Incidental Mutation 'R0591:Kcnj9'
ID |
55954 |
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 |
038781-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0591 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172148075-172156889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 172150665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 316
(E316G)
|
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 damaging
Transcript: ENSMUST00000062387
AA Change: E316G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000060110 Gene: ENSMUSG00000038026 AA Change: E316G
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 damaging
Transcript: ENSMUST00000194204
AA Change: E316G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141633 Gene: ENSMUSG00000038026 AA Change: E316G
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: ENSMUST00000194505
|
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 |
|
Meta Mutation Damage Score |
0.1348 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.7%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,774,704 (GRCm39) |
E1298* |
probably null |
Het |
Aadacl2fm2 |
C |
A |
3: 59,659,550 (GRCm39) |
Y334* |
probably null |
Het |
Adam19 |
T |
C |
11: 46,012,238 (GRCm39) |
|
probably benign |
Het |
Agt |
A |
T |
8: 125,283,678 (GRCm39) |
S480R |
possibly damaging |
Het |
Anapc1 |
G |
T |
2: 128,461,252 (GRCm39) |
D1769E |
probably benign |
Het |
Aox4 |
T |
C |
1: 58,278,261 (GRCm39) |
|
probably benign |
Het |
Apol9b |
G |
A |
15: 77,619,830 (GRCm39) |
V209I |
possibly damaging |
Het |
Appl2 |
A |
T |
10: 83,460,509 (GRCm39) |
I116K |
possibly damaging |
Het |
BC051665 |
A |
G |
13: 60,932,422 (GRCm39) |
|
probably benign |
Het |
Cactin |
G |
T |
10: 81,159,837 (GRCm39) |
E89* |
probably null |
Het |
Carf |
G |
T |
1: 60,165,073 (GRCm39) |
|
probably benign |
Het |
Ccdc167 |
A |
G |
17: 29,924,235 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,885,808 (GRCm39) |
|
probably null |
Het |
Clca4b |
T |
A |
3: 144,621,353 (GRCm39) |
K574* |
probably null |
Het |
Crabp1 |
T |
A |
9: 54,672,887 (GRCm39) |
I64N |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
Dglucy |
T |
C |
12: 100,825,777 (GRCm39) |
|
probably benign |
Het |
Dock10 |
C |
T |
1: 80,518,936 (GRCm39) |
|
probably benign |
Het |
Ednrb |
A |
T |
14: 104,060,710 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
C |
14: 32,279,973 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
C |
5: 110,336,609 (GRCm39) |
Q416P |
probably damaging |
Het |
Gpr12 |
A |
G |
5: 146,520,445 (GRCm39) |
V159A |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,956,884 (GRCm39) |
|
probably benign |
Het |
Helz2 |
A |
G |
2: 180,873,909 (GRCm39) |
I2195T |
probably damaging |
Het |
Hikeshi |
A |
T |
7: 89,569,295 (GRCm39) |
N76K |
possibly damaging |
Het |
Hsd11b1 |
T |
C |
1: 192,911,984 (GRCm39) |
|
probably benign |
Het |
Iftap |
A |
T |
2: 101,406,462 (GRCm39) |
D155E |
probably benign |
Het |
Inhba |
A |
T |
13: 16,201,405 (GRCm39) |
K322N |
probably damaging |
Het |
Katnal1 |
A |
T |
5: 148,829,326 (GRCm39) |
F291L |
probably damaging |
Het |
Lrsam1 |
A |
G |
2: 32,823,935 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
G |
8: 13,068,751 (GRCm39) |
S1075A |
probably benign |
Het |
Mios |
T |
C |
6: 8,215,470 (GRCm39) |
V222A |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,433,827 (GRCm39) |
|
probably benign |
Het |
Nars1 |
A |
T |
18: 64,633,638 (GRCm39) |
I544N |
probably damaging |
Het |
Or5ak23 |
A |
G |
2: 85,245,034 (GRCm39) |
L63P |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,768,387 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,796,932 (GRCm39) |
|
probably benign |
Het |
Pnliprp1 |
A |
G |
19: 58,723,138 (GRCm39) |
D213G |
probably damaging |
Het |
Psap |
A |
G |
10: 60,136,634 (GRCm39) |
N538D |
possibly damaging |
Het |
Ptdss1 |
A |
G |
13: 67,120,714 (GRCm39) |
|
probably benign |
Het |
Rap1b |
G |
A |
10: 117,654,522 (GRCm39) |
|
probably benign |
Het |
Rhcg |
T |
A |
7: 79,244,520 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
A |
7: 28,804,220 (GRCm39) |
T550I |
possibly damaging |
Het |
Samm50 |
G |
A |
15: 84,095,369 (GRCm39) |
G452R |
probably benign |
Het |
Scin |
A |
G |
12: 40,130,929 (GRCm39) |
|
probably null |
Het |
Sesn3 |
T |
C |
9: 14,219,854 (GRCm39) |
L81S |
probably damaging |
Het |
Skint6 |
A |
C |
4: 112,715,366 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
A |
T |
2: 122,527,160 (GRCm39) |
L411H |
probably damaging |
Het |
Slc44a5 |
C |
T |
3: 153,939,782 (GRCm39) |
|
probably benign |
Het |
Slc4a3 |
C |
T |
1: 75,525,665 (GRCm39) |
A255V |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,088,593 (GRCm39) |
N318S |
possibly damaging |
Het |
Tcp11l2 |
A |
T |
10: 84,440,458 (GRCm39) |
H287L |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,849,962 (GRCm39) |
Y605N |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,227,037 (GRCm39) |
N1490K |
probably benign |
Het |
Ube4b |
T |
G |
4: 149,442,034 (GRCm39) |
|
probably benign |
Het |
Usp4 |
G |
A |
9: 108,225,228 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,500 (GRCm39) |
D82V |
probably damaging |
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 |
R0726:Kcnj9
|
UTSW |
1 |
172,153,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Kcnj9
|
UTSW |
1 |
172,150,530 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
PCR Primer
(F):5'- AGTCACACCTTGGACTCACTCTCTG -3'
(R):5'- TGGCACGTTGCACAAAGGACTG -3'
Sequencing Primer
(F):5'- AGGCAGCCATTGTGCTC -3'
(R):5'- GTGTAATCAGTTCAGCCCATTG -3'
|
Posted On |
2013-07-11 |