Incidental Mutation 'R8348:Kcnj15'
ID |
660460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj15
|
Ensembl Gene |
ENSMUSG00000062609 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 15 |
Synonyms |
IRKK, Kir4.2, 4930414N08Rik |
MMRRC Submission |
067732-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8348 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
95058417-95101119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95096609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 77
(Y77C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037154]
[ENSMUST00000113854]
[ENSMUST00000113855]
[ENSMUST00000113856]
[ENSMUST00000113858]
[ENSMUST00000113859]
[ENSMUST00000113861]
[ENSMUST00000113862]
[ENSMUST00000125847]
[ENSMUST00000134166]
[ENSMUST00000138329]
[ENSMUST00000140222]
[ENSMUST00000152516]
|
AlphaFold |
O88932 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037154
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045218 Gene: ENSMUSG00000062609 AA Change: Y77C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
384 |
4.4e-139 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113854
AA Change: Y50C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109485 Gene: ENSMUSG00000062609 AA Change: Y50C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113855
AA Change: Y50C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109486 Gene: ENSMUSG00000062609 AA Change: Y50C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113856
AA Change: Y50C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109487 Gene: ENSMUSG00000062609 AA Change: Y50C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113858
AA Change: Y50C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109489 Gene: ENSMUSG00000062609 AA Change: Y50C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113859
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109490 Gene: ENSMUSG00000062609 AA Change: Y77C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113861
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109492 Gene: ENSMUSG00000062609 AA Change: Y77C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113862
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109493 Gene: ENSMUSG00000062609 AA Change: Y77C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125847
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134166
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118992 Gene: ENSMUSG00000062609 AA Change: Y77C
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
57 |
173 |
8.9e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138329
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152516
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (59/59) |
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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013] PHENOTYPE: Homozygous knockout mice exhibited impaired balance/coordination in a high-throughput screen. [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 |
1600014C10Rik |
A |
G |
7: 37,894,384 (GRCm39) |
Y139C |
possibly damaging |
Het |
A430033K04Rik |
A |
G |
5: 138,634,514 (GRCm39) |
D43G |
probably damaging |
Het |
Actn3 |
C |
A |
19: 4,915,361 (GRCm39) |
V464L |
possibly damaging |
Het |
Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Arhgef28 |
G |
T |
13: 98,190,375 (GRCm39) |
P195T |
possibly damaging |
Het |
Axdnd1 |
A |
T |
1: 156,245,854 (GRCm39) |
D107E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,167,507 (GRCm39) |
V1828M |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,704,593 (GRCm39) |
T440A |
possibly damaging |
Het |
Ctdp1 |
G |
A |
18: 80,493,325 (GRCm39) |
A390V |
probably benign |
Het |
Desi2 |
T |
A |
1: 178,083,906 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,320,273 (GRCm39) |
M3932K |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,955,121 (GRCm39) |
Q2050L |
probably damaging |
Het |
Etnppl |
T |
A |
3: 130,423,141 (GRCm39) |
M274K |
probably benign |
Het |
Farp2 |
G |
T |
1: 93,504,614 (GRCm39) |
|
probably null |
Het |
Fbxo46 |
G |
A |
7: 18,870,469 (GRCm39) |
G363R |
probably damaging |
Het |
Fiz1 |
A |
G |
7: 5,015,909 (GRCm39) |
V27A |
probably benign |
Het |
Fndc3b |
T |
A |
3: 27,494,144 (GRCm39) |
M994L |
probably benign |
Het |
G3bp1 |
T |
G |
11: 55,389,457 (GRCm39) |
D384E |
possibly damaging |
Het |
Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
Gle1 |
T |
C |
2: 29,832,556 (GRCm39) |
Y304H |
possibly damaging |
Het |
Gm3415 |
G |
A |
5: 146,493,407 (GRCm39) |
R84H |
probably benign |
Het |
Gm7694 |
A |
C |
1: 170,129,209 (GRCm39) |
S107A |
possibly damaging |
Het |
Gpc6 |
A |
G |
14: 117,673,232 (GRCm39) |
D163G |
probably damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,251,892 (GRCm39) |
H514Y |
possibly damaging |
Het |
Hdgfl2 |
A |
G |
17: 56,406,370 (GRCm39) |
E595G |
possibly damaging |
Het |
Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
Hoxc4 |
T |
C |
15: 102,943,440 (GRCm39) |
C98R |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,329,878 (GRCm39) |
I4871F |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,292,187 (GRCm39) |
D176G |
probably benign |
Het |
Inafm1 |
A |
G |
7: 16,007,055 (GRCm39) |
I54T |
probably damaging |
Het |
Inpp5b |
G |
A |
4: 124,678,967 (GRCm39) |
G458D |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,054,974 (GRCm39) |
S1153T |
probably damaging |
Het |
Klhl35 |
C |
A |
7: 99,121,062 (GRCm39) |
D10E |
probably damaging |
Het |
Lef1 |
A |
T |
3: 130,906,461 (GRCm39) |
M1L |
probably benign |
Het |
Lima1 |
T |
C |
15: 99,678,753 (GRCm39) |
T403A |
probably benign |
Het |
Magi3 |
T |
A |
3: 103,958,531 (GRCm39) |
N518I |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,836,974 (GRCm39) |
C269R |
probably damaging |
Het |
Mis18a |
A |
T |
16: 90,523,919 (GRCm39) |
L81* |
probably null |
Het |
Mug2 |
A |
T |
6: 122,049,192 (GRCm39) |
K903* |
probably null |
Het |
Nhsl3 |
G |
A |
4: 129,117,699 (GRCm39) |
R322C |
probably damaging |
Het |
Pex6 |
T |
C |
17: 47,034,039 (GRCm39) |
S656P |
probably benign |
Het |
Pgr |
C |
A |
9: 8,922,602 (GRCm39) |
Q591K |
probably benign |
Het |
Phactr3 |
T |
C |
2: 177,897,935 (GRCm39) |
S50P |
probably benign |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Sipa1l1 |
T |
A |
12: 82,443,045 (GRCm39) |
N778K |
probably benign |
Het |
Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
Slc5a7 |
A |
G |
17: 54,583,655 (GRCm39) |
V545A |
possibly damaging |
Het |
Snf8 |
A |
G |
11: 95,925,877 (GRCm39) |
K13R |
probably benign |
Het |
St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
Tacc2 |
A |
C |
7: 130,225,019 (GRCm39) |
K568T |
possibly damaging |
Het |
Tnxb |
C |
A |
17: 34,929,102 (GRCm39) |
T2715K |
possibly damaging |
Het |
Vegfb |
T |
C |
19: 6,962,856 (GRCm39) |
I140V |
probably benign |
Het |
Vmn2r89 |
A |
C |
14: 51,692,548 (GRCm39) |
D117A |
possibly damaging |
Het |
Vps13c |
C |
T |
9: 67,786,385 (GRCm39) |
T284I |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,906,960 (GRCm39) |
|
probably null |
Het |
Wscd2 |
T |
A |
5: 113,710,371 (GRCm39) |
H298Q |
possibly damaging |
Het |
Zfp69 |
A |
T |
4: 120,787,834 (GRCm39) |
C494S |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,949,361 (GRCm39) |
T200A |
possibly damaging |
Het |
|
Other mutations in Kcnj15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00733:Kcnj15
|
APN |
16 |
95,097,322 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03096:Kcnj15
|
APN |
16 |
95,097,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R1117:Kcnj15
|
UTSW |
16 |
95,096,484 (GRCm39) |
missense |
probably benign |
0.28 |
R3911:Kcnj15
|
UTSW |
16 |
95,097,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Kcnj15
|
UTSW |
16 |
95,097,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R3928:Kcnj15
|
UTSW |
16 |
95,097,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4155:Kcnj15
|
UTSW |
16 |
95,097,166 (GRCm39) |
nonsense |
probably null |
|
R4613:Kcnj15
|
UTSW |
16 |
95,096,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Kcnj15
|
UTSW |
16 |
95,097,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Kcnj15
|
UTSW |
16 |
95,096,527 (GRCm39) |
nonsense |
probably null |
|
R6334:Kcnj15
|
UTSW |
16 |
95,097,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6446:Kcnj15
|
UTSW |
16 |
95,097,118 (GRCm39) |
missense |
probably benign |
0.00 |
R6727:Kcnj15
|
UTSW |
16 |
95,097,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R7070:Kcnj15
|
UTSW |
16 |
95,096,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R8937:Kcnj15
|
UTSW |
16 |
95,097,548 (GRCm39) |
unclassified |
probably benign |
|
R9018:Kcnj15
|
UTSW |
16 |
95,097,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R9167:Kcnj15
|
UTSW |
16 |
95,096,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R9171:Kcnj15
|
UTSW |
16 |
95,097,481 (GRCm39) |
missense |
probably benign |
|
R9371:Kcnj15
|
UTSW |
16 |
95,097,556 (GRCm39) |
missense |
unknown |
|
R9760:Kcnj15
|
UTSW |
16 |
95,096,483 (GRCm39) |
missense |
probably benign |
0.13 |
Z1088:Kcnj15
|
UTSW |
16 |
95,096,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGCGGTAGGAGATTAACAC -3'
(R):5'- CCACTTTCATAATGCAGGGTGTG -3'
Sequencing Primer
(F):5'- CATGCGGTAGGAGATTAACACCATAC -3'
(R):5'- CATAATGCAGGGTGTGTGGTTG -3'
|
Posted On |
2021-01-18 |