Incidental Mutation 'R7990:Kcnk2'
| ID |
651664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk2
|
| Ensembl Gene |
ENSMUSG00000037624 |
| Gene Name |
potassium channel, subfamily K, member 2 |
| Synonyms |
TREK-1 |
| MMRRC Submission |
046031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
188940127-189134470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 188942102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 389
(L389R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079451]
[ENSMUST00000110920]
[ENSMUST00000180044]
[ENSMUST00000192723]
[ENSMUST00000193319]
[ENSMUST00000194172]
[ENSMUST00000194402]
|
| AlphaFold |
P97438 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079451
AA Change: L377R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: L377R
| 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 damaging
Transcript: ENSMUST00000110920
AA Change: L374R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: L374R
| 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 |
probably damaging
Transcript: ENSMUST00000192723
AA Change: L374R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: L374R
| 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: L389R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: L389R
| 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 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194402
AA Change: L385R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: L385R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,970,549 (GRCm39) |
V28I |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,651,162 (GRCm39) |
|
probably null |
Het |
| Alg2 |
T |
C |
4: 47,472,308 (GRCm39) |
T167A |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,044,586 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,024,079 (GRCm39) |
C1730* |
probably null |
Het |
| Atp8b1 |
T |
C |
18: 64,671,748 (GRCm39) |
T1092A |
possibly damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,672 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,934,244 (GRCm39) |
V211A |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,854,314 (GRCm39) |
S436P |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,547 (GRCm39) |
E268G |
probably damaging |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,709,577 (GRCm39) |
K2480T |
unknown |
Het |
| Cryba1 |
T |
C |
11: 77,614,411 (GRCm39) |
T21A |
possibly damaging |
Het |
| Csn1s1 |
C |
T |
5: 87,827,912 (GRCm39) |
A259V |
possibly damaging |
Het |
| Dap3 |
A |
C |
3: 88,835,814 (GRCm39) |
Y206* |
probably null |
Het |
| Etnppl |
T |
C |
3: 130,424,308 (GRCm39) |
I360T |
possibly damaging |
Het |
| Gal3st3 |
A |
T |
19: 5,352,617 (GRCm39) |
M15L |
probably benign |
Het |
| Gdf5 |
A |
G |
2: 155,783,749 (GRCm39) |
V401A |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,792,137 (GRCm39) |
S628P |
possibly damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,397 (GRCm39) |
I98F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,040 (GRCm39) |
K1016E |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,452 (GRCm39) |
N850D |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,685,629 (GRCm39) |
L466I |
unknown |
Het |
| Jkampl |
T |
C |
6: 73,446,528 (GRCm39) |
Y7C |
probably damaging |
Het |
| Kcnj16 |
C |
A |
11: 110,915,886 (GRCm39) |
R183S |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,309,685 (GRCm39) |
K949N |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,159,383 (GRCm39) |
E395K |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,892,696 (GRCm39) |
M853K |
probably benign |
Het |
| Metap1 |
T |
G |
3: 138,186,526 (GRCm39) |
T68P |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,750,323 (GRCm39) |
V114A |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,475 (GRCm39) |
R1566H |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,529 (GRCm39) |
M233K |
probably damaging |
Het |
| Ncor1 |
T |
G |
11: 62,240,321 (GRCm39) |
|
probably null |
Het |
| Npl |
A |
T |
1: 153,413,230 (GRCm39) |
V29D |
possibly damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,497 (GRCm39) |
V219I |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,881,948 (GRCm39) |
I65M |
possibly damaging |
Het |
| Rabepk |
C |
T |
2: 34,670,720 (GRCm39) |
V247I |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,327 (GRCm39) |
P804S |
unknown |
Het |
| Rpgrip1 |
A |
T |
14: 52,366,975 (GRCm39) |
Y265F |
possibly damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,000,554 (GRCm39) |
D315G |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,213,246 (GRCm39) |
N555K |
probably benign |
Het |
| Spata17 |
T |
A |
1: 186,872,592 (GRCm39) |
H26L |
unknown |
Het |
| Sphkap |
C |
T |
1: 83,245,066 (GRCm39) |
D1518N |
probably damaging |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Tmx2 |
A |
G |
2: 84,506,480 (GRCm39) |
F71L |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,274,996 (GRCm39) |
L1823Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,983 (GRCm39) |
D612E |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,819,752 (GRCm39) |
L1484Q |
|
Het |
| Zan |
A |
G |
5: 137,391,352 (GRCm39) |
S4711P |
unknown |
Het |
| Zdhhc1 |
A |
G |
8: 106,203,001 (GRCm39) |
|
probably null |
Het |
| Zfp971 |
C |
T |
2: 177,675,361 (GRCm39) |
T320I |
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 |
|
|
R6140:Kcnk2
|
UTSW |
1 |
188,942,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
2020-09-15 |
Incidental Mutation