Mutagenetix > Incidental Mutation

Incidental Mutation 'R8325:Kcng3'

656550

Institutional Source

Beutler Lab

Gene Symbol

Kcng3

Ensembl Gene

ENSMUSG00000045053

Gene Name

potassium voltage-gated channel, subfamily G, member 3

Synonyms

KV6.3, Kv10.1a, Kv10.1b

MMRRC Submission

067857-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R8325 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

83893386-83939324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83939007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 14 (N14S)

Ref Sequence

ENSEMBL: ENSMUSP00000054910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051482]

AlphaFold

P59053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051482
AA Change: N14S

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: N14S

Domain	Start	End	E-Value	Type
BTB	9	119	5.2e-5	SMART
Pfam:Ion_trans	167	417	4.6e-42	PFAM
Pfam:Ion_trans_2	321	411	4.3e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	T	C	15: 89,453,954 (GRCm39)	V97A	probably benign	Het
Agrn	C	T	4: 156,258,119 (GRCm39)	G1081D	probably benign	Het
Ang2	A	G	14: 51,432,960 (GRCm39)	S141P	probably damaging	Het
Ap3b2	T	C	7: 81,134,237 (GRCm39)		probably null	Het
Apba2	A	T	7: 64,345,730 (GRCm39)	T307S	probably benign	Het
Cadm2	T	A	16: 66,612,338 (GRCm39)	N84Y	possibly damaging	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Ccdc62	T	C	5: 124,092,448 (GRCm39)	C478R	probably benign	Het
Cep290	A	C	10: 100,353,670 (GRCm39)	H801P	probably benign	Het
Chfr	T	A	5: 110,310,629 (GRCm39)	Y555*	probably null	Het
Cmas	T	C	6: 142,717,065 (GRCm39)		probably null	Het
Cmtm7	T	C	9: 114,592,415 (GRCm39)	I61V	probably benign	Het
Cyb5d2	A	G	11: 72,669,651 (GRCm39)	S236P	possibly damaging	Het
Dcp1b	C	T	6: 119,192,397 (GRCm39)	Q438*	probably null	Het
Dgcr8	T	C	16: 18,076,149 (GRCm39)	Q678R	probably damaging	Het
Emc1	T	A	4: 139,092,521 (GRCm39)	M487K	possibly damaging	Het
Gm7361	T	C	5: 26,467,154 (GRCm39)	S258P	probably damaging	Het
Hbs1l	A	G	10: 21,183,548 (GRCm39)	I96M	probably benign	Het
Ifi27l2a	G	A	12: 103,409,144 (GRCm39)	A49V	unknown	Het
Igkv10-96	T	C	6: 68,609,088 (GRCm39)	Y69C	possibly damaging	Het
Igsf10	A	T	3: 59,225,954 (GRCm39)	V2573D	probably damaging	Het
Kif20a	A	G	18: 34,759,975 (GRCm39)	T94A	possibly damaging	Het
Lcp2	T	A	11: 34,032,394 (GRCm39)	V324E	probably benign	Het
Lmod3	T	C	6: 97,224,379 (GRCm39)	K481E	probably benign	Het
Met	A	G	6: 17,571,671 (GRCm39)	E1330G	probably damaging	Het
Mroh1	GCCCAGGCCCC	GCC	15: 76,316,415 (GRCm39)		probably null	Het
Mss51	T	C	14: 20,534,771 (GRCm39)	D333G	possibly damaging	Het
Nav3	A	G	10: 109,541,464 (GRCm39)	V1933A	probably benign	Het
Nbas	A	G	12: 13,338,796 (GRCm39)	Y212C	probably damaging	Het
Nkapd1	T	C	9: 50,521,608 (GRCm39)	I104M	probably benign	Het
Npsr1	C	T	9: 24,198,118 (GRCm39)		probably benign	Het
Nt5e	A	G	9: 88,245,615 (GRCm39)	E295G	probably benign	Het
Or6b1	T	C	6: 42,815,124 (GRCm39)	F103S	probably damaging	Het
Or9m1b	A	T	2: 87,836,537 (GRCm39)	L186Q	probably damaging	Het
Papss1	A	G	3: 131,288,372 (GRCm39)	T136A	probably benign	Het
Pcdha1	A	T	18: 37,063,867 (GRCm39)	D177V	possibly damaging	Het
Pcolce2	A	T	9: 95,574,973 (GRCm39)	S308C	probably damaging	Het
Pdhx	G	T	2: 102,872,597 (GRCm39)	P162T	probably benign	Het
Plin3	C	T	17: 56,593,268 (GRCm39)	R98Q	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf213	A	G	11: 119,321,271 (GRCm39)	N1243S		Het
Serpinb1b	A	T	13: 33,277,584 (GRCm39)	K272N	probably benign	Het
Sez6l	A	T	5: 112,575,982 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,096,257 (GRCm39)	M739K	probably benign	Het
Tbc1d9	G	A	8: 83,966,667 (GRCm39)		probably null	Het
Trp53inp1	A	G	4: 11,164,561 (GRCm39)	D35G	probably damaging	Het
Trpc7	A	G	13: 56,952,524 (GRCm39)	V549A	probably damaging	Het
Usp18	T	C	6: 121,230,769 (GRCm39)	L66S	probably damaging	Het
Vmn1r238	C	T	18: 3,122,529 (GRCm39)	S295N	probably benign	Het
Vmn2r29	T	C	7: 7,244,941 (GRCm39)	D311G	probably damaging	Het
Vmn2r91	C	A	17: 18,356,625 (GRCm39)	A764D	probably damaging	Het
Wdfy4	T	A	14: 32,689,444 (GRCm39)	I3031F		Het
Wdr7	A	G	18: 63,911,535 (GRCm39)		probably null	Het

Other mutations in Kcng3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Kcng3	APN	17	83,895,279 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Kcng3	UTSW	17	83,895,611 (GRCm39)	missense	probably damaging	1.00
R0034:Kcng3	UTSW	17	83,895,812 (GRCm39)	splice site	probably benign
R0056:Kcng3	UTSW	17	83,895,185 (GRCm39)	missense	probably damaging	0.98
R0335:Kcng3	UTSW	17	83,895,166 (GRCm39)	missense	possibly damaging	0.51
R1224:Kcng3	UTSW	17	83,938,824 (GRCm39)	missense	probably damaging	1.00
R1462:Kcng3	UTSW	17	83,938,492 (GRCm39)	missense	probably damaging	0.96
R1601:Kcng3	UTSW	17	83,895,768 (GRCm39)	missense	probably damaging	1.00
R3147:Kcng3	UTSW	17	83,895,749 (GRCm39)	missense	possibly damaging	0.71
R4854:Kcng3	UTSW	17	83,895,735 (GRCm39)	missense	probably damaging	0.97
R5408:Kcng3	UTSW	17	83,938,434 (GRCm39)	missense	probably benign	0.12
R5719:Kcng3	UTSW	17	83,938,563 (GRCm39)	missense	possibly damaging	0.71
R5791:Kcng3	UTSW	17	83,895,639 (GRCm39)	missense	probably benign	0.02
R6155:Kcng3	UTSW	17	83,895,807 (GRCm39)	missense	probably benign
R6437:Kcng3	UTSW	17	83,938,558 (GRCm39)	missense	probably damaging	1.00
R8139:Kcng3	UTSW	17	83,938,516 (GRCm39)	missense	probably damaging	1.00
R8279:Kcng3	UTSW	17	83,895,254 (GRCm39)	missense	probably damaging	1.00
R9072:Kcng3	UTSW	17	83,938,423 (GRCm39)	missense	possibly damaging	0.95
R9073:Kcng3	UTSW	17	83,938,423 (GRCm39)	missense	possibly damaging	0.95
R9599:Kcng3	UTSW	17	83,895,211 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTACAGCAGGATGAAGCCG -3'
(R):5'- GCTAACGTTCGCCCTCTGG -3'

Sequencing Primer
(F):5'- CGAAGGCCTCCGAGTGTC -3'
(R):5'- ATTCGGGAGGGCGAACC -3'

Posted On

2020-12-17