Incidental Mutation 'R6724:Kcnb2'
| ID |
529730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnb2
|
| Ensembl Gene |
ENSMUSG00000092083 |
| Gene Name |
potassium voltage gated channel, Shab-related subfamily, member 2 |
| Synonyms |
Kv2.2, 9630047L19Rik |
| MMRRC Submission |
044842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
15357478-15793974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15780664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 512
(Y512C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170146]
[ENSMUST00000175681]
|
| AlphaFold |
A6H8H5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170146
AA Change: Y512C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175681
AA Change: Y512C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Y512C
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
35 |
144 |
2.59e-14 |
SMART |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
192 |
428 |
1.7e-51 |
PFAM |
|
Pfam:Ion_trans_2
|
336 |
422 |
2.5e-13 |
PFAM |
|
Pfam:Kv2channel
|
471 |
755 |
7.7e-149 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (63/64) |
| 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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit neurological abnormalities when compared with controls, including an abnormal sleep/wake cycle, decreased exploratory and locomotor activity, and a motor strength deficit. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
| Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
| Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
| Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,736,817 (GRCm39) |
V319D |
probably damaging |
Het |
| Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
| Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
| Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
| Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
| Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
| Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
| Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
| Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
| Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
| Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
| Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,980,562 (GRCm39) |
R818S |
possibly damaging |
Het |
| Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,281,195 (GRCm39) |
D1015G |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
| Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
| Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
| Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
| Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
| Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
| Vwa3b |
G |
A |
1: 37,084,112 (GRCm39) |
R95Q |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
probably damaging |
Het |
|
| Other mutations in Kcnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Kcnb2
|
APN |
1 |
15,781,236 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01321:Kcnb2
|
APN |
1 |
15,383,147 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01353:Kcnb2
|
APN |
1 |
15,781,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01990:Kcnb2
|
APN |
1 |
15,383,178 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02008:Kcnb2
|
APN |
1 |
15,781,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02120:Kcnb2
|
APN |
1 |
15,780,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02370:Kcnb2
|
APN |
1 |
15,781,159 (GRCm39) |
missense |
probably benign |
|
|
IGL02526:Kcnb2
|
APN |
1 |
15,780,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02859:Kcnb2
|
APN |
1 |
15,780,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Kcnb2
|
APN |
1 |
15,781,435 (GRCm39) |
missense |
probably benign |
|
|
IGL03144:Kcnb2
|
APN |
1 |
15,780,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4131001:Kcnb2
|
UTSW |
1 |
15,383,200 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0266:Kcnb2
|
UTSW |
1 |
15,783,137 (GRCm39) |
unclassified |
probably benign |
|
|
R0538:Kcnb2
|
UTSW |
1 |
15,783,108 (GRCm39) |
unclassified |
probably benign |
|
|
R0611:Kcnb2
|
UTSW |
1 |
15,780,664 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1542:Kcnb2
|
UTSW |
1 |
15,781,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1732:Kcnb2
|
UTSW |
1 |
15,779,979 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1995:Kcnb2
|
UTSW |
1 |
15,779,990 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2166:Kcnb2
|
UTSW |
1 |
15,781,540 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2444:Kcnb2
|
UTSW |
1 |
15,779,791 (GRCm39) |
missense |
probably benign |
|
|
R3025:Kcnb2
|
UTSW |
1 |
15,781,059 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3886:Kcnb2
|
UTSW |
1 |
15,780,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Kcnb2
|
UTSW |
1 |
15,383,186 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5039:Kcnb2
|
UTSW |
1 |
15,779,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Kcnb2
|
UTSW |
1 |
15,781,068 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5444:Kcnb2
|
UTSW |
1 |
15,781,716 (GRCm39) |
missense |
probably benign |
|
|
R5926:Kcnb2
|
UTSW |
1 |
15,383,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Kcnb2
|
UTSW |
1 |
15,780,790 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6371:Kcnb2
|
UTSW |
1 |
15,781,436 (GRCm39) |
missense |
probably benign |
|
|
R6981:Kcnb2
|
UTSW |
1 |
15,780,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Kcnb2
|
UTSW |
1 |
15,383,150 (GRCm39) |
missense |
probably benign |
|
|
R7352:Kcnb2
|
UTSW |
1 |
15,780,835 (GRCm39) |
missense |
probably benign |
|
|
R7419:Kcnb2
|
UTSW |
1 |
15,781,251 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7425:Kcnb2
|
UTSW |
1 |
15,780,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Kcnb2
|
UTSW |
1 |
15,383,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Kcnb2
|
UTSW |
1 |
15,780,837 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7983:Kcnb2
|
UTSW |
1 |
15,383,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8115:Kcnb2
|
UTSW |
1 |
15,781,851 (GRCm39) |
makesense |
probably null |
|
|
R8156:Kcnb2
|
UTSW |
1 |
15,780,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Kcnb2
|
UTSW |
1 |
15,781,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Kcnb2
|
UTSW |
1 |
15,382,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Kcnb2
|
UTSW |
1 |
15,780,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Kcnb2
|
UTSW |
1 |
15,780,648 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9274:Kcnb2
|
UTSW |
1 |
15,781,723 (GRCm39) |
missense |
probably benign |
|
|
R9321:Kcnb2
|
UTSW |
1 |
15,779,793 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9563:Kcnb2
|
UTSW |
1 |
15,779,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Kcnb2
|
UTSW |
1 |
15,781,444 (GRCm39) |
missense |
probably benign |
|
|
R9709:Kcnb2
|
UTSW |
1 |
15,780,523 (GRCm39) |
missense |
probably benign |
0.31 |
|
V7580:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
V7581:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
V7582:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
V7583:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1088:Kcnb2
|
UTSW |
1 |
15,781,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Kcnb2
|
UTSW |
1 |
15,780,315 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Kcnb2
|
UTSW |
1 |
15,781,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGCATCGTTTCTATGAAC -3'
(R):5'- TGTGGGCAGATCACCTCTTC -3'
Sequencing Primer
(F):5'- CGTTTCTATGAACTTAAAGGATGCC -3'
(R):5'- ATCTCCTCCTCATACACACATGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation