Incidental Mutation 'R2912:Kcnq2'
| ID | 261290 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Kcnq2
|
|---|
| Ensembl Gene |
ENSMUSG00000016346 |
|---|
| Gene Name | potassium voltage-gated channel, subfamily Q, member 2 |
|---|
| Synonyms | KQT2, Nmf134 |
|---|
| MMRRC Submission |
040499-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | R2912 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 2 |
|---|
| Chromosomal Location | 181075579-181135300 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to G
at 181081774 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Valine to Alanine
at position 603
(V603A)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143263
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000103051]
[ENSMUST00000129695]
[ENSMUST00000149964]
[ENSMUST00000197015]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016491
AA Change: V639A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: V639A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
595 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
593 |
673 |
1.7e-22 |
PFAM |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049792
AA Change: V634A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: V634A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.2e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3.1e-55 |
PFAM |
|
Pfam:KCNQ_channel
|
587 |
668 |
6.8e-23 |
PFAM |
|
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081528
|
|---|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
4.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.7e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
564 |
2.3e-55 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103047
AA Change: V627A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: V627A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.1e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
424 |
583 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
581 |
661 |
1.7e-22 |
PFAM |
|
low complexity region
|
699 |
711 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103048
AA Change: V603A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: V603A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
6.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.3e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000103049
AA Change: V555A
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: V555A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
35 |
268 |
3.7e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
181 |
261 |
1.1e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
392 |
584 |
1e-92 |
PFAM |
|
Pfam:KCNQ2_u3
|
591 |
679 |
3.9e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
692 |
791 |
1.1e-48 |
PFAM |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000103050
AA Change: V600A
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: V600A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103051
AA Change: V613A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: V613A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.9e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
446 |
647 |
1.7e-82 |
PFAM |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
747 |
849 |
1.7e-51 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129073
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127061
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1e-28 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
3.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3e-55 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129695
AA Change: V487A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: V487A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
14 |
198 |
6.8e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
123 |
203 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
320 |
521 |
1.3e-82 |
PFAM |
|
low complexity region
|
559 |
571 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
621 |
723 |
1.3e-51 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145861
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149964
AA Change: V631A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: V631A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
4.4e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.3e-14 |
PFAM |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
Pfam:KCNQ_channel
|
466 |
659 |
6.2e-94 |
PFAM |
|
Pfam:KCNQ2_u3
|
666 |
754 |
4.5e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
767 |
866 |
1.2e-48 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197015
AA Change: V603A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: V603A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152099
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197599
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [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 |
|---|
| Aloxe3 |
A |
T |
11: 69,130,040 |
K197M |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,474,517 |
K182E |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,692,206 |
D4643G |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,880,378 |
D41G |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,987,053 |
T372A |
possibly damaging |
Het |
| Dbn1 |
A |
G |
13: 55,482,421 |
F45L |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 112,935,575 |
E251G |
probably damaging |
Het |
| Dnajc27 |
C |
T |
12: 4,096,280 |
S103L |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,715,675 |
N348K |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,365,260 |
S504P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,193,919 |
D1321G |
probably damaging |
Het |
| Fam71a |
T |
C |
1: 191,163,228 |
N406S |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,098,765 |
V131I |
probably benign |
Het |
| Hprt |
T |
C |
X: 53,020,139 |
Y174H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,000,803 |
S2716G |
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,684,053 |
V48A |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,475,911 |
I121F |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,275,914 |
L188P |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,281,308 |
T372A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 48,168,067 |
S307G |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 163,044,003 |
Y637C |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,749,604 |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 31,818,567 |
S474P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,026,974 |
D644A |
probably damaging |
Het |
| Olfr1052 |
A |
G |
2: 86,298,389 |
D191G |
probably damaging |
Het |
| Olfr1206 |
A |
T |
2: 88,865,114 |
N170Y |
probably benign |
Het |
| Olfr1328 |
A |
G |
4: 118,934,701 |
I47T |
probably benign |
Het |
| Olfr954 |
T |
C |
9: 39,462,216 |
Y259H |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 89,069,821 |
I660V |
probably benign |
Het |
| Pramef12 |
T |
C |
4: 144,392,734 |
E421G |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,516,229 |
P52S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,248,980 |
S206P |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,375,454 |
P217S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,718,130 |
D382G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 109,054,453 |
F144L |
possibly damaging |
Het |
| Slc9a3r2 |
C |
T |
17: 24,642,241 |
G71S |
probably damaging |
Het |
| Snx29 |
C |
T |
16: 11,447,453 |
R516W |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,392,483 |
S2763P |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,844,706 |
M294V |
probably benign |
Het |
| Zfp467 |
C |
A |
6: 48,439,076 |
R214L |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,512,327 |
A532S |
probably benign |
Het |
| Zscan4d |
G |
A |
7: 11,162,687 |
P252L |
probably benign |
Het |
|
|---|
| Other mutations in Kcnq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Kcnq2
|
APN |
2 |
181109789 |
unclassified |
probably benign |
|
|
IGL02064:Kcnq2
|
APN |
2 |
181109026 |
missense |
probably damaging |
1.00 |
|
IGL02231:Kcnq2
|
APN |
2 |
181081715 |
missense |
probably benign |
0.22 |
|
IGL02261:Kcnq2
|
APN |
2 |
181081690 |
missense |
probably damaging |
0.98 |
|
IGL02510:Kcnq2
|
APN |
2 |
181081361 |
missense |
probably benign |
|
|
IGL02583:Kcnq2
|
APN |
2 |
181081502 |
missense |
probably benign |
0.01 |
|
IGL02627:Kcnq2
|
APN |
2 |
181082327 |
unclassified |
probably benign |
|
|
IGL03303:Kcnq2
|
APN |
2 |
181082389 |
missense |
probably benign |
|
|
R0269:Kcnq2
|
UTSW |
2 |
181096974 |
missense |
probably benign |
0.00 |
|
R1535:Kcnq2
|
UTSW |
2 |
181134825 |
missense |
probably damaging |
1.00 |
|
R1688:Kcnq2
|
UTSW |
2 |
181087033 |
missense |
probably damaging |
1.00 |
|
R1776:Kcnq2
|
UTSW |
2 |
181100557 |
missense |
probably benign |
0.01 |
|
R1946:Kcnq2
|
UTSW |
2 |
181088451 |
missense |
probably benign |
0.09 |
|
R2105:Kcnq2
|
UTSW |
2 |
181081352 |
missense |
probably benign |
0.03 |
|
R2382:Kcnq2
|
UTSW |
2 |
181112107 |
missense |
probably damaging |
1.00 |
|
R3826:Kcnq2
|
UTSW |
2 |
181104900 |
missense |
possibly damaging |
0.56 |
|
R3898:Kcnq2
|
UTSW |
2 |
181109686 |
missense |
probably damaging |
0.97 |
|
R4282:Kcnq2
|
UTSW |
2 |
181081153 |
missense |
probably damaging |
1.00 |
|
R4938:Kcnq2
|
UTSW |
2 |
181086973 |
missense |
probably damaging |
0.96 |
|
R4962:Kcnq2
|
UTSW |
2 |
181112043 |
missense |
possibly damaging |
0.59 |
|
R5055:Kcnq2
|
UTSW |
2 |
181086761 |
intron |
probably benign |
|
|
R5107:Kcnq2
|
UTSW |
2 |
181108547 |
intron |
probably benign |
|
|
R5371:Kcnq2
|
UTSW |
2 |
181135020 |
missense |
probably damaging |
1.00 |
|
R5557:Kcnq2
|
UTSW |
2 |
181134897 |
missense |
probably benign |
0.07 |
|
R5839:Kcnq2
|
UTSW |
2 |
181109751 |
missense |
probably damaging |
1.00 |
|
R5998:Kcnq2
|
UTSW |
2 |
181087008 |
missense |
probably damaging |
1.00 |
|
R6084:Kcnq2
|
UTSW |
2 |
181087656 |
missense |
possibly damaging |
0.53 |
|
R6207:Kcnq2
|
UTSW |
2 |
181113233 |
missense |
possibly damaging |
0.49 |
|
R6744:Kcnq2
|
UTSW |
2 |
181085306 |
missense |
possibly damaging |
0.94 |
|
R7018:Kcnq2
|
UTSW |
2 |
181081724 |
nonsense |
probably null |
|
|
R7266:Kcnq2
|
UTSW |
2 |
181135092 |
start codon destroyed |
probably null |
0.92 |
|
R7291:Kcnq2
|
UTSW |
2 |
181088379 |
missense |
possibly damaging |
0.69 |
|
R7319:Kcnq2
|
UTSW |
2 |
181109102 |
missense |
probably damaging |
1.00 |
|
R7447:Kcnq2
|
UTSW |
2 |
181113094 |
missense |
probably damaging |
0.97 |
|
R7573:Kcnq2
|
UTSW |
2 |
181081589 |
missense |
probably benign |
0.04 |
|
R7897:Kcnq2
|
UTSW |
2 |
181081141 |
missense |
probably damaging |
1.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AATGATACAGCCATGCTTGTCTG -3'
(R):5'- CCACTCTCCTGGAAATGGATCC -3'
Sequencing Primer
(F):5'- CTTGTCTGCATGGTCACGGC -3'
(R):5'- ACTCTCCTGGAAATGGATCCTTAGG -3'
|
|---|
| Posted On | 2015-01-23 |
|---|
