Incidental Mutation 'IGL02982:Kcnj6'
ID |
406574 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnj6
|
Ensembl Gene |
ENSMUSG00000043301 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 6 |
Synonyms |
GIRK2, Kir3.2, KCNJ7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL02982
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94633376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 227
(K227R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095873]
[ENSMUST00000099508]
[ENSMUST00000165538]
[ENSMUST00000232562]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095873
AA Change: K245R
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000093558 Gene: ENSMUSG00000043301 AA Change: K245R
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099508
AA Change: K245R
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097108 Gene: ENSMUSG00000043301 AA Change: K245R
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 benign
Transcript: ENSMUST00000165538
AA Change: K227R
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000130321 Gene: ENSMUSG00000043301 AA Change: K227R
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 |
possibly damaging
Transcript: ENSMUST00000232562
AA Change: K227R
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
G |
T |
8: 25,294,447 (GRCm39) |
A384D |
probably benign |
Het |
Adamts19 |
T |
A |
18: 59,157,590 (GRCm39) |
C961S |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,636,159 (GRCm39) |
C565Y |
probably damaging |
Het |
Aox3 |
G |
A |
1: 58,166,846 (GRCm39) |
E190K |
probably benign |
Het |
Arf2 |
T |
G |
11: 103,872,602 (GRCm39) |
D74E |
probably damaging |
Het |
Bptf |
T |
G |
11: 106,967,500 (GRCm39) |
D960A |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Ces1a |
A |
G |
8: 93,771,603 (GRCm39) |
F65L |
probably damaging |
Het |
Def8 |
T |
C |
8: 124,183,278 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 38,944,992 (GRCm39) |
L1295P |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,595 (GRCm39) |
H1061R |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,122,545 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
C |
16: 36,746,172 (GRCm39) |
D2917A |
probably damaging |
Het |
Gpc5 |
G |
A |
14: 115,607,400 (GRCm39) |
C334Y |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,214,871 (GRCm39) |
L252Q |
probably damaging |
Het |
Iars1 |
C |
T |
13: 49,863,185 (GRCm39) |
R546C |
probably benign |
Het |
Kbtbd8 |
G |
T |
6: 95,103,547 (GRCm39) |
V399L |
probably benign |
Het |
Kcnd2 |
A |
T |
6: 21,217,148 (GRCm39) |
D284V |
probably damaging |
Het |
Lhx9 |
A |
T |
1: 138,766,349 (GRCm39) |
H155Q |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,501,922 (GRCm39) |
V221A |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,815,491 (GRCm39) |
K2237* |
probably null |
Het |
Ntf3 |
A |
T |
6: 126,079,340 (GRCm39) |
D55E |
probably damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,865 (GRCm39) |
I84F |
probably benign |
Het |
Or4c15b |
G |
T |
2: 89,113,453 (GRCm39) |
T29K |
probably damaging |
Het |
Plek |
T |
A |
11: 16,931,826 (GRCm39) |
I342F |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,574,182 (GRCm39) |
Y853H |
probably damaging |
Het |
Psg29 |
A |
G |
7: 16,945,632 (GRCm39) |
T401A |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,158,533 (GRCm39) |
T822A |
probably benign |
Het |
Ptprq |
A |
C |
10: 107,422,545 (GRCm39) |
F1616V |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,305,998 (GRCm39) |
V19E |
probably damaging |
Het |
Scamp2 |
G |
A |
9: 57,488,832 (GRCm39) |
A178T |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,817,135 (GRCm39) |
H299R |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,014,854 (GRCm39) |
I445V |
probably benign |
Het |
Tas2r135 |
A |
G |
6: 42,383,187 (GRCm39) |
E242G |
probably benign |
Het |
Ttc22 |
T |
C |
4: 106,495,783 (GRCm39) |
V379A |
probably damaging |
Het |
Unc5d |
C |
T |
8: 29,142,881 (GRCm39) |
G857E |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,929,739 (GRCm39) |
I43V |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,883,649 (GRCm39) |
M152K |
probably benign |
Het |
Wrn |
C |
T |
8: 33,833,094 (GRCm39) |
G133R |
probably damaging |
Het |
Zfyve26 |
G |
A |
12: 79,310,644 (GRCm39) |
T187M |
probably damaging |
Het |
Zic2 |
A |
G |
14: 122,715,979 (GRCm39) |
E367G |
probably 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 |
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 |
R3800:Kcnj6
|
UTSW |
16 |
94,633,886 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |