Incidental Mutation 'IGL03351:Kcnj6'
| ID |
419703 |
| 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 # |
IGL03351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94633442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 205
(M205K)
|
| 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 damaging
Transcript: ENSMUST00000095873
AA Change: M223K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: M223K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099508
AA Change: M223K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: M223K
| 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: M205K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: M205K
| 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: M205K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,561,427 (GRCm39) |
D251E |
probably benign |
Het |
| 5730460C07Rik |
C |
T |
3: 153,495,595 (GRCm39) |
|
noncoding transcript |
Het |
| Coch |
G |
A |
12: 51,649,989 (GRCm39) |
R326Q |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,270,126 (GRCm39) |
V366A |
probably benign |
Het |
| Csf1r |
C |
T |
18: 61,250,180 (GRCm39) |
Q382* |
probably null |
Het |
| Csta1 |
C |
A |
16: 35,951,411 (GRCm39) |
G4* |
probably null |
Het |
| Cts7 |
T |
C |
13: 61,504,417 (GRCm39) |
R49G |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,220,522 (GRCm39) |
V575A |
probably benign |
Het |
| Ero1a |
G |
T |
14: 45,531,990 (GRCm39) |
N227K |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,094,734 (GRCm39) |
C58* |
probably null |
Het |
| Hfm1 |
G |
A |
5: 107,059,441 (GRCm39) |
Q194* |
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,319 (GRCm39) |
Y285N |
probably damaging |
Het |
| Hyal6 |
G |
A |
6: 24,743,428 (GRCm39) |
G375R |
probably damaging |
Het |
| Itgb5 |
T |
C |
16: 33,730,922 (GRCm39) |
S93P |
probably benign |
Het |
| Kdm6a |
C |
T |
X: 18,113,343 (GRCm39) |
Q92* |
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,186,726 (GRCm39) |
M1T |
probably null |
Het |
| Krtap7-1 |
T |
C |
16: 89,304,884 (GRCm39) |
|
probably benign |
Het |
| L1cam |
T |
C |
X: 72,906,634 (GRCm39) |
T270A |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,598,015 (GRCm39) |
N45S |
probably benign |
Het |
| Magea13 |
G |
A |
X: 57,964,297 (GRCm39) |
V19I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,565,970 (GRCm39) |
I424V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,194,739 (GRCm39) |
Q1650R |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,275,483 (GRCm39) |
E313V |
possibly damaging |
Het |
| Nipsnap3a |
A |
G |
4: 52,994,134 (GRCm39) |
T74A |
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,640,652 (GRCm39) |
M368I |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,466,224 (GRCm39) |
T445A |
probably benign |
Het |
| Or14a256 |
A |
G |
7: 86,264,885 (GRCm39) |
Y323H |
possibly damaging |
Het |
| Or52r1b |
A |
G |
7: 102,691,337 (GRCm39) |
D212G |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,606 (GRCm39) |
T73A |
probably benign |
Het |
| Pole |
A |
G |
5: 110,449,864 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,088,391 (GRCm39) |
G644D |
probably benign |
Het |
| Pramel23 |
G |
A |
4: 143,423,658 (GRCm39) |
T377I |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,487 (GRCm39) |
Y1161H |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,744,943 (GRCm39) |
K264N |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,020,311 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,172 (GRCm39) |
I376N |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,051,811 (GRCm39) |
I2062M |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,363,531 (GRCm39) |
D99G |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,401 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,451,154 (GRCm39) |
Y309H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,024,595 (GRCm39) |
D1178G |
probably damaging |
Het |
| Trav5-1 |
G |
A |
14: 52,860,302 (GRCm39) |
E36K |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,535,099 (GRCm39) |
V274A |
probably benign |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,735 (GRCm39) |
S152C |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,235,199 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
G |
13: 65,443,967 (GRCm39) |
L370R |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,173 (GRCm39) |
Y234C |
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 |
|
IGL02982:Kcnj6
|
APN |
16 |
94,633,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
Incidental Mutation