Incidental Mutation 'R5166:Kcnk10'
| ID |
397319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk10
|
| Ensembl Gene |
ENSMUSG00000033854 |
| Gene Name |
potassium channel, subfamily K, member 10 |
| Synonyms |
Trek2, 3010005K24Rik, 1700024D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5166 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98395691-98544472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98401254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 460
(R460W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
|
| AlphaFold |
Q8BUW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110113
AA Change: R460W
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105740
Gene: ENSMUSG00000033854
AA Change: R460W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
55 |
207 |
9.3e-8 |
PFAM |
|
Pfam:Ion_trans_2
|
126 |
204 |
3.3e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
223 |
321 |
8.5e-21 |
PFAM |
|
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221240
AA Change: R474W
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose. [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 |
|---|
| Acad12 |
T |
C |
5: 121,738,083 (GRCm39) |
T435A |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,438 (GRCm39) |
I38N |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,902,523 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,243,041 (GRCm39) |
E1197G |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,105 (GRCm39) |
N517K |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,338,966 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
G |
A |
1: 182,576,564 (GRCm39) |
Q42* |
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh10 |
A |
G |
15: 19,013,446 (GRCm39) |
E682G |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,738,330 (GRCm39) |
R456L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,084 (GRCm39) |
|
probably null |
Het |
| Fstl5 |
A |
C |
3: 76,536,267 (GRCm39) |
K26Q |
possibly damaging |
Het |
| Gk5 |
G |
T |
9: 96,056,821 (GRCm39) |
A413S |
probably damaging |
Het |
| Glcci1 |
T |
A |
6: 8,537,854 (GRCm39) |
S157R |
probably benign |
Het |
| Gzmc |
G |
A |
14: 56,471,433 (GRCm39) |
A36V |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,318,512 (GRCm39) |
N283S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,249,774 (GRCm39) |
E2239G |
possibly damaging |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,544 (GRCm39) |
Y20F |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,439,923 (GRCm39) |
T181A |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,145 (GRCm39) |
A514T |
possibly damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,721 (GRCm39) |
S320T |
unknown |
Het |
| Larp1b |
G |
T |
3: 40,918,487 (GRCm39) |
E24* |
probably null |
Het |
| Mettl22 |
A |
G |
16: 8,296,115 (GRCm39) |
T135A |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,070,581 (GRCm39) |
V378A |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,953,474 (GRCm39) |
H585L |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,278,279 (GRCm39) |
F1024L |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,926,874 (GRCm39) |
H776Q |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,875 (GRCm39) |
D372G |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,526,263 (GRCm39) |
R137* |
probably null |
Het |
| Or9k2 |
T |
C |
10: 129,998,430 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Pm20d2 |
C |
T |
4: 33,181,803 (GRCm39) |
V267I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,627 (GRCm39) |
D76G |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,418,303 (GRCm39) |
T41A |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,031,218 (GRCm39) |
V643A |
possibly damaging |
Het |
| Sbno2 |
C |
A |
10: 79,902,762 (GRCm39) |
E421* |
probably null |
Het |
| Slc17a3 |
T |
C |
13: 24,026,525 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
T |
A |
10: 78,632,103 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,338,220 (GRCm39) |
S106P |
possibly damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,511 (GRCm39) |
N28S |
probably damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,603 (GRCm39) |
T675N |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,500,216 (GRCm39) |
L1114H |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,066,420 (GRCm39) |
V1950A |
probably benign |
Het |
| Tnfsf9 |
T |
A |
17: 57,413,263 (GRCm39) |
F148Y |
possibly damaging |
Het |
| Traf6 |
A |
G |
2: 101,520,402 (GRCm39) |
D150G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,693,717 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,027 (GRCm39) |
Y386C |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,125 (GRCm39) |
E119V |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,842,100 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
A |
G |
6: 47,842,838 (GRCm39) |
I165V |
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,689,781 (GRCm39) |
C142* |
probably null |
Het |
|
| Other mutations in Kcnk10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Kcnk10
|
APN |
12 |
98,484,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01409:Kcnk10
|
APN |
12 |
98,456,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:Kcnk10
|
APN |
12 |
98,485,099 (GRCm39) |
splice site |
probably benign |
|
|
R0467:Kcnk10
|
UTSW |
12 |
98,456,204 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0558:Kcnk10
|
UTSW |
12 |
98,402,560 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0665:Kcnk10
|
UTSW |
12 |
98,406,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1033:Kcnk10
|
UTSW |
12 |
98,484,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1036:Kcnk10
|
UTSW |
12 |
98,462,445 (GRCm39) |
splice site |
probably benign |
|
|
R1398:Kcnk10
|
UTSW |
12 |
98,402,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1482:Kcnk10
|
UTSW |
12 |
98,456,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1675:Kcnk10
|
UTSW |
12 |
98,462,547 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2858:Kcnk10
|
UTSW |
12 |
98,401,548 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2871:Kcnk10
|
UTSW |
12 |
98,401,072 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2871:Kcnk10
|
UTSW |
12 |
98,401,072 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3736:Kcnk10
|
UTSW |
12 |
98,456,171 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3845:Kcnk10
|
UTSW |
12 |
98,407,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4077:Kcnk10
|
UTSW |
12 |
98,401,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4541:Kcnk10
|
UTSW |
12 |
98,402,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Kcnk10
|
UTSW |
12 |
98,456,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Kcnk10
|
UTSW |
12 |
98,401,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4842:Kcnk10
|
UTSW |
12 |
98,401,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Kcnk10
|
UTSW |
12 |
98,401,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4968:Kcnk10
|
UTSW |
12 |
98,401,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4977:Kcnk10
|
UTSW |
12 |
98,406,946 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5108:Kcnk10
|
UTSW |
12 |
98,401,560 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5936:Kcnk10
|
UTSW |
12 |
98,456,191 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6193:Kcnk10
|
UTSW |
12 |
98,407,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7107:Kcnk10
|
UTSW |
12 |
98,485,002 (GRCm39) |
nonsense |
probably null |
|
|
R7611:Kcnk10
|
UTSW |
12 |
98,484,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Kcnk10
|
UTSW |
12 |
98,401,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8225:Kcnk10
|
UTSW |
12 |
98,406,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8270:Kcnk10
|
UTSW |
12 |
98,401,358 (GRCm39) |
missense |
|
|
|
R9040:Kcnk10
|
UTSW |
12 |
98,401,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9094:Kcnk10
|
UTSW |
12 |
98,484,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Kcnk10
|
UTSW |
12 |
98,485,083 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTGTTCTCCAGCCCCTG -3'
(R):5'- GAGAAGCGTTCTGTCTTTGC -3'
Sequencing Primer
(F):5'- CAGCCCCTGGTCTTTGGTG -3'
(R):5'- TTTCAAGGCCTCATCGCAGGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation