Incidental Mutation 'IGL02064:Kcnq2'
| ID |
283311 |
| 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 # |
IGL02064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181075579-181135300 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181109026 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 340
(I340N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122915
(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: I340N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I283N
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: I283N
| 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: I340N
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129695
AA Change: I226N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: I226N
| 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: ENSMUST00000149964
AA Change: I340N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: I340N
| 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: I340N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: I340N
| 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 |
unknown
Transcript: ENSMUST00000197599
AA Change: I58N
|
| 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: 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: 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: ENSMUST00000140789
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732456N10Rik |
T |
C |
15: 101,562,653 |
H58R |
possibly damaging |
Het |
| Acap2 |
A |
C |
16: 31,127,328 |
W284G |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 122,780,247 |
L93P |
possibly damaging |
Het |
| Agbl2 |
G |
T |
2: 90,784,024 |
|
probably benign |
Het |
| Arap3 |
C |
T |
18: 37,991,701 |
G242D |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,524,344 |
V1804I |
possibly damaging |
Het |
| BC025446 |
A |
G |
15: 75,221,656 |
|
probably benign |
Het |
| Bnc1 |
C |
A |
7: 81,973,503 |
V659L |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,602,727 |
S899N |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,507,363 |
E103G |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,927,831 |
T195A |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 118,855,012 |
I8T |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,692,372 |
S833F |
probably benign |
Het |
| Cryba2 |
T |
A |
1: 74,890,561 |
D139V |
possibly damaging |
Het |
| Emp1 |
T |
A |
6: 135,377,212 |
M1K |
probably null |
Het |
| Exosc4 |
C |
A |
15: 76,329,636 |
A220E |
probably damaging |
Het |
| Fam189b |
C |
T |
3: 89,188,596 |
R545* |
probably null |
Het |
| Fryl |
A |
G |
5: 73,124,769 |
|
probably benign |
Het |
| Gm8298 |
T |
C |
3: 59,877,042 |
L312P |
probably damaging |
Het |
| Grid2 |
C |
T |
6: 64,063,935 |
T287I |
probably benign |
Het |
| Grifin |
C |
T |
5: 140,564,739 |
A7T |
probably damaging |
Het |
| Gzmg |
T |
C |
14: 56,157,341 |
K157E |
probably benign |
Het |
| Klrb1 |
T |
A |
6: 128,710,637 |
H98L |
probably benign |
Het |
| Krtap5-2 |
C |
A |
7: 142,175,731 |
G71C |
unknown |
Het |
| Krtap7-1 |
A |
T |
16: 89,508,123 |
M47K |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,427,276 |
|
probably null |
Het |
| Musk |
A |
G |
4: 58,286,128 |
N6S |
possibly damaging |
Het |
| Olfr169 |
A |
G |
16: 19,566,548 |
C112R |
probably damaging |
Het |
| Olfr33 |
A |
G |
7: 102,713,601 |
F271L |
probably damaging |
Het |
| Olfr482 |
T |
G |
7: 108,095,247 |
T108P |
probably benign |
Het |
| Olfr682-ps1 |
A |
T |
7: 105,127,034 |
F89Y |
possibly damaging |
Het |
| Olfr893 |
T |
A |
9: 38,209,578 |
I122N |
probably damaging |
Het |
| Pcdh19 |
A |
G |
X: 133,685,970 |
M432T |
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,441,342 |
F495S |
probably damaging |
Het |
| Prkar2a |
T |
C |
9: 108,733,204 |
Y211H |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,708,077 |
G1143V |
probably damaging |
Het |
| Rbbp7 |
A |
G |
X: 162,769,787 |
|
probably null |
Het |
| Scel |
C |
A |
14: 103,533,326 |
H65Q |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,343,814 |
|
probably benign |
Het |
| Sfswap |
C |
A |
5: 129,560,796 |
T839N |
probably benign |
Het |
| Slc15a1 |
G |
T |
14: 121,462,474 |
P644H |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,462,499 |
I636V |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 45,286,459 |
I38N |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,579,473 |
Q218* |
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,507,675 |
L237* |
probably null |
Het |
| Trpm7 |
C |
T |
2: 126,797,943 |
E1578K |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,330,667 |
T896I |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,163 |
D339G |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,615,606 |
Y683F |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,914,204 |
L466Q |
probably damaging |
Het |
|
| Other mutations in Kcnq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Kcnq2
|
APN |
2 |
181109789 |
unclassified |
probably benign |
|
|
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 |
|
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