Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Kcna5'

291285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcna5

Ensembl Gene

ENSMUSG00000045534

Gene Name

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

Synonyms

Kv1.5

Accession Numbers

Essential gene?

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

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

126509514-126512375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126511472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 219 (P219T)

Ref Sequence

ENSEMBL: ENSMUSP00000055673 (fasta)

Gene Model

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

AlphaFold

Q61762

Predicted Effect

probably damaging
Transcript: ENSMUST00000060972
AA Change: P219T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: P219T

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Kcna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1436:Kcna5	UTSW	6	126,511,724 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16