Incidental Mutation 'R8271:Kcnv1'
| ID |
637740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnv1
|
| Ensembl Gene |
ENSMUSG00000022342 |
| Gene Name |
potassium channel, subfamily V, member 1 |
| Synonyms |
2700023A03Rik |
| MMRRC Submission |
067652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
44969680-44978316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44972754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 376
(D376E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022967]
|
| AlphaFold |
Q8BZN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022967
AA Change: D376E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022967
Gene: ENSMUSG00000022342
AA Change: D376E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
| Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
| Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
| Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
| Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
| Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
| Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
| Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
| Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
| Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
| Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
| Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
| Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
| Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
| Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
| Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
| Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
| Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
| Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
| Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
| Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
|
R5669:Kcnv1
|
UTSW |
15 |
44,977,648 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
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'- GTTTCTTGAGAGCTTCACGC -3'
(R):5'- GCTGAAGAAGAATGCTTATGCCTG -3'
Sequencing Primer
(F):5'- TTGAGTTTCAAGGTGAAGTAGCAAGC -3'
(R):5'- GAATGCTTATGCCTGACAGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation