Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Kcng3'

250586

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

039516-MU

Accession Numbers

Essential gene?

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

Stock #

R1462 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83893386-83939324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83938492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 186 (C186S)

Ref Sequence

ENSEMBL: ENSMUSP00000054910 (fasta)

Gene Model

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

AlphaFold

P59053

Predicted Effect

probably damaging
Transcript: ENSMUST00000051482
AA Change: C186S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: C186S

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

Meta Mutation Damage Score

0.5553

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Hycc1	A	G	5: 24,190,730 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	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
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
R8325:Kcng3	UTSW	17	83,939,007 (GRCm39)	missense	possibly damaging	0.83
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'- TGGGGACCCATAGATTCCTCACAC -3'
(R):5'- AACGAGATGATCTACTGGGGCCTG -3'

Sequencing Primer
(F):5'- CAGGACGGAGACcggac -3'
(R):5'- CTAGACGACCGCATGTCC -3'

Posted On

2014-11-14