Incidental Mutation 'R1178:Kcnj9'
| ID |
100108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj9
|
| Ensembl Gene |
ENSMUSG00000038026 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 9 |
| Synonyms |
1700085N21Rik, Kir3.3, Girk3 |
| MMRRC Submission |
039250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1178 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172148075-172156889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172150530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 361
(V361A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039506]
[ENSMUST00000062387]
[ENSMUST00000085912]
[ENSMUST00000139528]
[ENSMUST00000194204]
[ENSMUST00000195659]
|
| AlphaFold |
P48543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039506
|
| SMART Domains |
Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IG
|
32 |
147 |
1.38e-6 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
IG
|
169 |
285 |
2.3e-3 |
SMART |
|
IG
|
309 |
433 |
9.49e-5 |
SMART |
|
IG
|
445 |
571 |
3.59e-5 |
SMART |
|
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062387
AA Change: V361A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: V361A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
350 |
3.1e-142 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085912
|
| SMART Domains |
Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
IG
|
32 |
147 |
1.38e-6 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
IG
|
169 |
285 |
2.3e-3 |
SMART |
|
IG
|
309 |
433 |
9.49e-5 |
SMART |
|
IG
|
445 |
571 |
3.59e-5 |
SMART |
|
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139528
|
| SMART Domains |
Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
19 |
84 |
3.66e1 |
SMART |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
IG
|
106 |
222 |
2.3e-3 |
SMART |
|
IG
|
246 |
370 |
9.49e-5 |
SMART |
|
IG
|
382 |
508 |
3.59e-5 |
SMART |
|
transmembrane domain
|
515 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194204
AA Change: V361A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: V361A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
25 |
361 |
7.4e-165 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195659
|
| SMART Domains |
Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
1 |
67 |
2e-42 |
BLAST |
|
SCOP:d1nkr_1
|
6 |
64 |
1e-3 |
SMART |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194505
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus does not result in any overt phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
T |
13: 81,588,156 (GRCm39) |
|
probably benign |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
| Cep128 |
G |
A |
12: 91,226,929 (GRCm39) |
T227M |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,101,193 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Gabrg3 |
C |
T |
7: 56,384,839 (GRCm39) |
V241I |
probably benign |
Het |
| Gfpt2 |
T |
C |
11: 49,714,136 (GRCm39) |
S298P |
probably benign |
Het |
| Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,120,698 (GRCm39) |
L742P |
probably damaging |
Het |
| Hgd |
A |
G |
16: 37,435,756 (GRCm39) |
I115V |
possibly damaging |
Het |
| Hmgcll1 |
A |
T |
9: 76,037,613 (GRCm39) |
D169V |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,799,788 (GRCm39) |
I231K |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,819 (GRCm39) |
I101T |
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,863,152 (GRCm39) |
T567M |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,952,717 (GRCm39) |
D82G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,789,051 (GRCm39) |
E193G |
probably damaging |
Het |
| Or8g50 |
A |
G |
9: 39,648,642 (GRCm39) |
Y177C |
probably damaging |
Het |
| Pfn2 |
C |
T |
3: 57,752,766 (GRCm39) |
V3I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,548,380 (GRCm39) |
T464A |
probably benign |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,760,249 (GRCm39) |
M125T |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 156,989,575 (GRCm39) |
M1015L |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,794,725 (GRCm39) |
Q149L |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,517,123 (GRCm39) |
|
probably benign |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
G |
A |
11: 60,670,358 (GRCm39) |
R502H |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
T |
C |
1: 93,551,111 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,779 (GRCm39) |
N314D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,692,524 (GRCm39) |
C160R |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tll2 |
T |
G |
19: 41,081,286 (GRCm39) |
D712A |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,239,945 (GRCm39) |
R84S |
unknown |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,756,510 (GRCm39) |
K706* |
probably null |
Het |
| Upk2 |
A |
T |
9: 44,365,470 (GRCm39) |
S33T |
probably benign |
Het |
| Usp47 |
T |
G |
7: 111,709,205 (GRCm39) |
M1317R |
possibly damaging |
Het |
| Wdr19 |
T |
C |
5: 65,381,208 (GRCm39) |
Y411H |
probably damaging |
Het |
| Zfp143 |
C |
T |
7: 109,674,928 (GRCm39) |
|
probably benign |
Het |
| Zfp473 |
T |
C |
7: 44,384,018 (GRCm39) |
D105G |
probably benign |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
Het |
|
| Other mutations in Kcnj9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02094:Kcnj9
|
APN |
1 |
172,153,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Kcnj9
|
APN |
1 |
172,153,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0131:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0132:Kcnj9
|
UTSW |
1 |
172,153,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Kcnj9
|
UTSW |
1 |
172,150,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0591:Kcnj9
|
UTSW |
1 |
172,150,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0726:Kcnj9
|
UTSW |
1 |
172,153,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Kcnj9
|
UTSW |
1 |
172,153,929 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1989:Kcnj9
|
UTSW |
1 |
172,153,716 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5165:Kcnj9
|
UTSW |
1 |
172,150,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6245:Kcnj9
|
UTSW |
1 |
172,153,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6344:Kcnj9
|
UTSW |
1 |
172,153,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6903:Kcnj9
|
UTSW |
1 |
172,153,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Kcnj9
|
UTSW |
1 |
172,153,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Kcnj9
|
UTSW |
1 |
172,153,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Kcnj9
|
UTSW |
1 |
172,154,089 (GRCm39) |
missense |
probably benign |
|
|
R8682:Kcnj9
|
UTSW |
1 |
172,153,680 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8896:Kcnj9
|
UTSW |
1 |
172,153,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Kcnj9
|
UTSW |
1 |
172,153,447 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9775:Kcnj9
|
UTSW |
1 |
172,153,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj9
|
UTSW |
1 |
172,150,750 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation