Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Kcnq3'

31432

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65986387-66286642 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66000038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 594 (Y594F)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070256]

AlphaFold

Q8K3F6

Predicted Effect

probably benign
Transcript: ENSMUST00000070256
AA Change: Y594F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: Y594F

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	66	85	N/A	INTRINSIC
Pfam:Ion_trans	122	364	9.9e-31	PFAM
Pfam:Ion_trans_2	268	357	3.4e-14	PFAM
Pfam:KCNQ_channel	448	658	1.4e-89	PFAM
Pfam:KCNQC3-Ank-G_bd	771	867	3.8e-41	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in Kcnq3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Kcnq3	APN	15	65995271	missense	probably damaging	1.00
IGL00808:Kcnq3	APN	15	65995754	missense	possibly damaging	0.49
IGL00969:Kcnq3	APN	15	66004726	missense	probably damaging	1.00
IGL01121:Kcnq3	APN	15	66005977	splice site	probably benign
IGL01996:Kcnq3	APN	15	66023696	missense	probably damaging	0.98
IGL02153:Kcnq3	APN	15	66025191	missense	probably damaging	0.96
IGL02950:Kcnq3	APN	15	66020293	missense	probably benign	0.12
IGL02963:Kcnq3	APN	15	66285826	splice site	probably benign
IGL03102:Kcnq3	APN	15	66028788	missense	probably damaging	1.00
IGL03050:Kcnq3	UTSW	15	66025178	missense	possibly damaging	0.52
R0345:Kcnq3	UTSW	15	66020305	missense	possibly damaging	0.55
R0730:Kcnq3	UTSW	15	65995608	missense	probably benign
R1173:Kcnq3	UTSW	15	66000042	missense	probably benign	0.01
R1610:Kcnq3	UTSW	15	66025260	missense	probably damaging	1.00
R1678:Kcnq3	UTSW	15	66031432	missense	probably damaging	1.00
R1714:Kcnq3	UTSW	15	66000063	missense	probably benign	0.21
R1755:Kcnq3	UTSW	15	65995421	missense	probably damaging	1.00
R1768:Kcnq3	UTSW	15	66005906	missense	probably damaging	0.98
R1873:Kcnq3	UTSW	15	66002255	missense	probably benign	0.16
R1925:Kcnq3	UTSW	15	66004809	missense	possibly damaging	0.75
R1970:Kcnq3	UTSW	15	66028623	critical splice donor site	probably null
R2140:Kcnq3	UTSW	15	66005978	splice site	probably benign
R2141:Kcnq3	UTSW	15	65995851	missense	probably benign	0.21
R2149:Kcnq3	UTSW	15	66023729	missense	probably damaging	1.00
R2212:Kcnq3	UTSW	15	66020293	missense	probably benign
R2272:Kcnq3	UTSW	15	66028680	missense	probably damaging	1.00
R2566:Kcnq3	UTSW	15	66031427	missense	probably damaging	1.00
R2909:Kcnq3	UTSW	15	66025236	missense	possibly damaging	0.87
R3703:Kcnq3	UTSW	15	66021739	critical splice donor site	probably null
R3704:Kcnq3	UTSW	15	66021739	critical splice donor site	probably null
R3899:Kcnq3	UTSW	15	66030523	missense	probably benign	0.01
R4096:Kcnq3	UTSW	15	66285815	splice site	probably null
R4421:Kcnq3	UTSW	15	65995511	missense	probably benign	0.01
R4504:Kcnq3	UTSW	15	65995342	nonsense	probably null
R4505:Kcnq3	UTSW	15	65995342	nonsense	probably null
R4571:Kcnq3	UTSW	15	66030612	missense	probably damaging	1.00
R4577:Kcnq3	UTSW	15	66286214	missense	unknown
R4900:Kcnq3	UTSW	15	65995410	missense	probably damaging	1.00
R4981:Kcnq3	UTSW	15	66031405	missense	possibly damaging	0.84
R5015:Kcnq3	UTSW	15	66004763	missense	probably damaging	1.00
R5049:Kcnq3	UTSW	15	66285897	missense	probably benign	0.17
R5245:Kcnq3	UTSW	15	66031435	missense	possibly damaging	0.89
R5334:Kcnq3	UTSW	15	66025224	missense	probably damaging	1.00
R5528:Kcnq3	UTSW	15	66025178	missense	probably damaging	0.97
R5532:Kcnq3	UTSW	15	65997773	nonsense	probably null
R5630:Kcnq3	UTSW	15	66025122	missense	probably damaging	1.00
R5639:Kcnq3	UTSW	15	65997750	missense	probably damaging	0.96
R5936:Kcnq3	UTSW	15	66000110	missense	probably damaging	1.00
R6306:Kcnq3	UTSW	15	66004794	missense	probably benign	0.40
R6576:Kcnq3	UTSW	15	66025178	missense	possibly damaging	0.52
R7006:Kcnq3	UTSW	15	66020316	nonsense	probably null
R7403:Kcnq3	UTSW	15	66002217	missense	probably damaging	1.00
R8140:Kcnq3	UTSW	15	65995541	missense	probably damaging	1.00
R9189:Kcnq3	UTSW	15	65995661	missense	probably damaging	1.00
RF045:Kcnq3	UTSW	15	66286184	small deletion	probably benign
X0060:Kcnq3	UTSW	15	66031386	missense	probably damaging	1.00
Z1177:Kcnq3	UTSW	15	65995452	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TCTTGGAAGGGGTATCGGTCAAGC -3'
(R):5'- TCACTCCCTCAGACTTCAGAAGATAGC -3'

Sequencing Primer
(F):5'- AGCTGACGCATTAGCTCC -3'
(R):5'- GACTTCAGAAGATAGCAATATCATGC -3'

Posted On

2013-04-24