Incidental Mutation 'R6140:Kcnk2'
ID |
488517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk2
|
Ensembl Gene |
ENSMUSG00000037624 |
Gene Name |
potassium channel, subfamily K, member 2 |
Synonyms |
TREK-1 |
MMRRC Submission |
044287-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R6140 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
188940127-189134470 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 188942104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 384
(H384Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079451]
[ENSMUST00000110920]
[ENSMUST00000180044]
[ENSMUST00000192723]
[ENSMUST00000193319]
[ENSMUST00000194402]
[ENSMUST00000194172]
|
AlphaFold |
P97438 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079451
AA Change: H376Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078416 Gene: ENSMUSG00000037624 AA Change: H376Q
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
117 |
197 |
2e-20 |
PFAM |
low complexity region
|
221 |
230 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
233 |
313 |
6.8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110920
AA Change: H373Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106545 Gene: ENSMUSG00000037624 AA Change: H373Q
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
102 |
183 |
2.4e-21 |
PFAM |
Pfam:Ion_trans_2
|
211 |
298 |
3.7e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180044
|
SMART Domains |
Protein: ENSMUSP00000136513 Gene: ENSMUSG00000037624
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
102 |
183 |
2.4e-21 |
PFAM |
Pfam:Ion_trans_2
|
211 |
298 |
3.7e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192529
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192723
AA Change: H373Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141849 Gene: ENSMUSG00000037624 AA Change: H373Q
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
102 |
183 |
2.4e-21 |
PFAM |
Pfam:Ion_trans_2
|
211 |
298 |
3.7e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193319
AA Change: H388Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141891 Gene: ENSMUSG00000037624 AA Change: H388Q
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans_2
|
117 |
198 |
2.5e-21 |
PFAM |
Pfam:Ion_trans_2
|
226 |
313 |
3.7e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194402
AA Change: H384Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142026 Gene: ENSMUSG00000037624 AA Change: H384Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
57 |
76 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
113 |
194 |
1.4e-19 |
PFAM |
Pfam:Ion_trans_2
|
222 |
309 |
2.2e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194444
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193686
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194172
|
SMART Domains |
Protein: ENSMUSP00000142176 Gene: ENSMUSG00000037624
Domain | Start | End | E-Value | Type |
transmembrane domain
|
57 |
76 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
113 |
194 |
5e-20 |
PFAM |
low complexity region
|
216 |
231 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0669 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
Validation Efficiency |
100% (46/46) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display increased sensitivity to pharmacologically induced seizures and ischemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
Het |
|
Other mutations in Kcnk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00955:Kcnk2
|
APN |
1 |
188,975,211 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01100:Kcnk2
|
APN |
1 |
189,072,133 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01872:Kcnk2
|
APN |
1 |
188,988,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01929:Kcnk2
|
APN |
1 |
189,072,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02643:Kcnk2
|
APN |
1 |
188,990,976 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03056:Kcnk2
|
APN |
1 |
189,027,908 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL03340:Kcnk2
|
APN |
1 |
189,027,878 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0041:Kcnk2
|
UTSW |
1 |
189,027,888 (GRCm39) |
missense |
probably benign |
0.44 |
R0041:Kcnk2
|
UTSW |
1 |
189,027,888 (GRCm39) |
missense |
probably benign |
0.44 |
R0279:Kcnk2
|
UTSW |
1 |
188,942,169 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0569:Kcnk2
|
UTSW |
1 |
189,071,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Kcnk2
|
UTSW |
1 |
188,988,927 (GRCm39) |
splice site |
probably null |
|
R1070:Kcnk2
|
UTSW |
1 |
188,988,960 (GRCm39) |
splice site |
probably benign |
|
R1449:Kcnk2
|
UTSW |
1 |
189,072,223 (GRCm39) |
missense |
probably benign |
0.31 |
R2401:Kcnk2
|
UTSW |
1 |
189,072,214 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4418:Kcnk2
|
UTSW |
1 |
188,988,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Kcnk2
|
UTSW |
1 |
189,072,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5782:Kcnk2
|
UTSW |
1 |
188,988,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R5845:Kcnk2
|
UTSW |
1 |
189,009,918 (GRCm39) |
intron |
probably benign |
|
R6240:Kcnk2
|
UTSW |
1 |
188,975,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6881:Kcnk2
|
UTSW |
1 |
188,942,187 (GRCm39) |
missense |
probably benign |
0.00 |
R7990:Kcnk2
|
UTSW |
1 |
188,942,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R8046:Kcnk2
|
UTSW |
1 |
188,990,933 (GRCm39) |
critical splice donor site |
probably null |
|
R8322:Kcnk2
|
UTSW |
1 |
189,072,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9099:Kcnk2
|
UTSW |
1 |
188,991,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9482:Kcnk2
|
UTSW |
1 |
188,988,891 (GRCm39) |
frame shift |
probably null |
|
R9484:Kcnk2
|
UTSW |
1 |
188,988,891 (GRCm39) |
frame shift |
probably null |
|
R9576:Kcnk2
|
UTSW |
1 |
188,988,891 (GRCm39) |
frame shift |
probably null |
|
R9577:Kcnk2
|
UTSW |
1 |
188,988,891 (GRCm39) |
frame shift |
probably null |
|
R9578:Kcnk2
|
UTSW |
1 |
188,988,891 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCCTAGAGAAGCCCTTC -3'
(R):5'- AGCTCCCATGTTGATAGCTTC -3'
Sequencing Primer
(F):5'- TAGAGAAGCCCTTCCCTATGG -3'
(R):5'- AGAGTTCAGAGCGCATGCC -3'
|
Posted On |
2017-10-10 |