Mutagenetix > Incidental Mutation

Incidental Mutation 'R1436:Kcna5'

160640

Institutional Source

Beutler Lab

Gene Symbol

Kcna5

Ensembl Gene

ENSMUSG00000045534

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 5

Synonyms

Kv1.5

MMRRC Submission

039491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126509514-126512375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126511724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 135 (T135S)

Ref Sequence

ENSEMBL: ENSMUSP00000055673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060972]

AlphaFold

Q61762

Predicted Effect

probably damaging
Transcript: ENSMUST00000060972
AA Change: T135S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: T135S

Domain	Start	End	E-Value	Type
low complexity region	65	80	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
BTB	111	211	5e-7	SMART
Pfam:Ion_trans	240	516	6.6e-54	PFAM
Pfam:Ion_trans_2	424	509	1.4e-15	PFAM

Meta Mutation Damage Score

0.7854

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal microglial proliferation and nitric oxide release after LPS treatment or facial nerve lesion. Mice homozygous for a knock-in allele exhibit impaired hypoxic pulmonary vasoconstriction, and resistance to drug-induced cardiac QT prolongation. [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
A2m	T	C	6: 121,621,172 (GRCm39)	F292S	probably benign	Het
Aadacl2fm3	A	T	3: 59,772,760 (GRCm39)	D88V	probably damaging	Het
Abca13	T	C	11: 9,242,646 (GRCm39)	V1503A	probably damaging	Het
AI661453	C	T	17: 47,777,627 (GRCm39)		probably benign	Het
Ano2	T	C	6: 125,844,134 (GRCm39)		probably null	Het
Areg	G	T	5: 91,287,664 (GRCm39)		probably benign	Het
Atg16l2	A	G	7: 100,940,757 (GRCm39)	V453A	probably damaging	Het
BC034090	A	G	1: 155,101,662 (GRCm39)	S563P	probably benign	Het
Bhmt-ps1	A	G	4: 26,369,591 (GRCm39)		noncoding transcript	Het
Birc6	C	A	17: 74,959,700 (GRCm39)	P3855Q	probably damaging	Het
Cd151	A	T	7: 141,049,197 (GRCm39)	K8M	probably damaging	Het
Cd163	T	C	6: 124,304,890 (GRCm39)	V1089A	possibly damaging	Het
Chd3	A	T	11: 69,248,400 (GRCm39)		probably null	Het
Cnot6l	T	A	5: 96,281,971 (GRCm39)	E9V	probably damaging	Het
Col22a1	A	G	15: 71,794,806 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,729,484 (GRCm39)	M1T	probably null	Het
Dbp	T	C	7: 45,357,879 (GRCm39)	V149A	probably damaging	Het
Dnah10	T	C	5: 124,839,285 (GRCm39)	V1241A	probably benign	Het
Galnt10	T	C	11: 57,662,295 (GRCm39)	S314P	probably damaging	Het
Glce	C	T	9: 61,977,292 (GRCm39)		probably null	Het
Gm5093	C	G	17: 46,750,680 (GRCm39)	D116H	probably damaging	Het
Golim4	A	G	3: 75,785,951 (GRCm39)		probably null	Het
Helz2	A	T	2: 180,877,317 (GRCm39)	I1107N	probably damaging	Het
Hoxc9	T	C	15: 102,890,304 (GRCm39)	S74P	probably benign	Het
Ikbkb	T	A	8: 23,163,419 (GRCm39)	N297I	probably benign	Het
Il20ra	T	A	10: 19,625,000 (GRCm39)	I93N	probably damaging	Het
Itch	C	A	2: 155,034,065 (GRCm39)	N412K	probably damaging	Het
Lncpint	G	A	6: 31,157,974 (GRCm39)		noncoding transcript	Het
Lrrc39	A	T	3: 116,373,293 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Moxd1	C	T	10: 24,120,256 (GRCm39)	T128M	probably damaging	Het
Mpeg1	C	T	19: 12,439,823 (GRCm39)	S427F	probably damaging	Het
Nckap5	T	C	1: 125,953,798 (GRCm39)	Y854C	possibly damaging	Het
Ncln	C	T	10: 81,325,727 (GRCm39)	E373K	probably damaging	Het
Neurod4	T	C	10: 130,106,540 (GRCm39)	T245A	possibly damaging	Het
Nsun5	T	C	5: 135,399,067 (GRCm39)	L39P	probably damaging	Het
Or2ad1	G	T	13: 21,327,162 (GRCm39)	Q22K	probably benign	Het
Or4c105	A	T	2: 88,648,336 (GRCm39)	T274S	possibly damaging	Het
Or4f7	A	G	2: 111,644,906 (GRCm39)	L55S	probably damaging	Het
Pde8b	T	C	13: 95,162,678 (GRCm39)	T815A	probably benign	Het
Pofut2	C	T	10: 77,104,398 (GRCm39)	R392W	probably damaging	Het
Ppip5k2	G	A	1: 97,639,507 (GRCm39)	T1186I	probably benign	Het
Rhot2	A	C	17: 26,060,374 (GRCm39)	S277R	probably benign	Het
Satb1	T	G	17: 52,111,391 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,524,634 (GRCm39)	I88V	probably damaging	Het
Selenon	T	A	4: 134,267,997 (GRCm39)	E483V	probably damaging	Het
Serpinc1	A	G	1: 160,820,981 (GRCm39)	T22A	possibly damaging	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sf3b1	A	G	1: 55,040,580 (GRCm39)	Y561H	possibly damaging	Het
Smarcc1	T	A	9: 109,947,708 (GRCm39)		probably benign	Het
Stard3nl	C	T	13: 19,556,819 (GRCm39)	R107Q	probably damaging	Het
Syce1	C	T	7: 140,357,593 (GRCm39)	R324H	possibly damaging	Het
Tnk1	G	T	11: 69,743,119 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,150,968 (GRCm39)	F198L	probably damaging	Het
Trip4	A	T	9: 65,788,233 (GRCm39)	W71R	probably damaging	Het
Ubox5	A	C	2: 130,439,213 (GRCm39)		probably benign	Het
Ust	G	A	10: 8,183,202 (GRCm39)	T167M	probably damaging	Het
Zbtb2	T	C	10: 4,318,697 (GRCm39)	Q443R	probably benign	Het
Zfp407	A	G	18: 84,361,196 (GRCm39)		probably benign	Het

Other mutations in Kcna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02379:Kcna5	APN	6	126,511,472 (GRCm39)	missense	probably damaging	1.00
H8562:Kcna5	UTSW	6	126,510,386 (GRCm39)	missense	probably damaging	0.98
R0137:Kcna5	UTSW	6	126,510,346 (GRCm39)	missense	probably damaging	1.00
R0881:Kcna5	UTSW	6	126,511,957 (GRCm39)	missense	probably benign
R1561:Kcna5	UTSW	6	126,511,546 (GRCm39)	missense	probably damaging	1.00
R1730:Kcna5	UTSW	6	126,510,823 (GRCm39)	missense	probably damaging	1.00
R1783:Kcna5	UTSW	6	126,510,823 (GRCm39)	missense	probably damaging	1.00
R3940:Kcna5	UTSW	6	126,510,614 (GRCm39)	missense	probably damaging	1.00
R4276:Kcna5	UTSW	6	126,510,329 (GRCm39)	missense	probably damaging	1.00
R4372:Kcna5	UTSW	6	126,510,320 (GRCm39)	makesense	probably null
R4562:Kcna5	UTSW	6	126,511,303 (GRCm39)	missense	probably benign	0.00
R5130:Kcna5	UTSW	6	126,511,496 (GRCm39)	missense	probably benign	0.01
R5137:Kcna5	UTSW	6	126,510,946 (GRCm39)	missense	probably damaging	1.00
R5388:Kcna5	UTSW	6	126,511,859 (GRCm39)	missense	probably benign	0.04
R5890:Kcna5	UTSW	6	126,511,699 (GRCm39)	missense	probably damaging	1.00
R7159:Kcna5	UTSW	6	126,510,592 (GRCm39)	missense	probably damaging	1.00
R7162:Kcna5	UTSW	6	126,510,806 (GRCm39)	missense	possibly damaging	0.87
R7322:Kcna5	UTSW	6	126,510,754 (GRCm39)	missense	possibly damaging	0.83
R7353:Kcna5	UTSW	6	126,511,808 (GRCm39)	missense	probably benign	0.00
R7695:Kcna5	UTSW	6	126,511,174 (GRCm39)	missense	probably damaging	1.00
R7775:Kcna5	UTSW	6	126,511,768 (GRCm39)	nonsense	probably null
R7778:Kcna5	UTSW	6	126,511,768 (GRCm39)	nonsense	probably null
R7894:Kcna5	UTSW	6	126,512,011 (GRCm39)	missense	probably damaging	0.96
R7905:Kcna5	UTSW	6	126,511,831 (GRCm39)	missense	probably benign
R7961:Kcna5	UTSW	6	126,510,517 (GRCm39)	missense	probably benign
R8009:Kcna5	UTSW	6	126,510,517 (GRCm39)	missense	probably benign
R8388:Kcna5	UTSW	6	126,511,588 (GRCm39)	missense	probably benign	0.08
R9725:Kcna5	UTSW	6	126,511,844 (GRCm39)	missense	probably benign
Z1176:Kcna5	UTSW	6	126,510,679 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcna5	UTSW	6	126,510,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCAATGGCTCTTGCTGACC -3'
(R):5'- CTCCGACGGCTGGACTCAATAATC -3'

Sequencing Primer
(F):5'- GCTGGTAAAAGCGGATCTCATC -3'
(R):5'- GAGCTGCCACAGCCTAGAAG -3'

Posted On

2014-03-14