Mutagenetix > Incidental Mutations

Incidental Mutation 'R1950:Kcna3'

217182

Institutional Source

Beutler Lab

Gene Symbol

Kcna3

Ensembl Gene

ENSMUSG00000047959

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 3

Synonyms

Kv1.3, Mk-3, Kca1-3

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R1950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107036169-107038070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107037672 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 417 (C417Y)

Ref Sequence

ENSEMBL: ENSMUSP00000050680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052718]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052718
AA Change: C417Y

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

SMART Domains

Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: C417Y

Domain	Start	End	E-Value	Type
low complexity region	16	37	N/A	INTRINSIC
low complexity region	41	49	N/A	INTRINSIC
BTB	57	157	6.9e-10	SMART
Pfam:Ion_trans	186	444	4.2e-54	PFAM
Pfam:Ion_trans_2	352	437	2.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070085

SMART Domains

Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145

Domain	Start	End	E-Value	Type
low complexity region	79	99	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182414

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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 ion 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, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 3,960,677	N478S	probably damaging	Het
Als2	T	A	1: 59,185,601		probably null	Het
Ankfy1	A	G	11: 72,760,329	Y1035C	probably damaging	Het
Ankrd11	T	C	8: 122,889,869	T2394A	probably damaging	Het
Axin1	G	C	17: 26,193,964	G780R	possibly damaging	Het
Carm1	A	T	9: 21,574,516	T127S	probably benign	Het
Ccdc73	T	C	2: 104,926,935	I81T	probably benign	Het
Cdh12	T	C	15: 21,237,879	Y67H	probably damaging	Het
Cfap65	C	A	1: 74,907,660	G1297V	probably damaging	Het
Cfap74	T	C	4: 155,427,430		probably null	Het
Chit1	A	G	1: 134,151,230	Y426C	probably damaging	Het
Clpp	A	G	17: 56,996,039		probably benign	Het
Clrn3	T	G	7: 135,514,084	Y179S	possibly damaging	Het
Cntn5	A	C	9: 9,781,769	M635R	probably damaging	Het
Col12a1	A	T	9: 79,630,549	S2546T	possibly damaging	Het
Ctla2b	T	C	13: 60,896,049	N102S	possibly damaging	Het
Cwf19l2	A	T	9: 3,418,674	I154F	probably benign	Het
Cyhr1	A	G	15: 76,659,217		probably null	Het
Dffa	C	A	4: 149,104,382	S44R	probably benign	Het
Ehbp1	T	A	11: 22,059,228	K930M	probably damaging	Het
Erc2	T	A	14: 27,912,900	S473T	probably damaging	Het
Fam71f1	C	T	6: 29,335,816		probably null	Het
Fbxw24	A	T	9: 109,605,413	L373H	probably benign	Het
Fer1l4	T	C	2: 156,048,274	I244V	probably damaging	Het
Fgfr2	G	A	7: 130,198,481	T245M	probably damaging	Het
Gbp9	T	A	5: 105,081,246	M512L	probably benign	Het
Glg1	T	A	8: 111,165,639	K251I	possibly damaging	Het
Gm10553	A	G	1: 85,100,420	D86G	possibly damaging	Het
Gm10767	A	G	13: 66,907,205		probably benign	Het
Gm5622	T	C	14: 51,655,772	V52A	probably benign	Het
Gucy1b1	A	G	3: 82,045,409	V239A	probably benign	Het
Gzma	A	G	13: 113,093,929	L246P	probably damaging	Het
Hibadh	C	A	6: 52,556,463	A223S	probably benign	Het
Hydin	C	A	8: 110,609,987	T5132N	possibly damaging	Het
Insrr	A	G	3: 87,814,513	N1198S	probably damaging	Het
Ivl	T	C	3: 92,572,113	E215G	possibly damaging	Het
Jmjd1c	A	G	10: 67,239,922	D2037G	possibly damaging	Het
Klra2	T	C	6: 131,230,115	N177S	probably benign	Het
Llgl2	T	C	11: 115,851,066	S645P	probably damaging	Het
Lrrc15	T	C	16: 30,273,831	E230G	probably benign	Het
Magel2	C	A	7: 62,378,415	Q356K	possibly damaging	Het
Mcm6	A	G	1: 128,345,989	V368A	probably benign	Het
Myh8	G	A	11: 67,279,004	V50M	possibly damaging	Het
Myrf	A	T	19: 10,218,190	F419I	possibly damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Olfr1330	G	A	4: 118,893,340	V86M	probably benign	Het
Olfr556	A	G	7: 102,670,477	M186V	probably benign	Het
Otud4	G	A	8: 79,646,332	R93H	probably damaging	Het
Pank4	T	A	4: 154,972,520	M390K	probably benign	Het
Pecam1	A	G	11: 106,685,203	V401A	probably damaging	Het
Prdm6	C	A	18: 53,536,724	T138K	possibly damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Prpf8	A	G	11: 75,496,511	E1206G	possibly damaging	Het
Prr30	A	T	14: 101,197,941	I395N	probably benign	Het
Rab27a	G	A	9: 73,075,469	G19R	probably damaging	Het
Rrp12	A	G	19: 41,892,590	V134A	probably damaging	Het
Scly	A	G	1: 91,305,394	T76A	probably benign	Het
Scube3	T	C	17: 28,164,300	S439P	possibly damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sipa1l1	T	C	12: 82,341,459	F153S	probably damaging	Het
Slc25a30	T	G	14: 75,769,567	K163T	possibly damaging	Het
Slc26a8	T	A	17: 28,644,640	D715V	probably benign	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Smr2	C	CT	5: 88,108,826		probably null	Het
Sp6	T	G	11: 97,022,114	S218A	probably benign	Het
Spata21	T	C	4: 141,111,405	V589A	probably damaging	Het
Sycp2	T	C	2: 178,402,800	I71V	probably benign	Het
Syne2	G	T	12: 75,952,870	G2347C	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Thbs4	A	T	13: 92,769,571	N387K	probably damaging	Het
Tmem184a	T	C	5: 139,807,626	D216G	probably damaging	Het
Tprg	T	A	16: 25,317,348	S30T	possibly damaging	Het
Trip12	A	T	1: 84,760,801	W778R	probably damaging	Het
Ttpa	T	C	4: 20,008,633	L65P	probably damaging	Het
Ush2a	A	T	1: 188,755,185	N3050I	probably damaging	Het
Xpot	T	C	10: 121,619,148	I30V	probably benign	Het
Zfp944	A	G	17: 22,339,700	S189P	probably benign	Het

Other mutations in Kcna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Kcna3	APN	3	107037156	missense	probably benign	0.33
IGL00562:Kcna3	APN	3	107036730	missense	probably damaging	1.00
IGL01106:Kcna3	APN	3	107037864	missense	possibly damaging	0.89
IGL01318:Kcna3	APN	3	107037978	missense	probably benign	0.03
IGL02253:Kcna3	APN	3	107037411	missense	probably damaging	1.00
IGL03379:Kcna3	APN	3	107037205	missense	probably benign	0.05
IGL02802:Kcna3	UTSW	3	107037053	missense	probably damaging	0.99
IGL03014:Kcna3	UTSW	3	107037890	missense	probably benign	0.00
R0393:Kcna3	UTSW	3	107036999	missense	probably damaging	1.00
R1591:Kcna3	UTSW	3	107037029	missense	probably damaging	1.00
R1922:Kcna3	UTSW	3	107037935	missense	possibly damaging	0.47
R3847:Kcna3	UTSW	3	107036696	missense	possibly damaging	0.57
R4912:Kcna3	UTSW	3	107037891	missense	probably benign
R6261:Kcna3	UTSW	3	107037950	missense	possibly damaging	0.53
R6271:Kcna3	UTSW	3	107037606	missense	probably damaging	1.00
R6334:Kcna3	UTSW	3	107036424	start codon destroyed	probably null
R6423:Kcna3	UTSW	3	107036842	nonsense	probably null
R6850:Kcna3	UTSW	3	107037159	missense	probably damaging	1.00
R6901:Kcna3	UTSW	3	107036568	missense	probably benign	0.00
R7193:Kcna3	UTSW	3	107036537	missense	probably benign	0.02
R7524:Kcna3	UTSW	3	107037207	missense	probably damaging	1.00
R8676:Kcna3	UTSW	3	107036592	missense	probably damaging	0.97
Z1088:Kcna3	UTSW	3	107036953	missense	probably damaging	1.00
Z1176:Kcna3	UTSW	3	107037266	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAGGACAGACGCTGAAG -3'
(R):5'- GAGTTACTCCGGGCTTTTCG -3'

Sequencing Primer
(F):5'- AGACGCTGAAGGCTTCCATG -3'
(R):5'- GGGCTTTTCGGAGCTCCTC -3'

Posted On

2014-08-01