Incidental Mutation 'R5165:Kcnj9'
ID |
395629 |
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 |
042746-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5165 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172148075-172156889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 172150724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 296
(D296E)
|
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: D296E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000060110 Gene: ENSMUSG00000038026 AA Change: D296E
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: D296E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141633 Gene: ENSMUSG00000038026 AA Change: D296E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (58/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
Actl6a |
G |
A |
3: 32,774,357 (GRCm39) |
V285I |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,457,190 (GRCm39) |
I646N |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
Foxred2 |
A |
G |
15: 77,840,212 (GRCm39) |
V26A |
probably damaging |
Het |
Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
Nkx6-3 |
T |
A |
8: 23,643,759 (GRCm39) |
H53Q |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
T |
C |
5: 120,696,010 (GRCm39) |
E81G |
probably damaging |
Het |
Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
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 |
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 |
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'- ACCAGTAGAGATGGGCATCG -3'
(R):5'- TCAGTTCAGCCCATTGTCTGG -3'
Sequencing Primer
(F):5'- TAGAGATGGGCATCGAGGCG -3'
(R):5'- CTTAAGGTTAAGCTTCTCAATGGAG -3'
|
Posted On |
2016-06-21 |