Incidental Mutation 'IGL02723:Kcns2'
| ID |
305045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcns2
|
| Ensembl Gene |
ENSMUSG00000050963 |
| Gene Name |
K+ voltage-gated channel, subfamily S, 2 |
| Synonyms |
Kv9.2, E130006J24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
34837501-34843553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34838961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 108
(W108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072868]
[ENSMUST00000228725]
|
| AlphaFold |
O35174 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072868
AA Change: W108L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072645
Gene: ENSMUSG00000050963
AA Change: W108L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
17 |
126 |
3.35e-8 |
SMART |
|
Pfam:Ion_trans
|
186 |
421 |
1.2e-44 |
PFAM |
|
Pfam:Ion_trans_2
|
330 |
415 |
4e-15 |
PFAM |
|
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228725
AA Change: W108L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn9 |
A |
T |
8: 125,335,922 (GRCm39) |
|
probably benign |
Het |
| Cchcr1 |
A |
C |
17: 35,841,699 (GRCm39) |
K761Q |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,516,507 (GRCm38) |
N347S |
probably benign |
Het |
| Csk |
G |
T |
9: 57,538,672 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,118,366 (GRCm39) |
K76E |
probably benign |
Het |
| Dpep1 |
G |
A |
8: 123,920,888 (GRCm39) |
A23T |
possibly damaging |
Het |
| Dpp8 |
T |
A |
9: 64,949,549 (GRCm39) |
M98K |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,323,041 (GRCm39) |
N61K |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,738,626 (GRCm39) |
Y364C |
probably damaging |
Het |
| Gfra1 |
A |
G |
19: 58,441,683 (GRCm39) |
S83P |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,127 (GRCm39) |
E563G |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,015,446 (GRCm39) |
S1009T |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,443,506 (GRCm39) |
R311G |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,456,699 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,388,805 (GRCm39) |
H244R |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,707 (GRCm39) |
K92R |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,500 (GRCm39) |
|
probably benign |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,019,111 (GRCm39) |
I22F |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,171,673 (GRCm39) |
E599G |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,463 (GRCm39) |
S204P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
T |
8: 48,729,938 (GRCm39) |
V1356E |
probably benign |
Het |
| Trpc3 |
T |
A |
3: 36,704,377 (GRCm39) |
I527F |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,059,416 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,205,759 (GRCm39) |
I263L |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,619,893 (GRCm39) |
V1524L |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
| Other mutations in Kcns2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02524:Kcns2
|
APN |
15 |
34,838,981 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0380:Kcns2
|
UTSW |
15 |
34,839,318 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0927:Kcns2
|
UTSW |
15 |
34,839,242 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1673:Kcns2
|
UTSW |
15 |
34,838,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Kcns2
|
UTSW |
15 |
34,839,663 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1829:Kcns2
|
UTSW |
15 |
34,838,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Kcns2
|
UTSW |
15 |
34,839,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Kcns2
|
UTSW |
15 |
34,838,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4983:Kcns2
|
UTSW |
15 |
34,839,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Kcns2
|
UTSW |
15 |
34,839,683 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5195:Kcns2
|
UTSW |
15 |
34,839,677 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5641:Kcns2
|
UTSW |
15 |
34,839,199 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5771:Kcns2
|
UTSW |
15 |
34,839,068 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5788:Kcns2
|
UTSW |
15 |
34,839,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5970:Kcns2
|
UTSW |
15 |
34,839,930 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6032:Kcns2
|
UTSW |
15 |
34,839,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6032:Kcns2
|
UTSW |
15 |
34,839,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6157:Kcns2
|
UTSW |
15 |
34,839,504 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6925:Kcns2
|
UTSW |
15 |
34,840,059 (GRCm39) |
missense |
unknown |
|
|
R7059:Kcns2
|
UTSW |
15 |
34,838,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7378:Kcns2
|
UTSW |
15 |
34,839,849 (GRCm39) |
nonsense |
probably null |
|
|
R7572:Kcns2
|
UTSW |
15 |
34,839,318 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7854:Kcns2
|
UTSW |
15 |
34,839,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Kcns2
|
UTSW |
15 |
34,839,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation