Incidental Mutation 'R3037:Kcnab2'
| ID |
264840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnab2
|
| Ensembl Gene |
ENSMUSG00000028931 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, beta member 2 |
| Synonyms |
F5, I2rf5, Kcnb3, I2rf5 |
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152475201-152562006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152478213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 349
(I349F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005175]
[ENSMUST00000030768]
[ENSMUST00000030775]
[ENSMUST00000105648]
[ENSMUST00000159186]
[ENSMUST00000159840]
[ENSMUST00000160884]
[ENSMUST00000164662]
|
| AlphaFold |
P62482 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005175
|
| SMART Domains |
Protein: ENSMUSP00000005175
Gene: ENSMUSG00000005045
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
2e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1729 |
1901 |
1.7e-99 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030768
AA Change: I320F
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
AA Change: I320F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
37 |
342 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030775
|
| SMART Domains |
Protein: ENSMUSP00000030775
Gene: ENSMUSG00000005045
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
150 |
203 |
9e-28 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1297 |
1361 |
2.78e-33 |
SMART |
|
DUF1086
|
1374 |
1533 |
5.11e-105 |
SMART |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1685 |
1701 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1730 |
1901 |
2.8e-93 |
PFAM |
|
low complexity region
|
1922 |
1936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105648
AA Change: I334F
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931
AA Change: I334F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
51 |
356 |
7e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124423
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159186
AA Change: I349F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931
AA Change: I349F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
51 |
371 |
4.3e-74 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159840
AA Change: I320F
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
AA Change: I320F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
37 |
342 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160884
AA Change: I334F
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
AA Change: I334F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
51 |
356 |
7e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164662
|
| SMART Domains |
Protein: ENSMUSP00000132600
Gene: ENSMUSG00000005045
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
96 |
126 |
N/A |
INTRINSIC |
|
Pfam:CHDNT
|
149 |
203 |
1.9e-32 |
PFAM |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
PHD
|
347 |
390 |
1.09e-14 |
SMART |
|
RING
|
348 |
389 |
4.48e-1 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
PHD
|
420 |
463 |
3.29e-14 |
SMART |
|
RING
|
421 |
462 |
4.15e0 |
SMART |
|
CHROMO
|
468 |
548 |
2.52e-13 |
SMART |
|
CHROMO
|
592 |
649 |
1.34e-8 |
SMART |
|
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
|
DEXDc
|
698 |
910 |
8.34e-33 |
SMART |
|
low complexity region
|
1023 |
1038 |
N/A |
INTRINSIC |
|
HELICc
|
1056 |
1140 |
4.02e-26 |
SMART |
|
DUF1087
|
1260 |
1324 |
2.78e-33 |
SMART |
|
DUF1086
|
1337 |
1496 |
5.11e-105 |
SMART |
|
low complexity region
|
1515 |
1530 |
N/A |
INTRINSIC |
|
low complexity region
|
1648 |
1664 |
N/A |
INTRINSIC |
|
Pfam:CHDCT2
|
1692 |
1864 |
1.7e-99 |
PFAM |
|
low complexity region
|
1885 |
1899 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice show strain-specific changes in survival, body weight, thermoregulation and cold-swim induced tremors, impaired associative learning and memory, sporadic seizures and amygala hyperexcitability. Mice homozygous for a knock-in mutationshow no deficits in associative learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
Het |
|
| Other mutations in Kcnab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Kcnab2
|
APN |
4 |
152,478,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02201:Kcnab2
|
APN |
4 |
152,486,375 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02449:Kcnab2
|
APN |
4 |
152,496,441 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02957:Kcnab2
|
APN |
4 |
152,520,326 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0415:Kcnab2
|
UTSW |
4 |
152,479,593 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0485:Kcnab2
|
UTSW |
4 |
152,479,439 (GRCm39) |
missense |
probably benign |
|
|
R1759:Kcnab2
|
UTSW |
4 |
152,477,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1933:Kcnab2
|
UTSW |
4 |
152,520,323 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3913:Kcnab2
|
UTSW |
4 |
152,479,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4178:Kcnab2
|
UTSW |
4 |
152,489,058 (GRCm39) |
missense |
probably null |
1.00 |
|
R4863:Kcnab2
|
UTSW |
4 |
152,486,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Kcnab2
|
UTSW |
4 |
152,486,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Kcnab2
|
UTSW |
4 |
152,519,287 (GRCm39) |
splice site |
probably null |
|
|
R6519:Kcnab2
|
UTSW |
4 |
152,496,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7753:Kcnab2
|
UTSW |
4 |
152,481,218 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9025:Kcnab2
|
UTSW |
4 |
152,491,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACTCGAAACATTTGTGTC -3'
(R):5'- CATGGGCAAACTCTCCCAGTAC -3'
Sequencing Primer
(F):5'- CTGATTCTGTGAGGACCAGCTC -3'
(R):5'- GTACTACTGAGCGTCCCAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation