Incidental Mutation 'R5669:Kcnv1'
| ID |
442537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnv1
|
| Ensembl Gene |
ENSMUSG00000022342 |
| Gene Name |
potassium channel, subfamily V, member 1 |
| Synonyms |
2700023A03Rik |
| MMRRC Submission |
043312-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5669 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
44969680-44978316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44977648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 130
(Q130R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022967]
|
| AlphaFold |
Q8BZN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022967
AA Change: Q130R
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: Q130R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
BTB
|
42 |
160 |
1.17e-12 |
SMART |
|
Pfam:Ion_trans
|
212 |
440 |
8.9e-45 |
PFAM |
|
Pfam:Ion_trans_2
|
350 |
436 |
3.9e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228536
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
PHENOTYPE: At weaning, homozygous mutant mice exhibit tetany, tremors and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
| Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
| Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
| Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
| Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,578 (GRCm39) |
I314N |
probably benign |
Het |
| Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,351 (GRCm39) |
C498S |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
| Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
| Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
| Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
| Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
| Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
| Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
| Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
| Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,424,646 (GRCm39) |
A556T |
probably benign |
Het |
| Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
| Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
| Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
| Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
probably benign |
Het |
|
| Other mutations in Kcnv1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Kcnv1
|
APN |
15 |
44,976,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02227:Kcnv1
|
APN |
15 |
44,977,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Kcnv1
|
APN |
15 |
44,972,519 (GRCm39) |
nonsense |
probably null |
|
|
IGL03239:Kcnv1
|
APN |
15 |
44,972,886 (GRCm39) |
splice site |
probably benign |
|
|
R0079:Kcnv1
|
UTSW |
15 |
44,976,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Kcnv1
|
UTSW |
15 |
44,972,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0627:Kcnv1
|
UTSW |
15 |
44,976,277 (GRCm39) |
splice site |
probably benign |
|
|
R1614:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2942:Kcnv1
|
UTSW |
15 |
44,972,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4244:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4335:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4354:Kcnv1
|
UTSW |
15 |
44,977,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Kcnv1
|
UTSW |
15 |
44,972,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Kcnv1
|
UTSW |
15 |
44,976,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Kcnv1
|
UTSW |
15 |
44,977,987 (GRCm39) |
missense |
unknown |
|
|
R5631:Kcnv1
|
UTSW |
15 |
44,972,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Kcnv1
|
UTSW |
15 |
44,972,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5776:Kcnv1
|
UTSW |
15 |
44,977,963 (GRCm39) |
missense |
unknown |
|
|
R5787:Kcnv1
|
UTSW |
15 |
44,977,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Kcnv1
|
UTSW |
15 |
44,972,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6819:Kcnv1
|
UTSW |
15 |
44,972,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6851:Kcnv1
|
UTSW |
15 |
44,972,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Kcnv1
|
UTSW |
15 |
44,977,997 (GRCm39) |
missense |
unknown |
|
|
R7254:Kcnv1
|
UTSW |
15 |
44,976,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7258:Kcnv1
|
UTSW |
15 |
44,972,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7272:Kcnv1
|
UTSW |
15 |
44,976,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7367:Kcnv1
|
UTSW |
15 |
44,972,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Kcnv1
|
UTSW |
15 |
44,972,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Kcnv1
|
UTSW |
15 |
44,972,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Kcnv1
|
UTSW |
15 |
44,977,999 (GRCm39) |
missense |
unknown |
|
|
R8727:Kcnv1
|
UTSW |
15 |
44,977,999 (GRCm39) |
missense |
unknown |
|
|
R8730:Kcnv1
|
UTSW |
15 |
44,972,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8754:Kcnv1
|
UTSW |
15 |
44,977,865 (GRCm39) |
nonsense |
probably null |
|
|
R9162:Kcnv1
|
UTSW |
15 |
44,972,450 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9686:Kcnv1
|
UTSW |
15 |
44,972,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9796:Kcnv1
|
UTSW |
15 |
44,977,987 (GRCm39) |
missense |
unknown |
|
|
X0026:Kcnv1
|
UTSW |
15 |
44,972,863 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Kcnv1
|
UTSW |
15 |
44,977,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTACCTTCAGCCAAGACGC -3'
(R):5'- AGCAAGCTCTGTCCTGCTTC -3'
Sequencing Primer
(F):5'- CCTATTCGCAGAGCTGGAGTAGAC -3'
(R):5'- CAAACTGGCCGTAGTGGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation