Incidental Mutation 'R6577:Kcnv2'
| ID |
523574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnv2
|
| Ensembl Gene |
ENSMUSG00000047298 |
| Gene Name |
potassium channel, subfamily V, member 2 |
| Synonyms |
KV11.1 |
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
170.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
27299988-27314579 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27301420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 424
(C424S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056708]
|
| AlphaFold |
Q8CFS6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056708
AA Change: C424S
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000055091
Gene: ENSMUSG00000047298
AA Change: C424S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
79 |
N/A |
INTRINSIC |
|
Pfam:BTB_2
|
107 |
206 |
3.1e-22 |
PFAM |
|
low complexity region
|
225 |
240 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
269 |
521 |
2.2e-39 |
PFAM |
|
Pfam:PKD_channel
|
305 |
516 |
2.5e-7 |
PFAM |
|
Pfam:Ion_trans_2
|
430 |
515 |
2.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.3705 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| 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 member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable, fertile, and phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
Het |
|
| Other mutations in Kcnv2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03157:Kcnv2
|
APN |
19 |
27,301,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Kcnv2
|
UTSW |
19 |
27,300,619 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0319:Kcnv2
|
UTSW |
19 |
27,301,424 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2852:Kcnv2
|
UTSW |
19 |
27,300,496 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4578:Kcnv2
|
UTSW |
19 |
27,300,994 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4702:Kcnv2
|
UTSW |
19 |
27,300,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Kcnv2
|
UTSW |
19 |
27,301,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Kcnv2
|
UTSW |
19 |
27,300,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Kcnv2
|
UTSW |
19 |
27,301,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6974:Kcnv2
|
UTSW |
19 |
27,311,282 (GRCm39) |
missense |
probably benign |
|
|
R7113:Kcnv2
|
UTSW |
19 |
27,301,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Kcnv2
|
UTSW |
19 |
27,311,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Kcnv2
|
UTSW |
19 |
27,300,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Kcnv2
|
UTSW |
19 |
27,300,167 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8528:Kcnv2
|
UTSW |
19 |
27,300,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8854:Kcnv2
|
UTSW |
19 |
27,311,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9584:Kcnv2
|
UTSW |
19 |
27,300,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcnv2
|
UTSW |
19 |
27,300,838 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Kcnv2
|
UTSW |
19 |
27,300,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGGAGCACGTGGAGATG -3'
(R):5'- GAATGCAGAAACCCAAGTGC -3'
Sequencing Primer
(F):5'- TCAACCTAGTGGACCTGGTG -3'
(R):5'- AAGTGCCATGTTACTCACCG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation