Incidental Mutation 'R2415:Kcnk5'
| ID |
248982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnk5
|
| Ensembl Gene |
ENSMUSG00000023243 |
| Gene Name |
potassium channel, subfamily K, member 5 |
| Synonyms |
TASK-2 |
| MMRRC Submission |
040379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2415 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20190125-20231850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20191880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 427
(E427G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024011]
|
| AlphaFold |
Q9JK62 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024011
AA Change: E427G
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: E427G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans_2
|
60 |
138 |
7.1e-20 |
PFAM |
|
Pfam:Ion_trans_2
|
161 |
251 |
2.1e-13 |
PFAM |
|
low complexity region
|
257 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226090
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal and display varying amounts of prenatal lethality depending on genetic background. Otherwise, the mice are viable and fertile. Other targeted mice display aberrations in respiratory physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
| Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
| Fbxw21 |
G |
T |
9: 108,985,469 (GRCm39) |
A103E |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
| Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
| Hdac1 |
A |
C |
4: 129,416,754 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
| Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
| Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
| Pla1a |
T |
A |
16: 38,228,112 (GRCm39) |
Y255F |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Surf6 |
C |
T |
2: 26,782,274 (GRCm39) |
R351H |
probably damaging |
Het |
| Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
probably benign |
Het |
|
| Other mutations in Kcnk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02555:Kcnk5
|
APN |
14 |
20,192,053 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02672:Kcnk5
|
APN |
14 |
20,196,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Kcnk5
|
APN |
14 |
20,231,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03253:Kcnk5
|
APN |
14 |
20,192,405 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1553:Kcnk5
|
UTSW |
14 |
20,192,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Kcnk5
|
UTSW |
14 |
20,191,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1742:Kcnk5
|
UTSW |
14 |
20,191,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2051:Kcnk5
|
UTSW |
14 |
20,192,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Kcnk5
|
UTSW |
14 |
20,194,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6637:Kcnk5
|
UTSW |
14 |
20,194,789 (GRCm39) |
missense |
probably null |
1.00 |
|
R6877:Kcnk5
|
UTSW |
14 |
20,194,784 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7552:Kcnk5
|
UTSW |
14 |
20,192,349 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8948:Kcnk5
|
UTSW |
14 |
20,192,046 (GRCm39) |
missense |
probably benign |
|
|
R8950:Kcnk5
|
UTSW |
14 |
20,192,046 (GRCm39) |
missense |
probably benign |
|
|
R9175:Kcnk5
|
UTSW |
14 |
20,192,117 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9185:Kcnk5
|
UTSW |
14 |
20,195,135 (GRCm39) |
nonsense |
probably null |
|
|
R9437:Kcnk5
|
UTSW |
14 |
20,192,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnk5
|
UTSW |
14 |
20,231,442 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Kcnk5
|
UTSW |
14 |
20,195,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGCTGCTCGTAAGGCAC -3'
(R):5'- CAGCTTGGAAGAGGTATCTCAG -3'
Sequencing Primer
(F):5'- ACGGAGAGCTCTGACTCG -3'
(R):5'- CAAGGGACATGTGTCAAGGCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation