Mutagenetix > Incidental Mutations

Incidental Mutation 'R7524:Kcna3'

582826

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107036169-107038070 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107037207 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000050680 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052718
AA Change: E262G

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

SMART Domains

Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: E262G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 55,872,360	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,918,111	E452V	probably damaging	Het
AI464131	C	A	4: 41,498,779	V284L	probably benign	Het
Ak6	A	G	13: 100,663,907	D45G	probably benign	Het
Arhgap17	G	A	7: 123,306,420	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259		probably null	Het
Bend7	A	G	2: 4,799,980	T424A	probably benign	Het
Btbd2	C	T	10: 80,646,444	E241K	probably damaging	Het
Commd2	A	C	3: 57,650,148	L99W	probably damaging	Het
Cpne9	A	T	6: 113,302,064	D473V	probably damaging	Het
Cuzd1	A	T	7: 131,311,618	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,455,945	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,376,696	Q234L	probably benign	Het
Dennd3	T	G	15: 73,524,246	Y201*	probably null	Het
Dnah17	T	C	11: 118,121,481	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,066	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,118,099	D2167G	probably damaging	Het
Dst	T	C	1: 34,291,893	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,659,709	Y736H	probably damaging	Het
Eri2	C	G	7: 119,785,749	V510L	probably benign	Het
Eya2	G	A	2: 165,769,326		probably null	Het
Fam208a	T	A	14: 27,466,203	C869S	probably damaging	Het
Fastkd5	G	T	2: 130,616,128	Q181K	probably benign	Het
Fcgbp	T	C	7: 28,102,966	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,868,740	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181	S304T	probably benign	Het
Gtf2a2	T	A	9: 70,015,347	Y3*	probably null	Het
Hagh	G	A	17: 24,861,340	V226I	probably benign	Het
Hemk1	T	A	9: 107,328,285	I293F	probably benign	Het
Kcnt2	A	T	1: 140,584,055	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,678,414	H7Q	probably damaging	Het
Knl1	A	T	2: 119,065,979	Q94L	probably damaging	Het
Krt12	T	C	11: 99,419,659	D224G	probably damaging	Het
Lats1	T	A	10: 7,701,978	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Map1a	G	A	2: 121,289,812	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,303,836	T453A	unknown	Het
Muc3a	A	C	5: 137,210,563	I151S	probably benign	Het
Oaf	G	A	9: 43,222,780	R215C	probably damaging	Het
Olfr1019	T	A	2: 85,841,357	M145L	probably benign	Het
Olfr1217	T	A	2: 89,023,971	I11L	probably benign	Het
Olfr1233	A	G	2: 89,339,877	C142R	probably benign	Het
Olfr1507	T	C	14: 52,490,293	I224V	probably damaging	Het
Olfr5	T	C	7: 6,480,587	N190D	probably benign	Het
Olfr8	T	A	10: 78,955,491	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,721,608	D352V	probably benign	Het
Pced1a	A	G	2: 130,422,028	F235L	probably benign	Het
Pclo	A	G	5: 14,678,303	I2392V	unknown	Het
Pld1	A	T	3: 28,024,321	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,350,894	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,842,864	L93H	probably damaging	Het
Psg20	T	C	7: 18,684,659	D61G	probably benign	Het
Rab40b	T	A	11: 121,388,052	I31F	probably damaging	Het
Rasd2	T	C	8: 75,222,081	F212L	probably benign	Het
Rbl2	A	G	8: 91,115,193	I1006V	probably benign	Het
Sema6c	A	G	3: 95,167,060	E59G	probably benign	Het
Slc22a2	G	T	17: 12,606,057	V269L	possibly damaging	Het
Slc2a1	C	T	4: 119,132,612	P149S	probably damaging	Het
Smad4	T	G	18: 73,675,871	E108D	probably damaging	Het
Sorbs2	T	A	8: 45,795,656	I648K	probably benign	Het
Suclg1	A	T	6: 73,263,841	I118F	probably damaging	Het
Tet2	A	G	3: 133,480,229	I1149T	probably benign	Het
Tfr2	T	A	5: 137,571,489	Y82*	probably null	Het
Tfr2	G	T	5: 137,583,489	V613L	probably benign	Het
Tg	A	T	15: 66,696,161	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,844,105	M170L	probably benign	Het
Trim71	T	C	9: 114,513,162	N684S	probably benign	Het
Tspan9	A	G	6: 127,965,251	I212T	probably benign	Het
Ttn	A	G	2: 76,942,975	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,936,759	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,053,982	I219V	probably benign	Het
Vmn2r76	T	C	7: 86,225,369	H800R	probably benign	Het
Vmn2r76	C	T	7: 86,230,166	G309R	probably benign	Het
Xpc	A	T	6: 91,499,531	C529S	probably benign	Het
Zfp455	T	A	13: 67,207,624	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,064,889	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,192,074	I490N	probably damaging	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
R1950:Kcna3	UTSW	3	107037672	missense	probably damaging	1.00
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
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'- CCATTGTGTCAGTGCTGGTC -3'
(R):5'- CCTTACTAGGCGGATGACTCTC -3'

Sequencing Primer
(F):5'- GTCATCTTCTGCTTGGAGACGC -3'
(R):5'- ATGACTCTCAGGATGGCCAG -3'

Posted On

2019-10-17