Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Kcna5'

570735

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

045439-MU

Accession Numbers

Essential gene?

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

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126509514-126512375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126511808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 107 (S107P)

Ref Sequence

ENSEMBL: ENSMUSP00000055673 (fasta)

Gene Model

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

AlphaFold

Q61762

Predicted Effect

probably benign
Transcript: ENSMUST00000060972
AA Change: S107P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: S107P

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

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,034,249 (GRCm39)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j1	A	G	2: 36,702,915 (GRCm39)	L63P	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Prkag2	A	T	5: 25,085,684 (GRCm39)	V312E	possibly damaging	Het
Rps17	T	A	7: 80,994,093 (GRCm39)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Zmpste24	A	G	4: 120,952,778 (GRCm39)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	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
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
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'- CAGACTGGTAGTAGTACAAAATGCC -3'
(R):5'- CGACGGCTGGACTCAATAATC -3'

Sequencing Primer
(F):5'- ATGCCATCGAAGCTAGGC -3'
(R):5'- GTCCAAAGAAACATCACCGAGGAG -3'

Posted On

2019-09-13