Incidental Mutation 'R3845:Kcnk10'
ID |
277346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk10
|
Ensembl Gene |
ENSMUSG00000033854 |
Gene Name |
potassium channel, subfamily K, member 10 |
Synonyms |
Trek2, 3010005K24Rik, 1700024D23Rik |
MMRRC Submission |
040893-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R3845 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
98395691-98544472 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98407003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 217
(I217T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
|
AlphaFold |
Q8BUW1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110113
AA Change: I217T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105740 Gene: ENSMUSG00000033854 AA Change: I217T
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 |
probably benign
Transcript: ENSMUST00000221240
AA Change: I231T
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222069
|
Meta Mutation Damage Score |
0.0897 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (45/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
Atp4a |
A |
G |
7: 30,416,540 (GRCm39) |
N439S |
probably null |
Het |
AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
Slc5a4a |
A |
G |
10: 76,024,983 (GRCm39) |
E620G |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
Topbp1 |
T |
C |
9: 103,187,122 (GRCm39) |
V109A |
possibly damaging |
Het |
Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
Trim16 |
T |
G |
11: 62,727,498 (GRCm39) |
|
probably benign |
Het |
Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly damaging |
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 |
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 |
R5166:Kcnk10
|
UTSW |
12 |
98,401,254 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- AAGGGATATCCAGCCGGTTG -3'
(R):5'- CGTATCAGATTTCTACACAGCTGC -3'
Sequencing Primer
(F):5'- CGGTTGTTTTCCCCCAAGAAGG -3'
(R):5'- ACACAGCTGCTTATGACTGG -3'
|
Posted On |
2015-04-06 |