Incidental Mutation 'IGL02231:Kcnq2'
| ID |
285702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnq2
|
| Ensembl Gene |
ENSMUSG00000016346 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 2 |
| Synonyms |
KQT2, Nmf134 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181075579-181135300 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181081715 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 654
(I654V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052453
(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
AA Change: I659V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: I659V
| 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
AA Change: I654V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: I654V
| 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
AA Change: I647V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: I647V
| 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
AA Change: I623V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: I623V
| 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: I575V
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: I575V
| 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: I620V
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: I620V
| 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 benign
Transcript: ENSMUST00000103051
AA Change: I633V
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: I633V
| 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 benign
Transcript: ENSMUST00000129695
AA Change: I507V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: I507V
| 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 benign
Transcript: ENSMUST00000149964
AA Change: I651V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: I651V
| 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 benign
Transcript: ENSMUST00000197015
AA Change: I623V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: I623V
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610507B11Rik |
G |
A |
11: 78,279,896 |
G1647D |
probably benign |
Het |
| Alcam |
T |
A |
16: 52,274,050 |
|
probably benign |
Het |
| Alox15 |
A |
C |
11: 70,349,556 |
D266E |
probably benign |
Het |
| Atcay |
A |
T |
10: 81,210,548 |
V314E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,550,384 |
G758R |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,277,908 |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,842,510 |
V2429A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,559,228 |
D11E |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,658,210 |
T573A |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,618,606 |
S140T |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,828,888 |
D50G |
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,908,515 |
T438I |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,618,393 |
V173I |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,281,092 |
T2932A |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,385,162 |
E154K |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,385,163 |
E154V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,495,447 |
L244* |
probably null |
Het |
| Itgae |
A |
T |
11: 73,090,622 |
K2M |
possibly damaging |
Het |
| Ksr2 |
C |
T |
5: 117,500,776 |
R82C |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,997,172 |
D305V |
probably damaging |
Het |
| Me1 |
T |
C |
9: 86,611,855 |
K322E |
possibly damaging |
Het |
| Med12l |
T |
A |
3: 59,245,882 |
D1109E |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,740,773 |
K73E |
possibly damaging |
Het |
| Nup155 |
T |
G |
15: 8,144,064 |
L881R |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,541,114 |
S2T |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,699,439 |
L54S |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 141,084,238 |
E443K |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,400,069 |
C632S |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 181,197,001 |
V320I |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,238,060 |
I273N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 162,278,046 |
|
probably null |
Het |
| Rab3gap2 |
T |
C |
1: 185,266,898 |
|
probably benign |
Het |
| Rabgef1 |
G |
A |
5: 130,211,975 |
A312T |
probably damaging |
Het |
| Rabl6 |
T |
A |
2: 25,598,184 |
K109N |
probably benign |
Het |
| Rbp7 |
C |
T |
4: 149,454,877 |
|
probably null |
Het |
| Reg3a |
C |
T |
6: 78,382,241 |
H75Y |
possibly damaging |
Het |
| Rnf123 |
G |
T |
9: 108,066,399 |
P546T |
probably benign |
Het |
| Rnmt |
C |
A |
18: 68,314,081 |
C345* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,110,728 |
S764N |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,209,021 |
S25N |
possibly damaging |
Het |
| Spata16 |
G |
T |
3: 26,913,264 |
G388W |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,423,387 |
R2493W |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,428,697 |
D970V |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 77,604,812 |
Y103H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,798,096 |
D12827E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,791,168 |
L976S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,396,810 |
R265* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,485 |
|
probably null |
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 |
|
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 |
|
R2912:Kcnq2
|
UTSW |
2 |
181081774 |
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 |
|
R8942:Kcnq2
|
UTSW |
2 |
181082451 |
missense |
probably damaging |
1.00 |
|
R9381:Kcnq2
|
UTSW |
2 |
181109769 |
missense |
probably damaging |
0.97 |
|
R9394:Kcnq2
|
UTSW |
2 |
181082424 |
missense |
probably benign |
|
|
R9516:Kcnq2
|
UTSW |
2 |
181134960 |
missense |
probably benign |
0.00 |
|
R9544:Kcnq2
|
UTSW |
2 |
181087614 |
missense |
probably damaging |
1.00 |
|
R9592:Kcnq2
|
UTSW |
2 |
181087020 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation