Incidental Mutation 'R7319:Kcnq2'
| ID |
568035 |
| 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 |
045415-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180750895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 315
(G315S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000103051]
[ENSMUST00000129695]
[ENSMUST00000197015]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016491
AA Change: G315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: G315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: G315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: G315S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: G315S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: G315S
| 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 damaging
Transcript: ENSMUST00000103049
AA Change: G258S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: G258S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: ENSMUST00000149964
AA Change: G315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: ENSMUST00000103051
AA Change: G315S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: G201S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: G201S
| 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: ENSMUST00000197015
AA Change: G315S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: G315S
| 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: ENSMUST00000197599
AA Change: G33S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (79/82) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
T |
14: 70,393,635 (GRCm39) |
I287N |
probably benign |
Het |
| Aco2 |
G |
T |
15: 81,787,820 (GRCm39) |
E223D |
probably damaging |
Het |
| Acsf3 |
T |
A |
8: 123,539,770 (GRCm39) |
I466N |
probably damaging |
Het |
| Albfm1 |
G |
A |
5: 90,719,625 (GRCm39) |
|
probably null |
Het |
| Aox3 |
T |
A |
1: 58,191,761 (GRCm39) |
F438I |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,225,794 (GRCm39) |
T591A |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,888,694 (GRCm39) |
A191V |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,006,779 (GRCm39) |
K5E |
probably benign |
Het |
| C1galt1 |
T |
A |
6: 7,871,150 (GRCm39) |
Y329N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,608,435 (GRCm39) |
I824T |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,817 (GRCm39) |
I182V |
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,302,496 (GRCm39) |
|
probably null |
Het |
| Chek1 |
T |
A |
9: 36,633,939 (GRCm39) |
R129W |
probably damaging |
Het |
| Chrna6 |
A |
G |
8: 27,896,815 (GRCm39) |
M354T |
possibly damaging |
Het |
| Cpq |
A |
G |
15: 33,250,185 (GRCm39) |
T181A |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,287,472 (GRCm39) |
Y1069F |
|
Het |
| Defb28 |
T |
A |
2: 152,361,974 (GRCm39) |
C45S |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 31,018,551 (GRCm39) |
Y1360H |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,823,608 (GRCm39) |
V3749A |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,819,935 (GRCm39) |
D3728E |
probably benign |
Het |
| Dym |
G |
A |
18: 75,196,245 (GRCm39) |
|
probably null |
Het |
| Dync2i2 |
G |
A |
2: 29,928,341 (GRCm39) |
P95L |
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,747,903 (GRCm39) |
|
probably null |
Het |
| Eef1akmt4 |
A |
G |
16: 20,436,666 (GRCm39) |
K163E |
probably benign |
Het |
| Fbrs |
A |
G |
7: 127,081,985 (GRCm39) |
T242A |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,885,146 (GRCm39) |
V87M |
possibly damaging |
Het |
| Fst |
A |
T |
13: 114,595,068 (GRCm39) |
C19S |
probably benign |
Het |
| Gm7276 |
G |
A |
18: 77,273,216 (GRCm39) |
R173W |
unknown |
Het |
| Gm9195 |
G |
A |
14: 72,697,929 (GRCm39) |
H1284Y |
probably benign |
Het |
| Herc6 |
C |
A |
6: 57,581,074 (GRCm39) |
T258K |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,137,174 (GRCm39) |
Y678C |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,798,243 (GRCm39) |
N58K |
probably damaging |
Het |
| Ighv1-26 |
A |
T |
12: 114,752,163 (GRCm39) |
H60Q |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,746,520 (GRCm39) |
F1276L |
probably damaging |
Het |
| Itprid2 |
A |
T |
2: 79,466,416 (GRCm39) |
D82V |
probably damaging |
Het |
| Kcnc4 |
T |
A |
3: 107,366,100 (GRCm39) |
E36V |
probably benign |
Het |
| Kdm4c |
G |
A |
4: 74,255,200 (GRCm39) |
V585M |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,592 (GRCm39) |
R106H |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,221 (GRCm39) |
F313S |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,443,740 (GRCm39) |
S808T |
unknown |
Het |
| Lrch3 |
A |
G |
16: 32,815,363 (GRCm39) |
T585A |
probably benign |
Het |
| Lrch4 |
T |
A |
5: 137,637,977 (GRCm39) |
H86Q |
|
Het |
| Map3k20 |
A |
G |
2: 72,195,062 (GRCm39) |
D113G |
probably damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,417 (GRCm39) |
S181P |
probably benign |
Het |
| Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,303,490 (GRCm39) |
R147G |
possibly damaging |
Het |
| Mrps5 |
T |
A |
2: 127,437,762 (GRCm39) |
S196R |
possibly damaging |
Het |
| Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,526,185 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
T |
4: 41,477,575 (GRCm39) |
M19L |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,146,245 (GRCm39) |
P779S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,489,530 (GRCm39) |
T379A |
probably benign |
Het |
| Plekha8 |
A |
C |
6: 54,601,206 (GRCm39) |
M270L |
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,192,885 (GRCm39) |
H593R |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,637,196 (GRCm39) |
N293S |
possibly damaging |
Het |
| Pramel32 |
G |
A |
4: 88,548,184 (GRCm39) |
P74S |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,532 (GRCm39) |
N866K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,757,790 (GRCm39) |
I308L |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,177,309 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
| Rnaset2b |
A |
T |
17: 7,259,166 (GRCm39) |
D144V |
probably benign |
Het |
| Senp6 |
T |
G |
9: 80,033,481 (GRCm39) |
D662E |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,200,817 (GRCm39) |
N200S |
possibly damaging |
Het |
| Serpinb9g |
C |
G |
13: 33,672,543 (GRCm39) |
Y113* |
probably null |
Het |
| Sgf29 |
T |
C |
7: 126,270,821 (GRCm39) |
I134T |
probably benign |
Het |
| Sh3bp4 |
T |
G |
1: 89,080,824 (GRCm39) |
|
probably null |
Het |
| Stab1 |
G |
A |
14: 30,862,783 (GRCm39) |
L2243F |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,770 (GRCm39) |
V149A |
probably benign |
Het |
| Syt3 |
C |
T |
7: 44,041,953 (GRCm39) |
Q271* |
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,663 (GRCm39) |
I89T |
probably benign |
Het |
| Tgif1 |
A |
G |
17: 71,151,847 (GRCm39) |
S255P |
probably damaging |
Het |
| Tm9sf1 |
G |
A |
14: 55,875,432 (GRCm39) |
|
probably benign |
Het |
| Tnf |
A |
G |
17: 35,419,347 (GRCm39) |
F161S |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,579,428 (GRCm39) |
S779R |
possibly damaging |
Het |
| Topors |
A |
G |
4: 40,260,540 (GRCm39) |
S915P |
unknown |
Het |
| Tpm4 |
C |
T |
8: 72,900,321 (GRCm39) |
L161F |
probably damaging |
Het |
| Trim38 |
C |
T |
13: 23,975,384 (GRCm39) |
T441I |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,141,620 (GRCm39) |
M548V |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,883,042 (GRCm39) |
T237S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,209 (GRCm39) |
S538P |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,813,294 (GRCm39) |
T649I |
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 |
|
|
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 |
|
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'- GCTACAGCCTATCCATATACAGGG -3'
(R):5'- GGCTCCTGATTGGGATCACTAG -3'
Sequencing Primer
(F):5'- CTATCCATATACAGGGAAAAGCATG -3'
(R):5'- ATTGGGATCACTAGGCACTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation