Mutagenetix > Incidental Mutation

Incidental Mutation 'R6850:Kcna3'

535584

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

044954-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.542) question?

Stock #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106943485-106945386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106944475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 246 (D246V)

Ref Sequence

ENSEMBL: ENSMUSP00000050680 (fasta)

Gene Model

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

AlphaFold

P16390

Predicted Effect

probably damaging
Transcript: ENSMUST00000052718
AA Change: D246V

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

SMART Domains

Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: D246V

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,270,318 (GRCm39)	M927V	probably benign	Het
Agr2	A	G	12: 36,045,558 (GRCm39)	I15V	probably benign	Het
Alpk1	A	G	3: 127,523,012 (GRCm39)	I10T	possibly damaging	Het
Art5	A	G	7: 101,747,302 (GRCm39)	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,942 (GRCm39)	R32W	probably benign	Het
Atp8b1	A	C	18: 64,689,923 (GRCm39)	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321 (GRCm39)	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231 (GRCm39)	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,057,535 (GRCm39)	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,031,604 (GRCm39)	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,369,137 (GRCm39)	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,947,600 (GRCm39)	N485D	probably benign	Het
Dusp4	A	T	8: 35,283,651 (GRCm39)	K166*	probably null	Het
Ect2	T	C	3: 27,193,034 (GRCm39)	D344G	probably damaging	Het
Eif2b1	T	C	5: 124,717,069 (GRCm39)	D3G	probably benign	Het
Ermp1	A	G	19: 29,594,041 (GRCm39)	Y710H	probably damaging	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
H2-T10	A	G	17: 36,430,152 (GRCm39)	L263P	probably damaging	Het
Iqcn	A	T	8: 71,163,425 (GRCm39)	N873Y	probably damaging	Het
Itga7	A	T	10: 128,781,385 (GRCm39)	I621F	probably damaging	Het
Kctd12	C	T	14: 103,219,414 (GRCm39)	G155S	probably benign	Het
Lrtm1	T	C	14: 28,749,407 (GRCm39)	V256A	probably benign	Het
Mcf2l	T	C	8: 13,059,476 (GRCm39)	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,399,019 (GRCm39)	F999L	probably damaging	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,892,955 (GRCm39)	A6764T	possibly damaging	Het
Obscn	C	T	11: 58,958,950 (GRCm39)	V3643M	possibly damaging	Het
Or4c102	T	A	2: 88,422,650 (GRCm39)	C167*	probably null	Het
Or8g18	T	C	9: 39,149,271 (GRCm39)	I150V	probably benign	Het
Pdhx	T	C	2: 102,871,445 (GRCm39)	H195R	probably damaging	Het
Pdilt	A	T	7: 119,086,182 (GRCm39)	V511E	probably damaging	Het
Prima1	C	T	12: 103,163,594 (GRCm39)	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prune2	C	A	19: 17,099,552 (GRCm39)	D1685E	probably benign	Het
Ptgs2	A	T	1: 149,981,291 (GRCm39)	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,441 (GRCm39)	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,808 (GRCm39)	D216E	probably damaging	Het
Scn5a	A	T	9: 119,330,815 (GRCm39)	L1240Q	possibly damaging	Het
Sohlh2	A	T	3: 55,099,707 (GRCm39)	T160S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31h1	A	C	10: 82,128,888 (GRCm39)	M1374R	possibly damaging	Het
Tank	A	G	2: 61,480,346 (GRCm39)	E294G	probably benign	Het
Tars1	T	A	15: 11,392,885 (GRCm39)	Y187F	probably benign	Het
Tas2r144	T	A	6: 42,192,857 (GRCm39)	M199K	possibly damaging	Het
Tdrd3	T	C	14: 87,695,515 (GRCm39)		probably benign	Het
Tecta	T	A	9: 42,255,134 (GRCm39)	D1683V	probably benign	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tmie	A	G	9: 110,695,980 (GRCm39)	I137T	possibly damaging	Het
Trim45	T	A	3: 100,830,541 (GRCm39)	L105*	probably null	Het
Trpv3	G	A	11: 73,182,519 (GRCm39)	G568S	probably damaging	Het
Wdr75	A	G	1: 45,853,758 (GRCm39)	T390A	probably benign	Het
Wdr97	A	G	15: 76,241,996 (GRCm39)	Y763C	probably damaging	Het
Zfp35	G	A	18: 24,135,839 (GRCm39)	R61H	possibly damaging	Het

Other mutations in Kcna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Kcna3	APN	3	106,944,472 (GRCm39)	missense	probably benign	0.33
IGL00562:Kcna3	APN	3	106,944,046 (GRCm39)	missense	probably damaging	1.00
IGL01106:Kcna3	APN	3	106,945,180 (GRCm39)	missense	possibly damaging	0.89
IGL01318:Kcna3	APN	3	106,945,294 (GRCm39)	missense	probably benign	0.03
IGL02253:Kcna3	APN	3	106,944,727 (GRCm39)	missense	probably damaging	1.00
IGL03379:Kcna3	APN	3	106,944,521 (GRCm39)	missense	probably benign	0.05
IGL02802:Kcna3	UTSW	3	106,944,369 (GRCm39)	missense	probably damaging	0.99
IGL03014:Kcna3	UTSW	3	106,945,206 (GRCm39)	missense	probably benign	0.00
R0393:Kcna3	UTSW	3	106,944,315 (GRCm39)	missense	probably damaging	1.00
R1591:Kcna3	UTSW	3	106,944,345 (GRCm39)	missense	probably damaging	1.00
R1922:Kcna3	UTSW	3	106,945,251 (GRCm39)	missense	possibly damaging	0.47
R1950:Kcna3	UTSW	3	106,944,988 (GRCm39)	missense	probably damaging	1.00
R3847:Kcna3	UTSW	3	106,944,012 (GRCm39)	missense	possibly damaging	0.57
R4912:Kcna3	UTSW	3	106,945,207 (GRCm39)	missense	probably benign
R6261:Kcna3	UTSW	3	106,945,266 (GRCm39)	missense	possibly damaging	0.53
R6271:Kcna3	UTSW	3	106,944,922 (GRCm39)	missense	probably damaging	1.00
R6334:Kcna3	UTSW	3	106,943,740 (GRCm39)	start codon destroyed	probably null
R6423:Kcna3	UTSW	3	106,944,158 (GRCm39)	nonsense	probably null
R6901:Kcna3	UTSW	3	106,943,884 (GRCm39)	missense	probably benign	0.00
R7193:Kcna3	UTSW	3	106,943,853 (GRCm39)	missense	probably benign	0.02
R7524:Kcna3	UTSW	3	106,944,523 (GRCm39)	missense	probably damaging	1.00
R8676:Kcna3	UTSW	3	106,943,908 (GRCm39)	missense	probably damaging	0.97
R9698:Kcna3	UTSW	3	106,944,405 (GRCm39)	missense	probably benign
Z1088:Kcna3	UTSW	3	106,944,269 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcna3	UTSW	3	106,944,582 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGCTCTTCGAATATCCG -3'
(R):5'- CATTACCTTGTCGTTCAGCCAG -3'

Sequencing Primer
(F):5'- TTCGAATATCCGGAGAGCTCC -3'
(R):5'- TGTCGTTCAGCCAGCTCAGTG -3'

Posted On

2018-09-12