Incidental Mutation 'R1535:Kcnq2'
| ID |
166865 |
| 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 |
039574-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1535 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180776618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 90
(G90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000197015]
[ENSMUST00000103051]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016491
AA Change: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: G90S
| 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 |
possibly damaging
Transcript: ENSMUST00000103047
AA Change: G90S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G33S
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: G33S
| 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: G90S
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: G90S
| 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 |
possibly damaging
Transcript: ENSMUST00000149964
AA Change: G90S
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G90S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: G90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: G90S
| 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: ENSMUST00000139458
|
| SMART Domains |
Protein: ENSMUSP00000130633
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
2.6e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
9.7e-15 |
PFAM |
|
low complexity region
|
408 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123336
|
| SMART Domains |
Protein: ENSMUSP00000130700
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
2.2e-30 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.6e-15 |
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: ENSMUST00000140789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144592
|
| SMART Domains |
Protein: ENSMUSP00000133237
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
5.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.2e-14 |
PFAM |
|
low complexity region
|
398 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154164
|
| SMART Domains |
Protein: ENSMUSP00000131544
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1.4e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
7.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129361
|
| SMART Domains |
Protein: ENSMUSP00000131756
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
310 |
7.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
311 |
2.9e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.6850 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,099,203 (GRCm39) |
S99P |
possibly damaging |
Het |
| Abca16 |
T |
A |
7: 120,139,928 (GRCm39) |
I1530N |
probably benign |
Het |
| Abcc9 |
T |
G |
6: 142,610,361 (GRCm39) |
Q601P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,980,631 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,939,913 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
G |
C |
18: 65,483,275 (GRCm39) |
S244R |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,398 (GRCm39) |
F108L |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Bend5 |
C |
A |
4: 111,316,960 (GRCm39) |
D374E |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,397,671 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Ccer2 |
G |
T |
7: 28,456,822 (GRCm39) |
G189* |
probably null |
Het |
| Ces2h |
A |
G |
8: 105,741,118 (GRCm39) |
T37A |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,307 (GRCm39) |
R40Q |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,623,203 (GRCm39) |
F213L |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,453,122 (GRCm39) |
E390G |
probably benign |
Het |
| Coq7 |
C |
T |
7: 118,128,897 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,451 (GRCm39) |
D136V |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,198,217 (GRCm39) |
L237P |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,998,692 (GRCm39) |
L549P |
unknown |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dis3 |
G |
T |
14: 99,316,862 (GRCm39) |
Q825K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,982,465 (GRCm39) |
R2568Q |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,538,279 (GRCm39) |
R2312S |
possibly damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,476 (GRCm39) |
E2041K |
probably damaging |
Het |
| Eci1 |
A |
G |
17: 24,658,064 (GRCm39) |
E282G |
probably benign |
Het |
| Egf |
T |
A |
3: 129,484,427 (GRCm39) |
T464S |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,613 (GRCm39) |
P97S |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,242,944 (GRCm39) |
V1065A |
possibly damaging |
Het |
| Ep400 |
G |
T |
5: 110,856,032 (GRCm39) |
|
probably benign |
Het |
| Fam13a |
A |
C |
6: 58,916,332 (GRCm39) |
I607S |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,728 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
| Fnip2 |
C |
A |
3: 79,389,072 (GRCm39) |
C553F |
probably damaging |
Het |
| Frmd3 |
G |
T |
4: 73,931,995 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
G |
A |
17: 27,653,775 (GRCm39) |
S470L |
probably benign |
Het |
| Gucy2e |
T |
A |
11: 69,117,070 (GRCm39) |
I784F |
probably damaging |
Het |
| H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,419 (GRCm39) |
T3338S |
possibly damaging |
Het |
| Idh1 |
C |
T |
1: 65,207,697 (GRCm39) |
G161R |
probably damaging |
Het |
| Idi1 |
T |
C |
13: 8,936,945 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
A |
T |
13: 8,990,680 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
G |
12: 5,134,486 (GRCm39) |
Y642H |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,443,994 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,334,486 (GRCm39) |
F4420I |
probably benign |
Het |
| Me1 |
A |
G |
9: 86,469,096 (GRCm39) |
S470P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,605 (GRCm39) |
S71P |
probably damaging |
Het |
| Mfsd3 |
T |
C |
15: 76,586,979 (GRCm39) |
L273P |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,361,207 (GRCm39) |
K757R |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,662,013 (GRCm39) |
V782D |
probably damaging |
Het |
| Nab2 |
C |
G |
10: 127,500,916 (GRCm39) |
E59Q |
probably damaging |
Het |
| Nfyc |
A |
T |
4: 120,618,921 (GRCm39) |
N244K |
probably damaging |
Het |
| Nupr2 |
A |
G |
5: 129,937,672 (GRCm39) |
I80M |
probably damaging |
Het |
| Or4c15b |
T |
C |
2: 89,113,401 (GRCm39) |
I46M |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,576 (GRCm39) |
T24A |
probably benign |
Het |
| Or5a1 |
A |
G |
19: 12,097,696 (GRCm39) |
C115R |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,977,065 (GRCm39) |
T602A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,094,301 (GRCm39) |
V561D |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,138,843 (GRCm39) |
V489E |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,057,629 (GRCm39) |
T181A |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,909,886 (GRCm39) |
M1T |
probably null |
Het |
| Sgsm1 |
A |
T |
5: 113,411,135 (GRCm39) |
S864T |
possibly damaging |
Het |
| Slc5a10 |
C |
A |
11: 61,564,767 (GRCm39) |
G404V |
possibly damaging |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,622 (GRCm39) |
K1790E |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,816,505 (GRCm39) |
E509G |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,708,176 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,102,026 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,040 (GRCm39) |
Y269C |
probably damaging |
Het |
| Wdr87-ps |
C |
T |
7: 29,229,004 (GRCm39) |
|
noncoding transcript |
Het |
| Yeats2 |
T |
A |
16: 20,008,115 (GRCm39) |
S416T |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,394,843 (GRCm39) |
H513Q |
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 |
|
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 |
|
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'- GCTTTAACCCGAGACTGCAATGC -3'
(R):5'- TTGTCCTGTGAGGCAGTACACCTG -3'
Sequencing Primer
(F):5'- GAGACTGCAATGCCACGAC -3'
(R):5'- ccgggccAGGTAGGAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation