Incidental Mutation 'R5144:Kcnb1'
| ID |
395040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnb1
|
| Ensembl Gene |
ENSMUSG00000050556 |
| Gene Name |
potassium voltage gated channel, Shab-related subfamily, member 1 |
| Synonyms |
Shab, Kcr1-1, Kv2.1 |
| MMRRC Submission |
042728-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166937889-167032075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 166947864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 328
(Y328F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059826]
[ENSMUST00000207917]
|
| AlphaFold |
Q03717 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059826
AA Change: Y328F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057981
Gene: ENSMUSG00000050556
AA Change: Y328F
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
140 |
1.3e-14 |
SMART |
|
low complexity region
|
150 |
162 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
188 |
424 |
2.4e-50 |
PFAM |
|
Pfam:Ion_trans_2
|
332 |
418 |
1.2e-13 |
PFAM |
|
Pfam:Kv2channel
|
467 |
618 |
5.4e-48 |
PFAM |
|
low complexity region
|
698 |
706 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148226
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207917
AA Change: Y328F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5854 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| 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 and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show reduced fasting glucose levels, hyperinsulinemia, improved glucose tolerance, altered glucose-induced electrical activity of pancreatic beta cells, and enhanced insulin secretion. [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 |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,604 (GRCm39) |
|
probably benign |
Het |
| Arpc2 |
A |
T |
1: 74,287,367 (GRCm39) |
K62N |
probably damaging |
Het |
| B4galt5 |
C |
T |
2: 167,148,516 (GRCm39) |
E201K |
possibly damaging |
Het |
| Bub1b |
C |
T |
2: 118,445,980 (GRCm39) |
T334M |
possibly damaging |
Het |
| Ccdc71 |
T |
C |
9: 108,341,051 (GRCm39) |
V288A |
probably benign |
Het |
| Cep350 |
G |
A |
1: 155,786,896 (GRCm39) |
R1444W |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,623 (GRCm39) |
L605P |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,482 (GRCm39) |
I1813F |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,278,434 (GRCm39) |
I821V |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,847 (GRCm39) |
D43G |
probably damaging |
Het |
| Depdc7 |
T |
C |
2: 104,560,598 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,137,666 (GRCm39) |
V216A |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,020,325 (GRCm39) |
N598K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,162,238 (GRCm39) |
T195A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,058,895 (GRCm39) |
V1883A |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,935 (GRCm39) |
D150V |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,337,059 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
G |
11: 62,240,290 (GRCm39) |
S894R |
probably damaging |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,254,650 (GRCm39) |
T194A |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,156 (GRCm39) |
T33S |
probably benign |
Het |
| Or8b53 |
C |
T |
9: 38,667,689 (GRCm39) |
S235L |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,703 (GRCm39) |
R102S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,021 (GRCm39) |
N1332S |
probably benign |
Het |
| Plppr1 |
T |
A |
4: 49,319,800 (GRCm39) |
V142E |
possibly damaging |
Het |
| Prdm6 |
C |
A |
18: 53,598,110 (GRCm39) |
|
probably benign |
Het |
| Prm2 |
T |
A |
16: 10,609,732 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,435,883 (GRCm39) |
S155P |
possibly damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,793 (GRCm39) |
Y481H |
probably benign |
Het |
| Rgs2 |
G |
A |
1: 143,877,437 (GRCm39) |
T206M |
probably benign |
Het |
| Slc2a8 |
C |
T |
2: 32,871,785 (GRCm39) |
R56H |
probably damaging |
Het |
| Spmip11 |
C |
A |
15: 98,483,148 (GRCm39) |
|
probably null |
Het |
| Stk35 |
T |
A |
2: 129,652,855 (GRCm39) |
M452K |
probably damaging |
Het |
| Tcf3 |
G |
A |
10: 80,251,071 (GRCm39) |
H454Y |
probably damaging |
Het |
| Tgm3 |
C |
T |
2: 129,890,202 (GRCm39) |
S655F |
possibly damaging |
Het |
| Tssc4 |
T |
G |
7: 142,623,770 (GRCm39) |
L26R |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,572,695 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
C |
G |
17: 21,534,688 (GRCm39) |
A137G |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vps8 |
T |
C |
16: 21,378,103 (GRCm39) |
L1038P |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,462,660 (GRCm39) |
A290V |
probably damaging |
Het |
| Zdhhc25 |
T |
G |
15: 88,485,259 (GRCm39) |
L198R |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,302,998 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Kcnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Kcnb1
|
APN |
2 |
166,948,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02945:Kcnb1
|
APN |
2 |
167,030,308 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0139:Kcnb1
|
UTSW |
2 |
166,947,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0144:Kcnb1
|
UTSW |
2 |
166,946,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Kcnb1
|
UTSW |
2 |
166,946,889 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0238:Kcnb1
|
UTSW |
2 |
166,946,889 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0848:Kcnb1
|
UTSW |
2 |
166,948,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Kcnb1
|
UTSW |
2 |
166,947,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Kcnb1
|
UTSW |
2 |
166,947,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Kcnb1
|
UTSW |
2 |
166,946,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Kcnb1
|
UTSW |
2 |
166,946,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4254:Kcnb1
|
UTSW |
2 |
166,947,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Kcnb1
|
UTSW |
2 |
166,947,595 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Kcnb1
|
UTSW |
2 |
167,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Kcnb1
|
UTSW |
2 |
166,947,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Kcnb1
|
UTSW |
2 |
166,947,103 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5849:Kcnb1
|
UTSW |
2 |
166,947,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5869:Kcnb1
|
UTSW |
2 |
167,029,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6108:Kcnb1
|
UTSW |
2 |
166,947,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Kcnb1
|
UTSW |
2 |
166,947,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6637:Kcnb1
|
UTSW |
2 |
166,947,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6880:Kcnb1
|
UTSW |
2 |
166,947,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Kcnb1
|
UTSW |
2 |
166,947,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Kcnb1
|
UTSW |
2 |
167,030,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7651:Kcnb1
|
UTSW |
2 |
167,030,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Kcnb1
|
UTSW |
2 |
167,030,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Kcnb1
|
UTSW |
2 |
166,947,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Kcnb1
|
UTSW |
2 |
166,948,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Kcnb1
|
UTSW |
2 |
166,946,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8215:Kcnb1
|
UTSW |
2 |
166,946,361 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8241:Kcnb1
|
UTSW |
2 |
166,948,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8388:Kcnb1
|
UTSW |
2 |
166,947,217 (GRCm39) |
missense |
probably benign |
|
|
R8553:Kcnb1
|
UTSW |
2 |
166,946,531 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9353:Kcnb1
|
UTSW |
2 |
166,947,007 (GRCm39) |
missense |
probably benign |
|
|
R9622:Kcnb1
|
UTSW |
2 |
167,030,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Kcnb1
|
UTSW |
2 |
167,029,981 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1176:Kcnb1
|
UTSW |
2 |
167,030,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGTCTTAGGGTAGATGTCTCC -3'
(R):5'- TGGAAGTTCTTTAAGGGCCCC -3'
Sequencing Primer
(F):5'- TAGGGTAGATGTCTCCGTAACCAAC -3'
(R):5'- AACGCCATTGACTTACTGGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation