Incidental Mutation 'R4541:Kcnk10'
| ID |
333548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk10
|
| Ensembl Gene |
ENSMUSG00000033854 |
| Gene Name |
potassium channel, subfamily K, member 10 |
| Synonyms |
Trek2, 3010005K24Rik, 1700024D23Rik |
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4541 (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 98402536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 301
(I301T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
|
| AlphaFold |
Q8BUW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110113
AA Change: I287T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105740
Gene: ENSMUSG00000033854
AA Change: I287T
| 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 damaging
Transcript: ENSMUST00000221240
AA Change: I301T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5893 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably 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 |
|
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 |
|
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'- AGCCATTGTGCAACCATGTG -3'
(R):5'- AGACTCCAGTTTCTGTTAGGTC -3'
Sequencing Primer
(F):5'- CATTGTGCAACCATGTGCTGAAAAAG -3'
(R):5'- GTTTCCCACAAGCCTAATGGTCTAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation