Incidental Mutation 'R2923:Kcnk3'
| ID |
255615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk3
|
| Ensembl Gene |
ENSMUSG00000049265 |
| Gene Name |
potassium channel, subfamily K, member 3 |
| Synonyms |
cTBAK-1, Task-1 |
| MMRRC Submission |
040508-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R2923 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30745514-30782614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30779414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066295]
|
| AlphaFold |
O35111 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066295
AA Change: S155P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098987
Gene: ENSMUSG00000049265
AA Change: S155P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
58 |
134 |
2.9e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
165 |
248 |
1.4e-21 |
PFAM |
|
low complexity region
|
272 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197428
|
| Meta Mutation Damage Score |
0.6454 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (46/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null alleles exhibit decreased pH sensitivitive of action potential in serotonergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,467,518 (GRCm39) |
C368S |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,832,010 (GRCm39) |
Y500C |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,612,079 (GRCm39) |
T418S |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,547 (GRCm39) |
P971S |
possibly damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
| Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,493,473 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
G |
A |
2: 104,085,660 (GRCm39) |
T164I |
possibly damaging |
Het |
| Dhx40 |
T |
G |
11: 86,680,089 (GRCm39) |
Q416P |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,984,373 (GRCm39) |
F1636S |
probably damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
| Gm10604 |
C |
T |
4: 11,980,122 (GRCm39) |
A61T |
unknown |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
| Grm6 |
G |
C |
11: 50,755,348 (GRCm39) |
G827R |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
| Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
| Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
| Ipo9 |
G |
T |
1: 135,327,867 (GRCm39) |
Q515K |
probably benign |
Het |
| Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
| Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
| Pnpla2 |
T |
A |
7: 141,035,380 (GRCm39) |
C61S |
probably benign |
Het |
| Ppp1r16b |
G |
T |
2: 158,598,877 (GRCm39) |
L312F |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
| Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,803,770 (GRCm39) |
S152N |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| St8sia1 |
A |
T |
6: 142,774,963 (GRCm39) |
F205L |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,697,325 (GRCm39) |
Y1988H |
probably damaging |
Het |
| Susd3 |
A |
T |
13: 49,401,945 (GRCm39) |
M1K |
probably null |
Het |
| Syne3 |
A |
T |
12: 104,934,343 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
| Ttll1 |
T |
C |
15: 83,376,760 (GRCm39) |
K321R |
probably damaging |
Het |
| Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,077 (GRCm39) |
I390V |
probably damaging |
Het |
|
| Other mutations in Kcnk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02481:Kcnk3
|
APN |
5 |
30,779,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02719:Kcnk3
|
APN |
5 |
30,779,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Kcnk3
|
UTSW |
5 |
30,779,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Kcnk3
|
UTSW |
5 |
30,745,764 (GRCm39) |
missense |
probably benign |
|
|
R0834:Kcnk3
|
UTSW |
5 |
30,779,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Kcnk3
|
UTSW |
5 |
30,779,321 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2656:Kcnk3
|
UTSW |
5 |
30,780,015 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3740:Kcnk3
|
UTSW |
5 |
30,779,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4584:Kcnk3
|
UTSW |
5 |
30,745,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5010:Kcnk3
|
UTSW |
5 |
30,780,149 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5070:Kcnk3
|
UTSW |
5 |
30,779,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5427:Kcnk3
|
UTSW |
5 |
30,779,639 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5669:Kcnk3
|
UTSW |
5 |
30,779,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5956:Kcnk3
|
UTSW |
5 |
30,745,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Kcnk3
|
UTSW |
5 |
30,780,014 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5986:Kcnk3
|
UTSW |
5 |
30,745,722 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6318:Kcnk3
|
UTSW |
5 |
30,779,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6860:Kcnk3
|
UTSW |
5 |
30,779,397 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6919:Kcnk3
|
UTSW |
5 |
30,779,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7350:Kcnk3
|
UTSW |
5 |
30,779,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Kcnk3
|
UTSW |
5 |
30,779,675 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7502:Kcnk3
|
UTSW |
5 |
30,780,062 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7922:Kcnk3
|
UTSW |
5 |
30,745,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Kcnk3
|
UTSW |
5 |
30,779,580 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8953:Kcnk3
|
UTSW |
5 |
30,779,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Kcnk3
|
UTSW |
5 |
30,745,532 (GRCm39) |
start gained |
probably benign |
|
|
R9570:Kcnk3
|
UTSW |
5 |
30,779,433 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Kcnk3
|
UTSW |
5 |
30,780,048 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Kcnk3
|
UTSW |
5 |
30,779,837 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Kcnk3
|
UTSW |
5 |
30,745,618 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTACAGGCTATGGTCATGC -3'
(R):5'- GAAGCTGAAGGCCACATACTG -3'
Sequencing Primer
(F):5'- TATGGTCATGCGGCGCC -3'
(R):5'- AGGCCACATACTGCGGCTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation