Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Kcna3'

729414

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

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106943485-106945386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106944405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 223 (S223P)

Ref Sequence

ENSEMBL: ENSMUSP00000050680 (fasta)

Gene Model

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

AlphaFold

P16390

Predicted Effect

probably benign
Transcript: ENSMUST00000052718
AA Change: S223P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: S223P

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: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	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
R6850:Kcna3	UTSW	3	106,944,475 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGAGATCCGCTTTTACCAGC -3'
(R):5'- CATGATATTTCTGGAGAAGGTGGC -3'

Sequencing Primer
(F):5'- AGGATGAGGGCTTCCTGC -3'
(R):5'- CTTTACTGGGGCAAGCAAAGAACC -3'

Posted On

2022-10-06