Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Kcnq3'

254507

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

040425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65858236-66158491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65903276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070256
AA Change: T145A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: T145A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183354

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,055,701 (GRCm39)	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,055,783 (GRCm39)	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 112,964,359 (GRCm39)		probably benign	Het
Ahi1	T	A	10: 20,846,810 (GRCm39)	C413*	probably null	Het
Alms1	T	A	6: 85,599,464 (GRCm39)	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,225,220 (GRCm39)	A894S	probably benign	Het
Arhgap33	C	A	7: 30,226,654 (GRCm39)	V494L	probably damaging	Het
Atic	G	T	1: 71,608,130 (GRCm39)	V275F	probably damaging	Het
Atoh1	T	A	6: 64,706,668 (GRCm39)	V121E	probably damaging	Het
Atp5pd	T	A	11: 115,306,864 (GRCm39)		probably null	Het
Baiap2l2	A	T	15: 79,146,174 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,465,227 (GRCm39)	T1664S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,835,464 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,692,621 (GRCm39)		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,500,368 (GRCm39)	F457S	probably damaging	Het
Disp3	T	A	4: 148,325,880 (GRCm39)	T1293S	probably damaging	Het
Dock10	T	A	1: 80,517,970 (GRCm39)	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,380,380 (GRCm39)	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,237,477 (GRCm39)	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,289,295 (GRCm39)	I259N	probably benign	Het
Fam149b	A	T	14: 20,425,578 (GRCm39)	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,458,285 (GRCm39)	K102E	probably benign	Het
Fzd7	C	A	1: 59,523,695 (GRCm39)	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,966,330 (GRCm39)	I35N	probably damaging	Het
Gars1	T	A	6: 55,042,548 (GRCm39)	M427K	probably damaging	Het
Gimap4	C	T	6: 48,667,799 (GRCm39)	R57C	probably damaging	Het
Gm11232	C	A	4: 71,676,022 (GRCm39)	W41L	probably benign	Het
Gm15737	T	A	6: 92,856,701 (GRCm39)	C43*	probably null	Het
Gpr180	T	C	14: 118,377,185 (GRCm39)	V62A	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,591,197 (GRCm39)	E27V	possibly damaging	Het
Krt8	A	G	15: 101,906,459 (GRCm39)	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,676,492 (GRCm39)		probably benign	Het
Lbr	G	T	1: 181,663,692 (GRCm39)	D109E	probably damaging	Het
Ldc1	A	T	4: 130,103,681 (GRCm39)	L420Q	probably benign	Het
Med23	A	G	10: 24,764,473 (GRCm39)	H42R	probably damaging	Het
Mgat5	A	T	1: 127,234,741 (GRCm39)	M77L	probably benign	Het
Mlf1	A	T	3: 67,291,919 (GRCm39)	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,125,864 (GRCm39)	L343R	probably damaging	Het
Mrpl37	T	A	4: 106,921,690 (GRCm39)	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,536,836 (GRCm39)	C116*	probably null	Het
Muc6	A	G	7: 141,226,651 (GRCm39)	S1354P	possibly damaging	Het
Myh7	A	T	14: 55,220,699 (GRCm39)	D1033E	probably damaging	Het
Myo16	A	T	8: 10,644,820 (GRCm39)	E1717D	probably benign	Het
Myo1g	T	A	11: 6,462,539 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,367 (GRCm39)	M262T	probably benign	Het
Or6c217	A	C	10: 129,737,964 (GRCm39)	L205R	probably damaging	Het
Pan2	T	C	10: 128,149,766 (GRCm39)	L576P	probably damaging	Het
Parp8	A	G	13: 117,032,223 (GRCm39)	S278P	possibly damaging	Het
Pdk2	A	G	11: 94,918,028 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,062 (GRCm39)	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,746,233 (GRCm39)	Y1919C	probably damaging	Het
Postn	T	A	3: 54,284,374 (GRCm39)	S614T	probably damaging	Het
Psmg1	A	T	16: 95,783,395 (GRCm39)	Y213*	probably null	Het
Rab11b	T	A	17: 33,966,692 (GRCm39)	T203S	probably benign	Het
Rad54l2	T	A	9: 106,580,825 (GRCm39)	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rapgef6	A	G	11: 54,578,537 (GRCm39)	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,669,197 (GRCm39)	S58P	possibly damaging	Het
Rreb1	G	T	13: 38,113,768 (GRCm39)	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 21,124,767 (GRCm39)	N345I	probably benign	Het
Sf3b2	A	T	19: 5,325,118 (GRCm39)	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,068,098 (GRCm39)	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,987,704 (GRCm39)	T668A	probably benign	Het
Stkld1	T	A	2: 26,840,650 (GRCm39)	I444N	probably damaging	Het
Sucla2	A	T	14: 73,790,244 (GRCm39)		probably benign	Het
Tmem67	T	A	4: 12,079,918 (GRCm39)	L190F	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trem2	G	A	17: 48,658,863 (GRCm39)	W191*	probably null	Het
Ube2d4	A	T	15: 58,718,528 (GRCm39)		noncoding transcript	Het
Uimc1	G	T	13: 55,223,617 (GRCm39)	D218E	probably damaging	Het
Wdr62	A	T	7: 29,973,424 (GRCm39)	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,310,203 (GRCm39)	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522 (GRCm39)	S163T	probably benign	Het
Zfp704	T	C	3: 9,674,553 (GRCm39)	D76G	unknown	Het

Other mutations in Kcnq3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Kcnq3	APN	15	65,867,120 (GRCm39)	missense	probably damaging	1.00
IGL00808:Kcnq3	APN	15	65,867,603 (GRCm39)	missense	possibly damaging	0.49
IGL00969:Kcnq3	APN	15	65,876,575 (GRCm39)	missense	probably damaging	1.00
IGL01121:Kcnq3	APN	15	65,877,826 (GRCm39)	splice site	probably benign
IGL01996:Kcnq3	APN	15	65,895,545 (GRCm39)	missense	probably damaging	0.98
IGL02153:Kcnq3	APN	15	65,897,040 (GRCm39)	missense	probably damaging	0.96
IGL02950:Kcnq3	APN	15	65,892,142 (GRCm39)	missense	probably benign	0.12
IGL02963:Kcnq3	APN	15	66,157,675 (GRCm39)	splice site	probably benign
IGL03102:Kcnq3	APN	15	65,900,637 (GRCm39)	missense	probably damaging	1.00
IGL03050:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	possibly damaging	0.52
R0345:Kcnq3	UTSW	15	65,892,154 (GRCm39)	missense	possibly damaging	0.55
R0388:Kcnq3	UTSW	15	65,871,887 (GRCm39)	missense	probably benign	0.00
R0730:Kcnq3	UTSW	15	65,867,457 (GRCm39)	missense	probably benign
R1173:Kcnq3	UTSW	15	65,871,891 (GRCm39)	missense	probably benign	0.01
R1610:Kcnq3	UTSW	15	65,897,109 (GRCm39)	missense	probably damaging	1.00
R1678:Kcnq3	UTSW	15	65,903,281 (GRCm39)	missense	probably damaging	1.00
R1714:Kcnq3	UTSW	15	65,871,912 (GRCm39)	missense	probably benign	0.21
R1755:Kcnq3	UTSW	15	65,867,270 (GRCm39)	missense	probably damaging	1.00
R1768:Kcnq3	UTSW	15	65,877,755 (GRCm39)	missense	probably damaging	0.98
R1873:Kcnq3	UTSW	15	65,874,104 (GRCm39)	missense	probably benign	0.16
R1925:Kcnq3	UTSW	15	65,876,658 (GRCm39)	missense	possibly damaging	0.75
R1970:Kcnq3	UTSW	15	65,900,472 (GRCm39)	critical splice donor site	probably null
R2140:Kcnq3	UTSW	15	65,877,827 (GRCm39)	splice site	probably benign
R2141:Kcnq3	UTSW	15	65,867,700 (GRCm39)	missense	probably benign	0.21
R2149:Kcnq3	UTSW	15	65,895,578 (GRCm39)	missense	probably damaging	1.00
R2212:Kcnq3	UTSW	15	65,892,142 (GRCm39)	missense	probably benign
R2272:Kcnq3	UTSW	15	65,900,529 (GRCm39)	missense	probably damaging	1.00
R2909:Kcnq3	UTSW	15	65,897,085 (GRCm39)	missense	possibly damaging	0.87
R3703:Kcnq3	UTSW	15	65,893,588 (GRCm39)	critical splice donor site	probably null
R3704:Kcnq3	UTSW	15	65,893,588 (GRCm39)	critical splice donor site	probably null
R3899:Kcnq3	UTSW	15	65,902,372 (GRCm39)	missense	probably benign	0.01
R4096:Kcnq3	UTSW	15	66,157,664 (GRCm39)	splice site	probably null
R4421:Kcnq3	UTSW	15	65,867,360 (GRCm39)	missense	probably benign	0.01
R4504:Kcnq3	UTSW	15	65,867,191 (GRCm39)	nonsense	probably null
R4505:Kcnq3	UTSW	15	65,867,191 (GRCm39)	nonsense	probably null
R4571:Kcnq3	UTSW	15	65,902,461 (GRCm39)	missense	probably damaging	1.00
R4577:Kcnq3	UTSW	15	66,158,063 (GRCm39)	missense	unknown
R4900:Kcnq3	UTSW	15	65,867,259 (GRCm39)	missense	probably damaging	1.00
R4981:Kcnq3	UTSW	15	65,903,254 (GRCm39)	missense	possibly damaging	0.84
R5015:Kcnq3	UTSW	15	65,876,612 (GRCm39)	missense	probably damaging	1.00
R5049:Kcnq3	UTSW	15	66,157,746 (GRCm39)	missense	probably benign	0.17
R5245:Kcnq3	UTSW	15	65,903,284 (GRCm39)	missense	possibly damaging	0.89
R5334:Kcnq3	UTSW	15	65,897,073 (GRCm39)	missense	probably damaging	1.00
R5528:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	probably damaging	0.97
R5532:Kcnq3	UTSW	15	65,869,622 (GRCm39)	nonsense	probably null
R5630:Kcnq3	UTSW	15	65,896,971 (GRCm39)	missense	probably damaging	1.00
R5639:Kcnq3	UTSW	15	65,869,599 (GRCm39)	missense	probably damaging	0.96
R5936:Kcnq3	UTSW	15	65,871,959 (GRCm39)	missense	probably damaging	1.00
R6306:Kcnq3	UTSW	15	65,876,643 (GRCm39)	missense	probably benign	0.40
R6576:Kcnq3	UTSW	15	65,897,027 (GRCm39)	missense	possibly damaging	0.52
R7006:Kcnq3	UTSW	15	65,892,165 (GRCm39)	nonsense	probably null
R7403:Kcnq3	UTSW	15	65,874,066 (GRCm39)	missense	probably damaging	1.00
R8140:Kcnq3	UTSW	15	65,867,390 (GRCm39)	missense	probably damaging	1.00
R9189:Kcnq3	UTSW	15	65,867,510 (GRCm39)	missense	probably damaging	1.00
RF045:Kcnq3	UTSW	15	66,158,033 (GRCm39)	small deletion	probably benign
X0060:Kcnq3	UTSW	15	65,903,235 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnq3	UTSW	15	65,867,301 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TTTGGGCTTGGACTACATGC -3'
(R):5'- TGTGGCTGATGGATGAAGTAAC -3'

Sequencing Primer
(F):5'- TGGATCATCATCAGAAAGGCTATGC -3'
(R):5'- TAATTGCCTGCTGCACC -3'

Posted On

2014-12-04