Incidental Mutation 'R7266:Kcnq2'
ID |
564917 |
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 |
045389-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7266 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 180776885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000103051]
[ENSMUST00000197015]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000016491
AA Change: M1V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000016491 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000049792
AA Change: M1V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000052453 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000081528
AA Change: M1V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000080243 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000103047
AA Change: M1V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099336 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000103048
AA Change: M1V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099337 Gene: ENSMUSG00000016346 AA Change: M1V
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 |
probably benign
Transcript: ENSMUST00000103049
|
SMART Domains |
Protein: ENSMUSP00000099338 Gene: ENSMUSG00000016346
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 |
probably null
Transcript: ENSMUST00000103050
AA Change: M1V
|
SMART Domains |
Protein: ENSMUSP00000099339 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000149964
AA Change: M1V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122915 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000103051
AA Change: M1V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099340 Gene: ENSMUSG00000016346 AA Change: M1V
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 null
Transcript: ENSMUST00000197015
AA Change: M1V
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143263 Gene: ENSMUSG00000016346 AA Change: M1V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
Immt |
T |
A |
6: 71,851,689 (GRCm39) |
D683E |
probably benign |
Het |
Itga8 |
T |
G |
2: 12,237,712 (GRCm39) |
D336A |
probably damaging |
Het |
Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
Manba |
T |
C |
3: 135,223,673 (GRCm39) |
S187P |
probably damaging |
Het |
Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,600,590 (GRCm39) |
S1532R |
unknown |
Het |
Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
probably benign |
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 |
R4282:Kcnq2
|
UTSW |
2 |
180,722,946 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GAGGAAATTCTGCAGCTTGC -3'
(R):5'- CAATGGCGTCGTAGGGGTTAAG -3'
Sequencing Primer
(F):5'- CAGCTTGCGGTAGAAGGC -3'
(R):5'- CGTAGGGGTTAAGGCGGGC -3'
|
Posted On |
2019-06-26 |