Incidental Mutation 'R1776:Kcnq2'
| ID |
196999 |
| 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 |
039807-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180742350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 394
(T394S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000197015]
[ENSMUST00000129695]
[ENSMUST00000103051]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016491
AA Change: T394S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: T394S
| 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: T394S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: T394S
| 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
AA Change: T394S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: T394S
| 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: T394S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: T394S
| 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: T394S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: T394S
| 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: T347S
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: T347S
| 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: T404S
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: T404S
| 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: ENSMUST00000149964
AA Change: T404S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: T404S
| 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: T394S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: T394S
| 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: ENSMUST00000129695
AA Change: T290S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: T290S
| 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 benign
Transcript: ENSMUST00000103051
AA Change: T404S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: T404S
| 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 |
unknown
Transcript: ENSMUST00000197599
AA Change: T112S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145861
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
| Validation Efficiency |
98% (86/88) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,711,058 (GRCm39) |
|
noncoding transcript |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,767 (GRCm39) |
|
probably benign |
Het |
| A2m |
C |
G |
6: 121,618,383 (GRCm39) |
F225L |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 59,087,692 (GRCm39) |
I574N |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,417,300 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,780,361 (GRCm39) |
N1804K |
probably benign |
Het |
| Ankle1 |
G |
T |
8: 71,861,918 (GRCm39) |
V474F |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,269,615 (GRCm39) |
I568L |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdx1 |
G |
A |
18: 61,169,086 (GRCm39) |
A36V |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,730,170 (GRCm39) |
S123T |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,519,681 (GRCm39) |
Q231L |
probably damaging |
Het |
| Clcnkb |
T |
C |
4: 141,142,500 (GRCm39) |
|
probably benign |
Het |
| Crabp2 |
C |
A |
3: 87,860,301 (GRCm39) |
T125K |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
| Dnajb6 |
T |
C |
5: 29,990,091 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,380,593 (GRCm39) |
I1847N |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,362 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,163,654 (GRCm39) |
F2067L |
possibly damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,532,835 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
| Gm5250 |
A |
G |
1: 13,132,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,067,007 (GRCm39) |
S503P |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,099,950 (GRCm39) |
C124* |
probably null |
Het |
| Ift27 |
T |
C |
15: 78,050,181 (GRCm39) |
D76G |
probably null |
Het |
| Igdcc3 |
C |
T |
9: 65,090,034 (GRCm39) |
Q550* |
probably null |
Het |
| Igsf6 |
T |
A |
7: 120,667,522 (GRCm39) |
I165F |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,677,773 (GRCm39) |
I173M |
probably damaging |
Het |
| Kbtbd6 |
G |
A |
14: 79,690,045 (GRCm39) |
D247N |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,196,361 (GRCm39) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,591,933 (GRCm39) |
Q419R |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,773,152 (GRCm39) |
D1250G |
probably benign |
Het |
| Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,477,853 (GRCm39) |
M297L |
probably benign |
Het |
| Nsl1 |
G |
T |
1: 190,795,385 (GRCm39) |
M50I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,660,257 (GRCm39) |
T441A |
probably damaging |
Het |
| Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
| Or10d1c |
G |
A |
9: 38,894,190 (GRCm39) |
S50F |
probably damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,000 (GRCm39) |
V153I |
probably benign |
Het |
| Or8b12i |
G |
A |
9: 20,082,105 (GRCm39) |
T254I |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,885,114 (GRCm39) |
H151L |
possibly damaging |
Het |
| Pigz |
G |
A |
16: 31,763,397 (GRCm39) |
E152K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,312,446 (GRCm39) |
D779E |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,686,201 (GRCm39) |
E353V |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,520,950 (GRCm39) |
G741S |
probably damaging |
Het |
| Rplp0 |
T |
C |
5: 115,700,524 (GRCm39) |
Y231H |
probably benign |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rundc3b |
T |
C |
5: 8,629,050 (GRCm39) |
E117G |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,787,598 (GRCm39) |
M198K |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,500 (GRCm39) |
K122R |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,861,810 (GRCm39) |
|
probably benign |
Het |
| Setd3 |
C |
A |
12: 108,131,420 (GRCm39) |
G2V |
probably damaging |
Het |
| Sfxn5 |
A |
G |
6: 85,244,927 (GRCm39) |
|
probably benign |
Het |
| She |
T |
A |
3: 89,739,345 (GRCm39) |
S179T |
possibly damaging |
Het |
| Slc24a2 |
G |
A |
4: 87,094,526 (GRCm39) |
T331I |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,447 (GRCm39) |
S697P |
probably benign |
Het |
| Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,381 (GRCm39) |
T510A |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,339,588 (GRCm39) |
I125F |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,793,680 (GRCm39) |
I472F |
possibly damaging |
Het |
| Taar7f |
C |
T |
10: 23,925,546 (GRCm39) |
R47C |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,653 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
T |
A |
9: 58,274,011 (GRCm39) |
|
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,655,389 (GRCm39) |
I529T |
possibly damaging |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,035 (GRCm39) |
I24N |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,946,854 (GRCm39) |
T385A |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,973,379 (GRCm39) |
N244S |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,864,517 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
A |
T |
2: 130,076,789 (GRCm39) |
I372F |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,520 (GRCm39) |
D222G |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,636,508 (GRCm39) |
N233T |
probably benign |
Het |
| Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,496,237 (GRCm39) |
D429V |
possibly damaging |
Het |
| Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,460,400 (GRCm39) |
I2554V |
possibly damaging |
Het |
| Usp16 |
A |
G |
16: 87,276,204 (GRCm39) |
D513G |
probably damaging |
Het |
| Vip |
T |
C |
10: 5,594,992 (GRCm39) |
|
probably null |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,023 (GRCm39) |
I176V |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,819,806 (GRCm39) |
T1050A |
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 |
|
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 |
|
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'- GGAAATGCACTGCTGGGACACTAC -3'
(R):5'- GGGATAAAGACAGCCCTGGAGTTTG -3'
Sequencing Primer
(F):5'- GATGCCTGATCAAAGTTCACTC -3'
(R):5'- AGGTGTTCTGCACCCATGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation