Incidental Mutation 'R7595:Kcnc3'
| ID |
587671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnc3
|
| Ensembl Gene |
ENSMUSG00000062785 |
| Gene Name |
potassium voltage gated channel, Shaw-related subfamily, member 3 |
| Synonyms |
KShIIID, Kv3.3, Kcr2-3 |
| MMRRC Submission |
045640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44240088-44254178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44240893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 195
(R195H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002274]
[ENSMUST00000107906]
[ENSMUST00000107907]
[ENSMUST00000207493]
[ENSMUST00000208651]
[ENSMUST00000209177]
|
| AlphaFold |
Q63959 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002274
|
| SMART Domains |
Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
72 |
396 |
6.6e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107906
AA Change: R195H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: R195H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Potassium_chann
|
1 |
21 |
8e-9 |
PFAM |
|
BTB
|
90 |
194 |
4.38e-12 |
SMART |
|
low complexity region
|
211 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
267 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
290 |
551 |
4.1e-45 |
PFAM |
|
Pfam:Ion_trans_2
|
451 |
544 |
8.2e-12 |
PFAM |
|
low complexity region
|
578 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107907
AA Change: R195H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: R195H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
|
BTB
|
90 |
194 |
4.38e-12 |
SMART |
|
low complexity region
|
211 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
267 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
351 |
539 |
1.5e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
450 |
544 |
2.4e-11 |
PFAM |
|
low complexity region
|
578 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207493
AA Change: R195H
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207497
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208651
AA Change: R195H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209177
AA Change: R195H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,878,234 (GRCm39) |
F1177S |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,133,230 (GRCm39) |
E658V |
probably damaging |
Het |
| Anxa6 |
C |
A |
11: 54,875,911 (GRCm39) |
V591L |
probably benign |
Het |
| Atp6ap1l |
A |
T |
13: 91,039,135 (GRCm39) |
S141T |
probably damaging |
Het |
| Bcar1 |
A |
C |
8: 112,447,625 (GRCm39) |
N117K |
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,383 (GRCm39) |
S713P |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,992,261 (GRCm39) |
D144G |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,645,016 (GRCm39) |
V190D |
probably damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,189,089 (GRCm39) |
L473M |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,378,633 (GRCm39) |
L331R |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,976,058 (GRCm39) |
D244G |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,698,161 (GRCm39) |
E282G |
probably damaging |
Het |
| Eml4 |
A |
G |
17: 83,763,513 (GRCm39) |
Q576R |
probably benign |
Het |
| Fa2h |
T |
A |
8: 112,082,122 (GRCm39) |
I175F |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,627 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,867 (GRCm39) |
D123G |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,517,094 (GRCm39) |
T201A |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,447 (GRCm39) |
S364G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,704 (GRCm39) |
D641E |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,145,759 (GRCm39) |
P1757S |
probably benign |
Het |
| Klf14 |
T |
C |
6: 30,935,475 (GRCm39) |
K53R |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,132 (GRCm39) |
D82G |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,124,171 (GRCm39) |
F1702S |
probably benign |
Het |
| Mfsd4b1 |
A |
T |
10: 39,879,221 (GRCm39) |
Y225* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,395,611 (GRCm39) |
F313V |
probably benign |
Het |
| Pcsk4 |
T |
A |
10: 80,157,935 (GRCm39) |
D601V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,358,917 (GRCm39) |
D375E |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,063,650 (GRCm39) |
L2S |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,268,085 (GRCm39) |
V63I |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,634,779 (GRCm39) |
N198K |
possibly damaging |
Het |
| Samd5 |
T |
C |
10: 9,504,738 (GRCm39) |
N172S |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,303,097 (GRCm39) |
H542Q |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,985 (GRCm39) |
E327G |
probably benign |
Het |
| Spopfm3 |
A |
G |
3: 94,105,724 (GRCm39) |
D14G |
probably benign |
Het |
| Srgn |
T |
A |
10: 62,343,785 (GRCm39) |
|
probably benign |
Het |
| Taar6 |
C |
T |
10: 23,860,968 (GRCm39) |
V193I |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,835,569 (GRCm39) |
A987V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,195,059 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,787,135 (GRCm39) |
L714P |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,696,111 (GRCm39) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 12,994,998 (GRCm39) |
D386G |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,056,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kcnc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01016:Kcnc3
|
APN |
7 |
44,244,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Kcnc3
|
APN |
7 |
44,240,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Kcnc3
|
APN |
7 |
44,245,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02807:Kcnc3
|
APN |
7 |
44,245,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Kcnc3
|
APN |
7 |
44,240,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
elfen
|
UTSW |
7 |
44,240,720 (GRCm39) |
frame shift |
probably null |
|
|
Le_fitness
|
UTSW |
7 |
44,244,606 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Svelte
|
UTSW |
7 |
44,245,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Trim
|
UTSW |
7 |
44,245,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Kcnc3
|
UTSW |
7 |
44,245,352 (GRCm39) |
nonsense |
probably null |
|
|
R0827:Kcnc3
|
UTSW |
7 |
44,244,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1514:Kcnc3
|
UTSW |
7 |
44,245,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2875:Kcnc3
|
UTSW |
7 |
44,240,961 (GRCm39) |
nonsense |
probably null |
|
|
R4597:Kcnc3
|
UTSW |
7 |
44,245,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Kcnc3
|
UTSW |
7 |
44,240,720 (GRCm39) |
frame shift |
probably null |
|
|
R4955:Kcnc3
|
UTSW |
7 |
44,240,720 (GRCm39) |
frame shift |
probably null |
|
|
R6012:Kcnc3
|
UTSW |
7 |
44,248,296 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6093:Kcnc3
|
UTSW |
7 |
44,240,932 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6488:Kcnc3
|
UTSW |
7 |
44,244,606 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7542:Kcnc3
|
UTSW |
7 |
44,245,138 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7909:Kcnc3
|
UTSW |
7 |
44,245,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7946:Kcnc3
|
UTSW |
7 |
44,245,569 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8676:Kcnc3
|
UTSW |
7 |
44,241,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9156:Kcnc3
|
UTSW |
7 |
44,240,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9396:Kcnc3
|
UTSW |
7 |
44,240,937 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9545:Kcnc3
|
UTSW |
7 |
44,245,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnc3
|
UTSW |
7 |
44,245,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGAGTTCTTCTTCGACCG -3'
(R):5'- GAAGGGCTTCCAGAGAACTG -3'
Sequencing Primer
(F):5'- GAGTTCTTCTTCGACCGTCACC -3'
(R):5'- TAGGGGTCCTCAAAAAGCGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation