Incidental Mutation 'R3800:Kcnj6'
ID |
272944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj6
|
Ensembl Gene |
ENSMUSG00000043301 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 6 |
Synonyms |
GIRK2, Kir3.2, KCNJ7 |
MMRRC Submission |
040759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R3800 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94633886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 75
(T75M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095873]
[ENSMUST00000099508]
[ENSMUST00000165538]
[ENSMUST00000232562]
|
AlphaFold |
no structure available at present |
PDB Structure |
Crystal Structure of the Cytoplasmic Domain of G-Protein-Gated Inward Rectifier Potassium Channel Kir3.2 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095873
AA Change: T75M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093558 Gene: ENSMUSG00000043301 AA Change: T75M
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099508
AA Change: T75M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097108 Gene: ENSMUSG00000043301 AA Change: T75M
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
59 |
382 |
8.5e-146 |
PFAM |
low complexity region
|
396 |
411 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165538
AA Change: T57M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130321 Gene: ENSMUSG00000043301 AA Change: T57M
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
41 |
302 |
5.3e-122 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232403
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232562
AA Change: T57M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
95% (52/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015] PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,385,025 (GRCm39) |
D313E |
possibly damaging |
Het |
Abca12 |
C |
T |
1: 71,305,046 (GRCm39) |
V2070I |
probably damaging |
Het |
Adam23 |
C |
T |
1: 63,590,933 (GRCm39) |
R467* |
probably null |
Het |
Adgrf5 |
T |
C |
17: 43,757,951 (GRCm39) |
|
probably benign |
Het |
Aire |
A |
G |
10: 77,877,889 (GRCm39) |
|
probably null |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,180,031 (GRCm39) |
D268G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,732,633 (GRCm39) |
I351V |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,548,971 (GRCm39) |
R1138Q |
probably benign |
Het |
Caskin1 |
T |
G |
17: 24,720,246 (GRCm39) |
V456G |
probably benign |
Het |
Ccdc96 |
A |
G |
5: 36,643,611 (GRCm39) |
D539G |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,408,803 (GRCm39) |
I2425T |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,392,784 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,903,221 (GRCm39) |
G998* |
probably null |
Het |
Cpe |
A |
G |
8: 65,070,651 (GRCm39) |
V198A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,344,887 (GRCm39) |
M364T |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,141,716 (GRCm39) |
N1396K |
probably benign |
Het |
Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
Eif1ad19 |
T |
C |
12: 87,740,491 (GRCm39) |
K23E |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,035,423 (GRCm39) |
V3025E |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,187,894 (GRCm39) |
D1545V |
possibly damaging |
Het |
Fbxw16 |
T |
G |
9: 109,265,665 (GRCm39) |
I385L |
probably damaging |
Het |
Fnbp1 |
T |
C |
2: 30,923,143 (GRCm39) |
E341G |
probably damaging |
Het |
Gm9845 |
T |
C |
3: 39,412,642 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
T |
C |
3: 63,889,866 (GRCm39) |
Y82H |
possibly damaging |
Het |
Habp4 |
C |
T |
13: 64,321,917 (GRCm39) |
R185C |
probably damaging |
Het |
Ift122 |
T |
A |
6: 115,902,867 (GRCm39) |
S1209T |
probably benign |
Het |
Ino80c |
T |
C |
18: 24,254,752 (GRCm39) |
Y36C |
probably damaging |
Het |
Inpp5b |
C |
T |
4: 124,679,138 (GRCm39) |
T515I |
probably damaging |
Het |
Map2k4 |
A |
T |
11: 65,581,607 (GRCm39) |
Y368* |
probably null |
Het |
Mbd6 |
A |
G |
10: 127,121,036 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
G |
A |
3: 36,054,658 (GRCm39) |
R17W |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Ncoa3 |
T |
C |
2: 165,901,639 (GRCm39) |
M1004T |
possibly damaging |
Het |
Npnt |
C |
A |
3: 132,612,524 (GRCm39) |
G87V |
probably damaging |
Het |
Or10a4 |
C |
T |
7: 106,696,938 (GRCm39) |
Q89* |
probably null |
Het |
Or14j1 |
T |
G |
17: 38,146,848 (GRCm39) |
N319K |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,182,972 (GRCm39) |
D552V |
possibly damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rnf34 |
A |
G |
5: 123,002,273 (GRCm39) |
H77R |
probably damaging |
Het |
Samm50 |
T |
C |
15: 84,076,575 (GRCm39) |
V4A |
probably damaging |
Het |
Sdccag8 |
A |
T |
1: 176,695,904 (GRCm39) |
R403* |
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp6 |
A |
G |
9: 79,994,735 (GRCm39) |
R25G |
possibly damaging |
Het |
Shc2 |
C |
T |
10: 79,462,707 (GRCm39) |
V272I |
probably benign |
Het |
Smarcd3 |
T |
A |
5: 24,798,225 (GRCm39) |
K403* |
probably null |
Het |
Srgap2 |
T |
A |
1: 131,238,297 (GRCm39) |
I672F |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
Ubash3a |
T |
C |
17: 31,450,444 (GRCm39) |
V373A |
probably benign |
Het |
Vav3 |
A |
G |
3: 109,535,355 (GRCm39) |
K36E |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,589,738 (GRCm39) |
V726A |
possibly damaging |
Het |
|
Other mutations in Kcnj6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01309:Kcnj6
|
APN |
16 |
94,633,314 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01433:Kcnj6
|
APN |
16 |
94,633,814 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01603:Kcnj6
|
APN |
16 |
94,634,058 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02212:Kcnj6
|
APN |
16 |
94,633,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Kcnj6
|
APN |
16 |
94,633,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03351:Kcnj6
|
APN |
16 |
94,633,442 (GRCm39) |
missense |
probably damaging |
1.00 |
Seizure
|
UTSW |
16 |
94,633,518 (GRCm39) |
missense |
probably damaging |
1.00 |
H8477:Kcnj6
|
UTSW |
16 |
94,633,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02796:Kcnj6
|
UTSW |
16 |
94,633,778 (GRCm39) |
missense |
probably benign |
0.00 |
R0070:Kcnj6
|
UTSW |
16 |
94,742,056 (GRCm39) |
missense |
probably benign |
|
R1558:Kcnj6
|
UTSW |
16 |
94,563,358 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1676:Kcnj6
|
UTSW |
16 |
94,633,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R2435:Kcnj6
|
UTSW |
16 |
94,563,538 (GRCm39) |
missense |
probably damaging |
0.99 |
R3700:Kcnj6
|
UTSW |
16 |
94,633,865 (GRCm39) |
missense |
probably damaging |
0.96 |
R4012:Kcnj6
|
UTSW |
16 |
94,625,877 (GRCm39) |
splice site |
probably null |
|
R4899:Kcnj6
|
UTSW |
16 |
94,633,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5124:Kcnj6
|
UTSW |
16 |
94,633,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5359:Kcnj6
|
UTSW |
16 |
94,633,312 (GRCm39) |
nonsense |
probably null |
|
R5560:Kcnj6
|
UTSW |
16 |
94,633,824 (GRCm39) |
missense |
probably benign |
0.06 |
R5583:Kcnj6
|
UTSW |
16 |
94,634,060 (GRCm39) |
missense |
probably benign |
0.26 |
R6057:Kcnj6
|
UTSW |
16 |
94,633,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R6330:Kcnj6
|
UTSW |
16 |
94,563,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6582:Kcnj6
|
UTSW |
16 |
94,633,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6604:Kcnj6
|
UTSW |
16 |
94,563,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Kcnj6
|
UTSW |
16 |
94,563,436 (GRCm39) |
missense |
probably benign |
0.06 |
R6866:Kcnj6
|
UTSW |
16 |
94,563,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7304:Kcnj6
|
UTSW |
16 |
94,742,042 (GRCm39) |
missense |
probably benign |
|
R7337:Kcnj6
|
UTSW |
16 |
94,634,073 (GRCm39) |
missense |
probably benign |
0.10 |
R7396:Kcnj6
|
UTSW |
16 |
94,563,306 (GRCm39) |
missense |
probably benign |
0.31 |
R8543:Kcnj6
|
UTSW |
16 |
94,563,250 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9614:Kcnj6
|
UTSW |
16 |
94,633,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGACAAACCCGTTGAGGTTG -3'
(R):5'- CAGCTAACGTCTTGGAAGGC -3'
Sequencing Primer
(F):5'- CAAACCCGTTGAGGTTGGTGAC -3'
(R):5'- CGATTCCATGGACCAGGATGTG -3'
|
Posted On |
2015-03-25 |