Gene |
ENSMUSG00000040724 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, member 2 |
| Synonyms |
Akr6a4, Kca1-2, Kv1.2, Mk-2 |
| MMRRC Submission |
042644-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107008462-107022321 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107011656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 79
(D79V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038695]
[ENSMUST00000196403]
[ENSMUST00000197470]
|
| AlphaFold |
P63141 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038695
AA Change: D79V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: D79V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
133 |
1.2e-9 |
SMART |
|
Pfam:Ion_trans
|
162 |
421 |
6.2e-53 |
PFAM |
|
Pfam:Ion_trans_2
|
329 |
414 |
4.9e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196403
AA Change: D79V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: D79V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
133 |
1.2e-9 |
SMART |
|
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
224 |
409 |
1.3e-36 |
PFAM |
|
Pfam:Ion_trans_2
|
329 |
414 |
7.9e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197470
AA Change: D79V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: D79V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
133 |
1.2e-9 |
SMART |
|
Pfam:Ion_trans
|
162 |
421 |
6.2e-53 |
PFAM |
|
Pfam:Ion_trans_2
|
329 |
414 |
4.9e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.9618 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
94% (67/71) |
| 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. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, increased susceptibility to spontaneous and chemically-induced seizures and altered neuron electrophysiology. Mice homozygous for an ENU-induced allele exhibit abnormal gait, impaired coordination, and premature lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,315 (GRCm39) |
Y257H |
probably damaging |
Het |
| Adam28 |
C |
T |
14: 68,855,164 (GRCm39) |
C659Y |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,991,732 (GRCm39) |
E627K |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,502 (GRCm39) |
S196R |
probably benign |
Het |
| Bcam |
T |
A |
7: 19,490,785 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,962,320 (GRCm39) |
H3978R |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,804,471 (GRCm39) |
I190V |
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,728,970 (GRCm39) |
V153A |
probably damaging |
Het |
| Cyp2a5 |
C |
G |
7: 26,540,529 (GRCm39) |
R68G |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,815,105 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,085,007 (GRCm39) |
E2794G |
possibly damaging |
Het |
| Dytn |
C |
A |
1: 63,700,318 (GRCm39) |
V271L |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,071 (GRCm39) |
I61V |
probably benign |
Het |
| Eif2s2 |
A |
C |
2: 154,734,590 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
A |
G |
3: 108,788,663 (GRCm39) |
S193P |
probably damaging |
Het |
| Fzr1 |
G |
A |
10: 81,207,253 (GRCm39) |
|
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,938 (GRCm39) |
I69T |
probably damaging |
Het |
| Gmppa |
C |
A |
1: 75,416,015 (GRCm39) |
Y137* |
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,071,809 (GRCm39) |
I151V |
probably benign |
Het |
| H1f0 |
G |
A |
15: 78,912,973 (GRCm39) |
A18T |
probably damaging |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,063 (GRCm39) |
V114I |
probably benign |
Het |
| Impa2 |
C |
A |
18: 67,439,797 (GRCm39) |
P98Q |
probably damaging |
Het |
| Kazn |
T |
C |
4: 141,835,957 (GRCm39) |
N573D |
unknown |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,956,122 (GRCm39) |
Y561H |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,352,247 (GRCm39) |
Q165L |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,570,869 (GRCm39) |
R318S |
probably damaging |
Het |
| Mgat4d |
G |
A |
8: 84,094,837 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,641,312 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
T |
2: 69,006,057 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,443 (GRCm39) |
E3033G |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,749,642 (GRCm39) |
D839Y |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,795,157 (GRCm39) |
V693A |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,021,337 (GRCm39) |
L535Q |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ptar1 |
G |
T |
19: 23,671,729 (GRCm39) |
R44L |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,288,580 (GRCm39) |
H201R |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,381,265 (GRCm39) |
|
probably null |
Het |
| Rpl22l1 |
T |
G |
3: 28,860,985 (GRCm39) |
S67A |
possibly damaging |
Het |
| Rps10 |
A |
G |
17: 27,849,454 (GRCm39) |
S143P |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,315,967 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs2 |
C |
A |
7: 126,872,564 (GRCm39) |
M176I |
probably benign |
Het |
| Serpina16 |
C |
T |
12: 103,641,189 (GRCm39) |
V179I |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,166,784 (GRCm39) |
T158S |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,979 (GRCm39) |
R701G |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,650,436 (GRCm39) |
E558G |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,136,672 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,636,346 (GRCm39) |
I241F |
possibly damaging |
Het |
| Tgfa |
G |
C |
6: 86,247,064 (GRCm39) |
|
probably null |
Het |
| Tlr12 |
T |
A |
4: 128,511,063 (GRCm39) |
K396* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,235,026 (GRCm39) |
I442V |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,147,607 (GRCm39) |
V180A |
probably damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,901 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,708 (GRCm39) |
V482L |
possibly damaging |
Het |
| Zfp184 |
G |
T |
13: 22,143,452 (GRCm39) |
R386L |
possibly damaging |
Het |
| Zfp444 |
T |
A |
7: 6,192,792 (GRCm39) |
V270E |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,438 (GRCm39) |
Y102F |
probably damaging |
Het |
|
| Other mutations in Kcna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Kcna2
|
APN |
3 |
107,011,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00711:Kcna2
|
APN |
3 |
107,012,069 (GRCm39) |
missense |
probably benign |
|
|
IGL02380:Kcna2
|
APN |
3 |
107,012,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
grim
|
UTSW |
3 |
107,012,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Kcna2
|
UTSW |
3 |
107,012,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0117:Kcna2
|
UTSW |
3 |
107,012,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Kcna2
|
UTSW |
3 |
107,012,476 (GRCm39) |
missense |
probably benign |
|
|
R0463:Kcna2
|
UTSW |
3 |
107,012,476 (GRCm39) |
missense |
probably benign |
|
|
R0472:Kcna2
|
UTSW |
3 |
107,012,832 (GRCm39) |
missense |
probably benign |
|
|
R0662:Kcna2
|
UTSW |
3 |
107,012,717 (GRCm39) |
missense |
probably benign |
|
|
R0746:Kcna2
|
UTSW |
3 |
107,012,484 (GRCm39) |
missense |
probably benign |
|
|
R1838:Kcna2
|
UTSW |
3 |
107,011,828 (GRCm39) |
missense |
probably benign |
|
|
R1847:Kcna2
|
UTSW |
3 |
107,012,429 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1912:Kcna2
|
UTSW |
3 |
107,012,717 (GRCm39) |
missense |
probably benign |
|
|
R1966:Kcna2
|
UTSW |
3 |
107,011,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Kcna2
|
UTSW |
3 |
107,012,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Kcna2
|
UTSW |
3 |
107,011,469 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3796:Kcna2
|
UTSW |
3 |
107,012,906 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3830:Kcna2
|
UTSW |
3 |
107,012,112 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4273:Kcna2
|
UTSW |
3 |
107,012,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4570:Kcna2
|
UTSW |
3 |
107,012,111 (GRCm39) |
missense |
probably benign |
|
|
R4662:Kcna2
|
UTSW |
3 |
107,012,733 (GRCm39) |
missense |
probably benign |
|
|
R4756:Kcna2
|
UTSW |
3 |
107,012,733 (GRCm39) |
missense |
probably benign |
|
|
R5069:Kcna2
|
UTSW |
3 |
107,011,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Kcna2
|
UTSW |
3 |
107,011,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5126:Kcna2
|
UTSW |
3 |
107,011,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5146:Kcna2
|
UTSW |
3 |
107,012,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5205:Kcna2
|
UTSW |
3 |
107,004,462 (GRCm39) |
unclassified |
probably benign |
|
|
R5472:Kcna2
|
UTSW |
3 |
107,012,625 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6687:Kcna2
|
UTSW |
3 |
107,012,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6689:Kcna2
|
UTSW |
3 |
107,012,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Kcna2
|
UTSW |
3 |
107,012,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7304:Kcna2
|
UTSW |
3 |
107,012,066 (GRCm39) |
missense |
probably benign |
|
|
R7538:Kcna2
|
UTSW |
3 |
107,011,884 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7585:Kcna2
|
UTSW |
3 |
107,012,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7968:Kcna2
|
UTSW |
3 |
107,012,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8241:Kcna2
|
UTSW |
3 |
107,012,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Kcna2
|
UTSW |
3 |
107,012,306 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9441:Kcna2
|
UTSW |
3 |
107,012,268 (GRCm39) |
missense |
probably benign |
|
|
R9449:Kcna2
|
UTSW |
3 |
107,012,887 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTATGACAGTGGCTACCGGAG -3'
(R):5'- AGGACGCTCTTCTTCCTTGATG -3'
Sequencing Primer
(F):5'- TACCGGAGACCCAGTGGAC -3'
(R):5'- ATGTAGCCTTCATCCTCCCGAAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation