Incidental Mutation 'R4282:Kcnq2'
ID |
322931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnq2
|
Ensembl Gene |
ENSMUSG00000016346 |
Gene Name |
potassium voltage-gated channel, subfamily Q, member 2 |
Synonyms |
Nmf134, KQT2 |
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4282 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180722946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 810
(D810G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000103051]
[ENSMUST00000129695]
[ENSMUST00000149964]
[ENSMUST00000197015]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016491
|
SMART Domains |
Protein: ENSMUSP00000016491 Gene: ENSMUSG00000016346
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 benign
Transcript: ENSMUST00000049792
|
SMART Domains |
Protein: ENSMUSP00000052453 Gene: ENSMUSG00000016346
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 benign
Transcript: ENSMUST00000103047
|
SMART Domains |
Protein: ENSMUSP00000099336 Gene: ENSMUSG00000016346
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 benign
Transcript: ENSMUST00000103048
|
SMART Domains |
Protein: ENSMUSP00000099337 Gene: ENSMUSG00000016346
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: D762G
|
SMART Domains |
Protein: ENSMUSP00000099338 Gene: ENSMUSG00000016346 AA Change: D762G
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: D807G
|
SMART Domains |
Protein: ENSMUSP00000099339 Gene: ENSMUSG00000016346 AA Change: D807G
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: D820G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099340 Gene: ENSMUSG00000016346 AA Change: D820G
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 |
probably damaging
Transcript: ENSMUST00000129695
AA Change: D694G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123488 Gene: ENSMUSG00000016346 AA Change: D694G
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 |
probably damaging
Transcript: ENSMUST00000149964
AA Change: D838G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122915 Gene: ENSMUSG00000016346 AA Change: D838G
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: D810G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143263 Gene: ENSMUSG00000016346 AA Change: D810G
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: 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 |
noncoding transcript
Transcript: ENSMUST00000152099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197599
|
Meta Mutation Damage Score |
0.3043 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
probably damaging |
Het |
|
Other mutations in Kcnq2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01063:Kcnq2
|
APN |
2 |
180,751,582 (GRCm39) |
unclassified |
probably benign |
|
IGL02064:Kcnq2
|
APN |
2 |
180,750,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Kcnq2
|
APN |
2 |
180,723,508 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02261:Kcnq2
|
APN |
2 |
180,723,483 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02510:Kcnq2
|
APN |
2 |
180,723,154 (GRCm39) |
missense |
probably benign |
|
IGL02583:Kcnq2
|
APN |
2 |
180,723,295 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02627:Kcnq2
|
APN |
2 |
180,724,120 (GRCm39) |
unclassified |
probably benign |
|
IGL03303:Kcnq2
|
APN |
2 |
180,724,182 (GRCm39) |
missense |
probably benign |
|
R0269:Kcnq2
|
UTSW |
2 |
180,738,767 (GRCm39) |
missense |
probably benign |
0.00 |
R1535:Kcnq2
|
UTSW |
2 |
180,776,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Kcnq2
|
UTSW |
2 |
180,728,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Kcnq2
|
UTSW |
2 |
180,742,350 (GRCm39) |
missense |
probably benign |
0.01 |
R1946:Kcnq2
|
UTSW |
2 |
180,730,244 (GRCm39) |
missense |
probably benign |
0.09 |
R2105:Kcnq2
|
UTSW |
2 |
180,723,145 (GRCm39) |
missense |
probably benign |
0.03 |
R2382:Kcnq2
|
UTSW |
2 |
180,753,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R2912:Kcnq2
|
UTSW |
2 |
180,723,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Kcnq2
|
UTSW |
2 |
180,746,693 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3898:Kcnq2
|
UTSW |
2 |
180,751,479 (GRCm39) |
missense |
probably damaging |
0.97 |
R4938:Kcnq2
|
UTSW |
2 |
180,728,766 (GRCm39) |
missense |
probably damaging |
0.96 |
R4962:Kcnq2
|
UTSW |
2 |
180,753,836 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5055:Kcnq2
|
UTSW |
2 |
180,728,554 (GRCm39) |
intron |
probably benign |
|
R5107:Kcnq2
|
UTSW |
2 |
180,750,340 (GRCm39) |
intron |
probably benign |
|
R5371:Kcnq2
|
UTSW |
2 |
180,776,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Kcnq2
|
UTSW |
2 |
180,776,690 (GRCm39) |
missense |
probably benign |
0.07 |
R5839:Kcnq2
|
UTSW |
2 |
180,751,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5998:Kcnq2
|
UTSW |
2 |
180,728,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Kcnq2
|
UTSW |
2 |
180,729,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6207:Kcnq2
|
UTSW |
2 |
180,755,026 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6744:Kcnq2
|
UTSW |
2 |
180,727,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7018:Kcnq2
|
UTSW |
2 |
180,723,517 (GRCm39) |
nonsense |
probably null |
|
R7266:Kcnq2
|
UTSW |
2 |
180,776,885 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
R7291:Kcnq2
|
UTSW |
2 |
180,730,172 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7319:Kcnq2
|
UTSW |
2 |
180,750,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Kcnq2
|
UTSW |
2 |
180,754,887 (GRCm39) |
missense |
probably damaging |
0.97 |
R7573:Kcnq2
|
UTSW |
2 |
180,723,382 (GRCm39) |
missense |
probably benign |
0.04 |
R7897:Kcnq2
|
UTSW |
2 |
180,722,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Kcnq2
|
UTSW |
2 |
180,724,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Kcnq2
|
UTSW |
2 |
180,751,562 (GRCm39) |
missense |
probably damaging |
0.97 |
R9394:Kcnq2
|
UTSW |
2 |
180,724,217 (GRCm39) |
missense |
probably benign |
|
R9516:Kcnq2
|
UTSW |
2 |
180,776,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9544:Kcnq2
|
UTSW |
2 |
180,729,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R9592:Kcnq2
|
UTSW |
2 |
180,728,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAGAAAGGCCCTGGAACTCC -3'
(R):5'- TACCGAGTTCTTGAGGCTGG -3'
Sequencing Primer
(F):5'- TCCAGTTCTAAAACCGAACAAGAGTG -3'
(R):5'- TCTTGAGGCTGGAGGGCAC -3'
|
Posted On |
2015-06-20 |