Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Kcnq3'

236164

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65986387-66286642 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 66005978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably benign
Transcript: ENSMUST00000070256

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477 (GRCm38)	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802 (GRCm38)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898 (GRCm38)	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433 (GRCm38)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116 (GRCm38)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716 (GRCm38)	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697 (GRCm38)	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366 (GRCm38)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087 (GRCm38)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000 (GRCm38)		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320 (GRCm38)		probably null	Het
Ccdc80	A	T	16: 45,127,446 (GRCm38)	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,526,932 (GRCm38)	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437 (GRCm38)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137 (GRCm38)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628 (GRCm38)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806 (GRCm38)		probably null	Het
Crb1	T	C	1: 139,237,012 (GRCm38)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454 (GRCm38)	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162 (GRCm38)	M362L	probably benign	Het
Dck	T	C	5: 88,772,723 (GRCm38)	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810 (GRCm38)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670 (GRCm38)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742 (GRCm38)	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394 (GRCm38)		probably benign	Het
Esco1	A	G	18: 10,574,873 (GRCm38)		probably null	Het
Exoc8	C	T	8: 124,897,415 (GRCm38)	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035 (GRCm38)	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460 (GRCm38)	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,343,810 (GRCm38)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,595,048 (GRCm38)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,956,487 (GRCm38)	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617 (GRCm38)	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374 (GRCm38)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084 (GRCm38)	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361 (GRCm38)	H657L	probably benign	Het
Gm4787	A	G	12: 81,378,562 (GRCm38)	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,118,886 (GRCm38)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312 (GRCm38)	503	probably null	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431 (GRCm38)	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685 (GRCm38)		probably null	Het
Kcnma1	A	C	14: 23,314,220 (GRCm38)	L988R	probably damaging	Het
Kctd16	A	G	18: 40,259,178 (GRCm38)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156 (GRCm38)	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694 (GRCm38)		probably null	Het
Laptm4b	G	T	15: 34,238,332 (GRCm38)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615 (GRCm38)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409 (GRCm38)	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750 (GRCm38)	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102 (GRCm38)	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509 (GRCm38)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110 (GRCm38)	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592 (GRCm38)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940 (GRCm38)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123 (GRCm38)	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125 (GRCm38)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,825,979 (GRCm38)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,499,668 (GRCm38)	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568 (GRCm38)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442 (GRCm38)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166 (GRCm38)	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003 (GRCm38)	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281 (GRCm38)	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471 (GRCm38)	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095 (GRCm38)	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396 (GRCm38)	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881 (GRCm38)	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996 (GRCm38)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567 (GRCm38)	V173G	probably benign	Het
Plec	T	C	15: 76,183,174 (GRCm38)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562 (GRCm38)	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988 (GRCm38)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988 (GRCm38)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693 (GRCm38)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078 (GRCm38)	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419 (GRCm38)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607 (GRCm38)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148 (GRCm38)	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434 (GRCm38)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544 (GRCm38)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655 (GRCm38)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794 (GRCm38)	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645 (GRCm38)		probably benign	Het
Tiparp	C	A	3: 65,529,252 (GRCm38)		probably benign	Het
Tmem39b	T	C	4: 129,678,688 (GRCm38)	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791 (GRCm38)	R188*	probably null	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207 (GRCm38)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237 (GRCm38)	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528 (GRCm38)	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977 (GRCm38)	F167I	probably damaging	Het

Other mutations in Kcnq3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Kcnq3	APN	15	65,995,271 (GRCm38)	missense	probably damaging	1.00
IGL00808:Kcnq3	APN	15	65,995,754 (GRCm38)	missense	possibly damaging	0.49
IGL00969:Kcnq3	APN	15	66,004,726 (GRCm38)	missense	probably damaging	1.00
IGL01121:Kcnq3	APN	15	66,005,977 (GRCm38)	splice site	probably benign
IGL01996:Kcnq3	APN	15	66,023,696 (GRCm38)	missense	probably damaging	0.98
IGL02153:Kcnq3	APN	15	66,025,191 (GRCm38)	missense	probably damaging	0.96
IGL02950:Kcnq3	APN	15	66,020,293 (GRCm38)	missense	probably benign	0.12
IGL02963:Kcnq3	APN	15	66,285,826 (GRCm38)	splice site	probably benign
IGL03102:Kcnq3	APN	15	66,028,788 (GRCm38)	missense	probably damaging	1.00
IGL03050:Kcnq3	UTSW	15	66,025,178 (GRCm38)	missense	possibly damaging	0.52
R0345:Kcnq3	UTSW	15	66,020,305 (GRCm38)	missense	possibly damaging	0.55
R0388:Kcnq3	UTSW	15	66,000,038 (GRCm38)	missense	probably benign	0.00
R0730:Kcnq3	UTSW	15	65,995,608 (GRCm38)	missense	probably benign
R1173:Kcnq3	UTSW	15	66,000,042 (GRCm38)	missense	probably benign	0.01
R1610:Kcnq3	UTSW	15	66,025,260 (GRCm38)	missense	probably damaging	1.00
R1678:Kcnq3	UTSW	15	66,031,432 (GRCm38)	missense	probably damaging	1.00
R1714:Kcnq3	UTSW	15	66,000,063 (GRCm38)	missense	probably benign	0.21
R1755:Kcnq3	UTSW	15	65,995,421 (GRCm38)	missense	probably damaging	1.00
R1768:Kcnq3	UTSW	15	66,005,906 (GRCm38)	missense	probably damaging	0.98
R1873:Kcnq3	UTSW	15	66,002,255 (GRCm38)	missense	probably benign	0.16
R1925:Kcnq3	UTSW	15	66,004,809 (GRCm38)	missense	possibly damaging	0.75
R1970:Kcnq3	UTSW	15	66,028,623 (GRCm38)	critical splice donor site	probably null
R2141:Kcnq3	UTSW	15	65,995,851 (GRCm38)	missense	probably benign	0.21
R2149:Kcnq3	UTSW	15	66,023,729 (GRCm38)	missense	probably damaging	1.00
R2212:Kcnq3	UTSW	15	66,020,293 (GRCm38)	missense	probably benign
R2272:Kcnq3	UTSW	15	66,028,680 (GRCm38)	missense	probably damaging	1.00
R2566:Kcnq3	UTSW	15	66,031,427 (GRCm38)	missense	probably damaging	1.00
R2909:Kcnq3	UTSW	15	66,025,236 (GRCm38)	missense	possibly damaging	0.87
R3703:Kcnq3	UTSW	15	66,021,739 (GRCm38)	critical splice donor site	probably null
R3704:Kcnq3	UTSW	15	66,021,739 (GRCm38)	critical splice donor site	probably null
R3899:Kcnq3	UTSW	15	66,030,523 (GRCm38)	missense	probably benign	0.01
R4096:Kcnq3	UTSW	15	66,285,815 (GRCm38)	splice site	probably null
R4421:Kcnq3	UTSW	15	65,995,511 (GRCm38)	missense	probably benign	0.01
R4504:Kcnq3	UTSW	15	65,995,342 (GRCm38)	nonsense	probably null
R4505:Kcnq3	UTSW	15	65,995,342 (GRCm38)	nonsense	probably null
R4571:Kcnq3	UTSW	15	66,030,612 (GRCm38)	missense	probably damaging	1.00
R4577:Kcnq3	UTSW	15	66,286,214 (GRCm38)	missense	unknown
R4900:Kcnq3	UTSW	15	65,995,410 (GRCm38)	missense	probably damaging	1.00
R4981:Kcnq3	UTSW	15	66,031,405 (GRCm38)	missense	possibly damaging	0.84
R5015:Kcnq3	UTSW	15	66,004,763 (GRCm38)	missense	probably damaging	1.00
R5049:Kcnq3	UTSW	15	66,285,897 (GRCm38)	missense	probably benign	0.17
R5245:Kcnq3	UTSW	15	66,031,435 (GRCm38)	missense	possibly damaging	0.89
R5334:Kcnq3	UTSW	15	66,025,224 (GRCm38)	missense	probably damaging	1.00
R5528:Kcnq3	UTSW	15	66,025,178 (GRCm38)	missense	probably damaging	0.97
R5532:Kcnq3	UTSW	15	65,997,773 (GRCm38)	nonsense	probably null
R5630:Kcnq3	UTSW	15	66,025,122 (GRCm38)	missense	probably damaging	1.00
R5639:Kcnq3	UTSW	15	65,997,750 (GRCm38)	missense	probably damaging	0.96
R5936:Kcnq3	UTSW	15	66,000,110 (GRCm38)	missense	probably damaging	1.00
R6306:Kcnq3	UTSW	15	66,004,794 (GRCm38)	missense	probably benign	0.40
R6576:Kcnq3	UTSW	15	66,025,178 (GRCm38)	missense	possibly damaging	0.52
R7006:Kcnq3	UTSW	15	66,020,316 (GRCm38)	nonsense	probably null
R7403:Kcnq3	UTSW	15	66,002,217 (GRCm38)	missense	probably damaging	1.00
R8140:Kcnq3	UTSW	15	65,995,541 (GRCm38)	missense	probably damaging	1.00
R9189:Kcnq3	UTSW	15	65,995,661 (GRCm38)	missense	probably damaging	1.00
RF045:Kcnq3	UTSW	15	66,286,184 (GRCm38)	small deletion	probably benign
X0060:Kcnq3	UTSW	15	66,031,386 (GRCm38)	missense	probably damaging	1.00
Z1177:Kcnq3	UTSW	15	65,995,452 (GRCm38)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GTAGGCTTTCATGCGGAAGG -3'
(R):5'- TTGGAAATTTGCTCAAGGTGTAACC -3'

Sequencing Primer
(F):5'- GAAGGCGGTGCGGAAAC -3'
(R):5'- GCTAGAATTAGGATTTGAACCACTCC -3'

Posted On

2014-10-01