Incidental Mutation 'R5998:Kcnq2'
| ID |
480667 |
| 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 |
044177-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181075579-181135300 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181087008 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 548
(H548R)
|
| 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 damaging
Transcript: ENSMUST00000016491
AA Change: H548R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: H548R
| 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: H548R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: H548R
| 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 damaging
Transcript: ENSMUST00000081528
AA Change: H548R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: H548R
| 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: H536R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: H536R
| 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: H548R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: H548R
| 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: H500R
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: H500R
| 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: H545R
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: H545R
| 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: H558R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: H558R
| 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: H432R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: H432R
| 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: H576R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: H576R
| 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 |
unknown
Transcript: ENSMUST00000197599
AA Change: H254R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197015
AA Change: H548R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: H548R
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,567,708 |
V4437I |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,757,534 |
I71T |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,541,649 |
I630V |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,198,348 |
V470E |
probably damaging |
Het |
| Adcy6 |
C |
A |
15: 98,594,354 |
E1008* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,431,501 |
|
probably null |
Het |
| Ahrr |
T |
A |
13: 74,213,836 |
S515C |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,383,123 |
I416T |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 80,030,950 |
S1096P |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,433,867 |
|
probably null |
Het |
| Bcl6b |
A |
C |
11: 70,228,183 |
I200M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 117,120,999 |
E234V |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 15,910,443 |
T3324I |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,837,153 |
V186I |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,766,003 |
T533I |
possibly damaging |
Het |
| Gm10471 |
T |
C |
5: 26,084,706 |
D241G |
probably damaging |
Het |
| Gm8994 |
T |
C |
6: 136,328,624 |
F28L |
probably benign |
Het |
| Helz |
G |
T |
11: 107,685,534 |
E1851* |
probably null |
Het |
| Igkv15-103 |
T |
A |
6: 68,437,505 |
F13Y |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,481,142 |
|
probably null |
Het |
| Micall2 |
T |
C |
5: 139,706,911 |
|
probably null |
Het |
| Mill2 |
A |
G |
7: 18,840,064 |
R25G |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,368,280 |
H1041Y |
probably damaging |
Het |
| Olfr180 |
T |
C |
16: 58,916,630 |
T4A |
probably benign |
Het |
| Olfr926 |
G |
A |
9: 38,877,869 |
R231H |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,507,454 |
E559G |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,815,453 |
V2094A |
probably benign |
Het |
| Ppp1r32 |
A |
T |
19: 10,481,352 |
W105R |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,783,157 |
L2894Q |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,670,000 |
V256A |
possibly damaging |
Het |
| Zfp516 |
T |
C |
18: 82,956,514 |
L279P |
probably damaging |
Het |
| Zfp780b |
T |
A |
7: 27,964,622 |
K169N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACCTCCAAAGCTGGTAC -3'
(R):5'- TGGCCCAGTTGAGGATGGATAC -3'
Sequencing Primer
(F):5'- AAAGCTGGTACTGGCCCTGTTC -3'
(R):5'- GAGGATGGATACTATTTCCCATGGAC -3'
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| Posted On |
2017-06-26 |
Incidental Mutation