Incidental Mutation 'R5583:Kcnj6'
| ID |
438592 |
| 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 |
043137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94634060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| 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 benign
Transcript: ENSMUST00000095873
AA Change: D17G
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: D17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099508
AA Change: D17G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: D17G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
| 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 benign
Transcript: ENSMUST00000232562
|
| Meta Mutation Damage Score |
0.0618 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,083 (GRCm39) |
L8Q |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,942,550 (GRCm39) |
V1681A |
probably damaging |
Het |
| Abce1 |
G |
T |
8: 80,416,922 (GRCm39) |
A363E |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,800 (GRCm39) |
Y256C |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,695,740 (GRCm39) |
C416R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,984,281 (GRCm39) |
V1855D |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
| Ankrd35 |
G |
T |
3: 96,592,219 (GRCm39) |
R835L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,615,414 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,394,436 (GRCm39) |
Y24N |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,473 (GRCm39) |
N323K |
probably damaging |
Het |
| Cops9 |
A |
T |
1: 92,567,489 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,506 (GRCm39) |
T561A |
probably benign |
Het |
| Dcdc5 |
T |
C |
2: 106,195,778 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7b |
G |
T |
1: 46,281,359 (GRCm39) |
A2807S |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,368 (GRCm39) |
T196A |
possibly damaging |
Het |
| Fam217a |
C |
A |
13: 35,094,280 (GRCm39) |
C402F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,715 (GRCm39) |
V4053E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,004 (GRCm39) |
V755A |
probably damaging |
Het |
| Fxr1 |
C |
A |
3: 34,123,125 (GRCm39) |
S641R |
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,976,047 (GRCm39) |
M39K |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,278 (GRCm39) |
D1658E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,400,110 (GRCm39) |
T426M |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Helq |
T |
C |
5: 100,910,459 (GRCm39) |
E1039G |
probably damaging |
Het |
| Hibch |
T |
A |
1: 52,940,406 (GRCm39) |
Y192N |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,949,426 (GRCm39) |
I41M |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,101 (GRCm39) |
P486Q |
probably benign |
Het |
| Kprp |
T |
A |
3: 92,731,643 (GRCm39) |
Y469F |
unknown |
Het |
| Kremen2 |
T |
C |
17: 23,961,229 (GRCm39) |
T373A |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,760,562 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,409 (GRCm39) |
D176G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,424,332 (GRCm39) |
S785G |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,598,325 (GRCm39) |
Q920L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,196 (GRCm39) |
E1362G |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,272 (GRCm39) |
S8P |
probably damaging |
Het |
| Or2h1b |
T |
C |
17: 37,462,485 (GRCm39) |
Q126R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,654,892 (GRCm39) |
R888Q |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,994,271 (GRCm39) |
H494R |
probably damaging |
Het |
| Pira2 |
A |
G |
7: 3,845,545 (GRCm39) |
F280L |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,977,145 (GRCm39) |
W108* |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,879,920 (GRCm39) |
S113P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,404,842 (GRCm39) |
L42P |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,739 (GRCm39) |
C710Y |
probably damaging |
Het |
| Skint1 |
A |
C |
4: 111,876,253 (GRCm39) |
Q58P |
probably damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,590 (GRCm39) |
N438I |
probably damaging |
Het |
| Spdya |
C |
A |
17: 71,876,126 (GRCm39) |
D164E |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,782 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
T |
5: 135,999,050 (GRCm39) |
L51H |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,579 (GRCm39) |
I123T |
possibly damaging |
Het |
| Styx |
T |
A |
14: 45,608,483 (GRCm39) |
F147I |
possibly damaging |
Het |
| Suv39h2 |
T |
A |
2: 3,475,890 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,373,446 (GRCm39) |
V84A |
probably benign |
Het |
| Tlcd1 |
T |
G |
11: 78,069,762 (GRCm39) |
V25G |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,870 (GRCm39) |
Y280C |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,208,027 (GRCm39) |
D194E |
probably damaging |
Het |
| Zfp2 |
T |
C |
11: 50,790,984 (GRCm39) |
E353G |
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 |
|
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 |
|
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'- TGAATCTCCACTTCAGGTCCAC -3'
(R):5'- AGATTGGCTCTGTTCACCTAG -3'
Sequencing Primer
(F):5'- AAGATGTCCGTCAGGTATCGGTAC -3'
(R):5'- GGCTCTGTTCACCTAGTTCATCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation