Incidental Mutation 'R1033:Kcnk10'
ID |
95316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnk10
|
Ensembl Gene |
ENSMUSG00000033854 |
Gene Name |
potassium channel, subfamily K, member 10 |
Synonyms |
Trek2, 3010005K24Rik, 1700024D23Rik |
MMRRC Submission |
039132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R1033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
98395691-98544472 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98484929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110113]
[ENSMUST00000221240]
[ENSMUST00000221305]
|
AlphaFold |
Q8BUW1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110113
AA Change: V55A
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105740 Gene: ENSMUSG00000033854 AA Change: V55A
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: V69A
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221305
AA Change: V72A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221906
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Akap6 |
A |
C |
12: 53,116,005 (GRCm39) |
D1036A |
probably damaging |
Het |
Alg6 |
T |
C |
4: 99,650,270 (GRCm39) |
S497P |
probably benign |
Het |
Arhgap10 |
T |
A |
8: 77,983,976 (GRCm39) |
I700L |
possibly damaging |
Het |
Atp11a |
A |
G |
8: 12,878,555 (GRCm39) |
Y377C |
probably damaging |
Het |
Atp2b2 |
A |
T |
6: 113,770,849 (GRCm39) |
|
probably null |
Het |
Card14 |
T |
A |
11: 119,229,196 (GRCm39) |
V702D |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,454,077 (GRCm39) |
R32* |
probably null |
Het |
Cdh20 |
A |
T |
1: 110,012,783 (GRCm39) |
D372V |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,675,311 (GRCm39) |
I2870N |
probably benign |
Het |
Cped1 |
G |
T |
6: 22,016,950 (GRCm39) |
V100F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,869,679 (GRCm39) |
|
probably null |
Het |
Exoc4 |
G |
A |
6: 33,242,922 (GRCm39) |
G45D |
probably damaging |
Het |
Fam110b |
A |
T |
4: 5,799,440 (GRCm39) |
N286I |
probably benign |
Het |
Fbxo10 |
A |
T |
4: 45,062,236 (GRCm39) |
C97S |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,421,786 (GRCm39) |
H2062L |
probably benign |
Het |
Frk |
T |
C |
10: 34,484,454 (GRCm39) |
C476R |
probably damaging |
Het |
Gm10542 |
A |
G |
18: 44,337,668 (GRCm39) |
T49A |
probably benign |
Het |
Gm128 |
A |
G |
3: 95,147,322 (GRCm39) |
V324A |
possibly damaging |
Het |
Gpr141 |
C |
T |
13: 19,935,880 (GRCm39) |
M298I |
probably benign |
Het |
Gxylt1 |
T |
C |
15: 93,142,958 (GRCm39) |
E369G |
probably benign |
Het |
Hpse2 |
A |
G |
19: 42,901,638 (GRCm39) |
V368A |
probably benign |
Het |
Ice1 |
A |
T |
13: 70,754,713 (GRCm39) |
S458T |
probably damaging |
Het |
Itgb7 |
T |
A |
15: 102,131,989 (GRCm39) |
D198V |
probably damaging |
Het |
Magel2 |
A |
G |
7: 62,029,798 (GRCm39) |
M901V |
unknown |
Het |
Mgam |
A |
T |
6: 40,657,558 (GRCm39) |
Y971F |
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,857,510 (GRCm39) |
D1078V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,158,934 (GRCm39) |
R870H |
probably benign |
Het |
Nek8 |
A |
T |
11: 78,062,111 (GRCm39) |
L71Q |
probably null |
Het |
Nox4 |
T |
A |
7: 87,023,621 (GRCm39) |
D502E |
probably damaging |
Het |
Nsmaf |
G |
A |
4: 6,438,054 (GRCm39) |
P73S |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,204,377 (GRCm39) |
A1421V |
probably benign |
Het |
Nxpe4 |
T |
C |
9: 48,304,533 (GRCm39) |
F207L |
probably damaging |
Het |
Or1p1 |
A |
C |
11: 74,179,492 (GRCm39) |
T7P |
probably damaging |
Het |
Or3a1 |
A |
C |
11: 74,225,462 (GRCm39) |
N198K |
possibly damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
Or5al7 |
A |
G |
2: 85,993,194 (GRCm39) |
I33T |
possibly damaging |
Het |
Pals2 |
T |
C |
6: 50,160,716 (GRCm39) |
Y326H |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,585,815 (GRCm39) |
L2451P |
probably damaging |
Het |
Rad51ap2 |
C |
T |
12: 11,506,252 (GRCm39) |
S58F |
probably damaging |
Het |
Rbbp8 |
A |
G |
18: 11,875,762 (GRCm39) |
R892G |
probably benign |
Het |
Rock1 |
A |
G |
18: 10,067,535 (GRCm39) |
S1333P |
probably benign |
Het |
Rpl7 |
A |
G |
1: 16,172,728 (GRCm39) |
I197T |
probably benign |
Het |
Sar1a |
C |
A |
10: 61,521,395 (GRCm39) |
Q81K |
probably damaging |
Het |
Shank1 |
A |
T |
7: 44,006,220 (GRCm39) |
H1979L |
possibly damaging |
Het |
Slc10a2 |
C |
T |
8: 5,154,889 (GRCm39) |
V99M |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,313,165 (GRCm39) |
Q436* |
probably null |
Het |
Spata31e2 |
G |
A |
1: 26,721,466 (GRCm39) |
P1238L |
probably benign |
Het |
Speer4a2 |
T |
C |
5: 26,294,125 (GRCm39) |
K18E |
probably benign |
Het |
Szt2 |
C |
T |
4: 118,244,303 (GRCm39) |
R1305H |
probably damaging |
Het |
Ubash3a |
G |
A |
17: 31,427,186 (GRCm39) |
G32S |
probably damaging |
Het |
Vmn1r200 |
G |
A |
13: 22,580,060 (GRCm39) |
D279N |
probably damaging |
Het |
Zbtb8a |
T |
C |
4: 129,248,014 (GRCm39) |
D419G |
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 |
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 |
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'- AGCCTAGTCACAGTTCATGGTCCC -3'
(R):5'- GCGGCTGAAGGAAGACATCTGTTC -3'
Sequencing Primer
(F):5'- GTGACGTTTCCAGAAAAGACTTCC -3'
(R):5'- tctcctctcttctctcctcttc -3'
|
Posted On |
2014-01-05 |