Incidental Mutation 'IGL01309:Kcnj6'
ID |
73567 |
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 # |
IGL01309
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94633314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 266
(Y266H)
|
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: Y266H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093558 Gene: ENSMUSG00000043301 AA Change: Y266H
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099508
AA Change: Y266H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097108 Gene: ENSMUSG00000043301 AA Change: Y266H
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: Y248H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130321 Gene: ENSMUSG00000043301 AA Change: Y248H
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: Y248H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
A |
G |
16: 16,931,410 (GRCm39) |
V275A |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,694,528 (GRCm39) |
D1105G |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,151,352 (GRCm39) |
M195L |
possibly damaging |
Het |
Adrm1 |
A |
G |
2: 179,817,756 (GRCm39) |
|
probably benign |
Het |
Atg13 |
T |
A |
2: 91,509,176 (GRCm39) |
I457F |
possibly damaging |
Het |
BC034090 |
T |
C |
1: 155,102,130 (GRCm39) |
N45D |
probably damaging |
Het |
C3 |
C |
T |
17: 57,516,652 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,249,657 (GRCm39) |
G221D |
probably damaging |
Het |
Calr |
A |
G |
8: 85,573,335 (GRCm39) |
|
probably null |
Het |
Chd3 |
C |
T |
11: 69,248,557 (GRCm39) |
V825I |
probably damaging |
Het |
Chdh |
T |
G |
14: 29,757,761 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,400,529 (GRCm39) |
V627A |
probably damaging |
Het |
Commd3 |
A |
G |
2: 18,677,289 (GRCm39) |
E5G |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,265,773 (GRCm39) |
R199G |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,723,724 (GRCm39) |
|
probably benign |
Het |
Dok7 |
G |
A |
5: 35,236,912 (GRCm39) |
G293D |
possibly damaging |
Het |
Epm2aip1 |
T |
C |
9: 111,102,596 (GRCm39) |
V523A |
probably benign |
Het |
Fam171b |
C |
T |
2: 83,709,791 (GRCm39) |
Q488* |
probably null |
Het |
Gabbr1 |
G |
A |
17: 37,359,499 (GRCm39) |
|
probably null |
Het |
Gm5965 |
T |
G |
16: 88,575,219 (GRCm39) |
S131A |
possibly damaging |
Het |
Gpcpd1 |
T |
C |
2: 132,392,244 (GRCm39) |
D235G |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,767,207 (GRCm39) |
K111* |
probably null |
Het |
Itih4 |
G |
T |
14: 30,613,706 (GRCm39) |
D308Y |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,953,663 (GRCm39) |
L783P |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,888,737 (GRCm39) |
D298G |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,849,423 (GRCm39) |
F712L |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,869,282 (GRCm39) |
|
probably benign |
Het |
Megf11 |
T |
A |
9: 64,588,698 (GRCm39) |
S532R |
probably benign |
Het |
Mkx |
T |
C |
18: 6,937,192 (GRCm39) |
D284G |
probably benign |
Het |
Mmp16 |
A |
G |
4: 18,116,185 (GRCm39) |
I596M |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
Mtmr9 |
A |
G |
14: 63,764,254 (GRCm39) |
L491P |
probably damaging |
Het |
Or4a66 |
T |
G |
2: 88,531,310 (GRCm39) |
Y121S |
probably damaging |
Het |
Or8b52 |
T |
A |
9: 38,576,289 (GRCm39) |
I284L |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,057 (GRCm39) |
M143T |
probably damaging |
Het |
Otor |
T |
C |
2: 142,920,532 (GRCm39) |
V38A |
possibly damaging |
Het |
Pcdhb12 |
G |
T |
18: 37,569,207 (GRCm39) |
D118Y |
probably damaging |
Het |
Prelp |
T |
C |
1: 133,842,545 (GRCm39) |
H200R |
probably benign |
Het |
Prmt5 |
T |
C |
14: 54,747,334 (GRCm39) |
Y481C |
probably damaging |
Het |
Psg23 |
T |
G |
7: 18,348,465 (GRCm39) |
D114A |
probably damaging |
Het |
Ptger4 |
A |
T |
15: 5,272,239 (GRCm39) |
Y127N |
probably damaging |
Het |
Rabgap1l |
C |
A |
1: 160,528,368 (GRCm39) |
V385L |
probably benign |
Het |
Rergl |
T |
A |
6: 139,470,256 (GRCm39) |
K191* |
probably null |
Het |
Sart3 |
A |
G |
5: 113,897,311 (GRCm39) |
F252S |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,519,769 (GRCm39) |
S1169T |
probably benign |
Het |
Serpinb8 |
C |
T |
1: 107,532,448 (GRCm39) |
T180M |
probably damaging |
Het |
Sipa1l1 |
G |
A |
12: 82,434,470 (GRCm39) |
E747K |
probably benign |
Het |
Sptb |
T |
A |
12: 76,634,237 (GRCm39) |
D2158V |
probably benign |
Het |
Sycp2 |
T |
G |
2: 177,999,904 (GRCm39) |
D1024A |
probably benign |
Het |
Tbr1 |
T |
G |
2: 61,636,411 (GRCm39) |
N262K |
possibly damaging |
Het |
Tnrc6a |
A |
T |
7: 122,770,717 (GRCm39) |
I836F |
probably benign |
Het |
Ttn |
T |
C |
2: 76,769,091 (GRCm39) |
E2823G |
probably damaging |
Het |
Uqcrc1 |
T |
A |
9: 108,778,026 (GRCm39) |
L441Q |
possibly damaging |
Het |
Vmn1r180 |
T |
C |
7: 23,652,424 (GRCm39) |
F196L |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,787,997 (GRCm39) |
I451M |
possibly damaging |
Het |
Zcchc7 |
A |
T |
4: 44,926,060 (GRCm39) |
H353L |
probably damaging |
Het |
|
Other mutations in Kcnj6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |