Incidental Mutation 'R3939:Kcnd2'
| ID |
308597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnd2
|
| Ensembl Gene |
ENSMUSG00000060882 |
| Gene Name |
potassium voltage-gated channel, Shal-related family, member 2 |
| Synonyms |
Kv4.2 |
| MMRRC Submission |
040826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R3939 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
21215502-21729804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21217095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081542]
|
| AlphaFold |
Q9Z0V2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081542
AA Change: D266E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: D266E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shal-type
|
3 |
31 |
4.5e-16 |
PFAM |
|
BTB
|
41 |
140 |
3.42e-14 |
SMART |
|
Pfam:Ion_trans
|
184 |
417 |
1.4e-44 |
PFAM |
|
Pfam:Ion_trans_2
|
330 |
411 |
5.5e-15 |
PFAM |
|
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
|
Pfam:DUF3399
|
445 |
546 |
5.5e-44 |
PFAM |
|
low complexity region
|
594 |
608 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9538 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,359,501 (GRCm39) |
R169L |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,698,861 (GRCm39) |
I491V |
unknown |
Het |
| Corin |
T |
C |
5: 72,497,222 (GRCm39) |
D531G |
possibly damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,710 (GRCm39) |
V231I |
probably benign |
Het |
| Dennd4c |
T |
G |
4: 86,692,517 (GRCm39) |
V9G |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
G |
4: 109,719,076 (GRCm39) |
L394R |
probably damaging |
Het |
| Fgfr4 |
G |
A |
13: 55,304,307 (GRCm39) |
D116N |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,053 (GRCm39) |
Y518H |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,211 (GRCm39) |
L542F |
possibly damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,362 (GRCm39) |
E120V |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,457,618 (GRCm39) |
I285N |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,133,089 (GRCm39) |
W63* |
probably null |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,058,627 (GRCm39) |
V2208I |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,135 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,515,849 (GRCm39) |
I1207T |
probably damaging |
Het |
| Obox7 |
G |
A |
7: 14,397,972 (GRCm39) |
G4D |
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,300,655 (GRCm39) |
W827* |
probably null |
Het |
| Or13g1 |
T |
C |
7: 85,955,437 (GRCm39) |
M295V |
probably benign |
Het |
| Or4c118 |
T |
A |
2: 88,974,474 (GRCm39) |
K298* |
probably null |
Het |
| Or4k15c |
A |
G |
14: 50,321,173 (GRCm39) |
*322Q |
probably null |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sbpl |
T |
A |
17: 24,172,617 (GRCm39) |
I101L |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,975,151 (GRCm39) |
M1L |
probably benign |
Het |
| Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
A |
G |
3: 122,908,239 (GRCm39) |
V359A |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,471,574 (GRCm39) |
D785G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,314,473 (GRCm39) |
H355Y |
probably damaging |
Het |
|
| Other mutations in Kcnd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Kcnd2
|
APN |
6 |
21,714,153 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01124:Kcnd2
|
APN |
6 |
21,217,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Kcnd2
|
APN |
6 |
21,727,339 (GRCm39) |
makesense |
probably null |
|
|
IGL01534:Kcnd2
|
APN |
6 |
21,726,144 (GRCm39) |
missense |
probably benign |
|
|
IGL02623:Kcnd2
|
APN |
6 |
21,726,194 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02682:Kcnd2
|
APN |
6 |
21,216,924 (GRCm39) |
nonsense |
probably null |
|
|
IGL02874:Kcnd2
|
APN |
6 |
21,216,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Kcnd2
|
APN |
6 |
21,217,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02983:Kcnd2
|
APN |
6 |
21,216,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Kcnd2
|
APN |
6 |
21,216,508 (GRCm39) |
nonsense |
probably null |
|
|
IGL03154:Kcnd2
|
APN |
6 |
21,216,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03174:Kcnd2
|
APN |
6 |
21,216,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03296:Kcnd2
|
APN |
6 |
21,714,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Kcnd2
|
UTSW |
6 |
21,727,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0062:Kcnd2
|
UTSW |
6 |
21,727,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0325:Kcnd2
|
UTSW |
6 |
21,216,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0771:Kcnd2
|
UTSW |
6 |
21,216,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Kcnd2
|
UTSW |
6 |
21,727,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Kcnd2
|
UTSW |
6 |
21,726,238 (GRCm39) |
splice site |
probably benign |
|
|
R0884:Kcnd2
|
UTSW |
6 |
21,216,540 (GRCm39) |
missense |
probably benign |
|
|
R1434:Kcnd2
|
UTSW |
6 |
21,216,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Kcnd2
|
UTSW |
6 |
21,216,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3863:Kcnd2
|
UTSW |
6 |
21,217,262 (GRCm39) |
nonsense |
probably null |
|
|
R4427:Kcnd2
|
UTSW |
6 |
21,216,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4561:Kcnd2
|
UTSW |
6 |
21,216,395 (GRCm39) |
missense |
probably benign |
|
|
R4707:Kcnd2
|
UTSW |
6 |
21,723,211 (GRCm39) |
missense |
probably benign |
|
|
R5523:Kcnd2
|
UTSW |
6 |
21,723,211 (GRCm39) |
missense |
probably benign |
|
|
R5545:Kcnd2
|
UTSW |
6 |
21,217,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5926:Kcnd2
|
UTSW |
6 |
21,217,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6900:Kcnd2
|
UTSW |
6 |
21,216,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7010:Kcnd2
|
UTSW |
6 |
21,216,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Kcnd2
|
UTSW |
6 |
21,216,177 (GRCm39) |
start gained |
probably benign |
|
|
R7183:Kcnd2
|
UTSW |
6 |
21,216,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Kcnd2
|
UTSW |
6 |
21,216,777 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7463:Kcnd2
|
UTSW |
6 |
21,216,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8007:Kcnd2
|
UTSW |
6 |
21,217,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8305:Kcnd2
|
UTSW |
6 |
21,726,197 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Kcnd2
|
UTSW |
6 |
21,216,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Kcnd2
|
UTSW |
6 |
21,725,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Kcnd2
|
UTSW |
6 |
21,727,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9766:Kcnd2
|
UTSW |
6 |
21,216,367 (GRCm39) |
missense |
probably benign |
0.20 |
|
X0021:Kcnd2
|
UTSW |
6 |
21,217,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Kcnd2
|
UTSW |
6 |
21,216,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGGGTTCTTCATTGCCGTC -3'
(R):5'- CCAGTTCTGATGCACAGCTC -3'
Sequencing Primer
(F):5'- AAACAGTTCCATGTGGGTCTAGCC -3'
(R):5'- ATGCACAGCTCTTCAGGGTGTAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation