Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Kcnq3'

219811

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

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

Stock #

R1970 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65858236-66158491 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65900472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183354

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,549 (GRCm39)	H578Q	probably benign	Het
Abcc12	A	G	8: 87,253,910 (GRCm39)	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,981,030 (GRCm39)		probably null	Het
Acap2	A	G	16: 30,952,345 (GRCm39)		probably null	Het
Adgrb1	T	C	15: 74,411,726 (GRCm39)		probably benign	Het
Akap6	T	A	12: 52,985,258 (GRCm39)	V897E	probably damaging	Het
Als2	A	T	1: 59,254,328 (GRCm39)	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,589,376 (GRCm39)	I1275M	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,284,300 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,928,609 (GRCm39)		probably benign	Het
C1qtnf4	T	C	2: 90,720,003 (GRCm39)	M92T	probably damaging	Het
Ccdc177	G	A	12: 80,805,486 (GRCm39)	R263C	unknown	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdc7	A	G	5: 107,120,940 (GRCm39)		probably benign	Het
Cgnl1	T	A	9: 71,632,817 (GRCm39)	N178I	probably benign	Het
Col27a1	C	T	4: 63,191,354 (GRCm39)		probably benign	Het
Col5a1	A	T	2: 27,876,766 (GRCm39)	M822L	unknown	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Csmd3	T	C	15: 48,536,927 (GRCm39)	T92A	probably damaging	Het
Ddc	A	G	11: 11,765,292 (GRCm39)	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx60	A	T	8: 62,425,240 (GRCm39)	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Dydc2	A	G	14: 40,783,860 (GRCm39)	C88R	probably benign	Het
Elovl4	A	G	9: 83,662,772 (GRCm39)	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Fam83h	G	T	15: 75,878,419 (GRCm39)		probably benign	Het
Fbf1	T	A	11: 116,042,317 (GRCm39)	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,362,158 (GRCm39)	L323Q	probably damaging	Het
Fmnl2	T	A	2: 52,995,588 (GRCm39)	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Garem2	G	T	5: 30,322,172 (GRCm39)	G844*	probably null	Het
Glmp	T	C	3: 88,235,177 (GRCm39)	L269S	probably damaging	Het
Gm9915	T	C	1: 42,269,881 (GRCm39)		noncoding transcript	Het
Gnb4	A	T	3: 32,652,290 (GRCm39)	D27E	probably damaging	Het
Gnb5	A	G	9: 75,251,932 (GRCm39)		probably null	Het
Gpr161	T	G	1: 165,133,927 (GRCm39)	V63G	probably damaging	Het
Gsk3a	T	A	7: 24,929,146 (GRCm39)		probably benign	Het
Hapln2	T	C	3: 87,931,427 (GRCm39)		probably null	Het
Incenp	G	T	19: 9,862,851 (GRCm39)	T401N	unknown	Het
Kalrn	A	G	16: 33,797,894 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,098,894 (GRCm39)	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,664,030 (GRCm39)	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,801,492 (GRCm39)	A291T	probably damaging	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Ldhc	A	G	7: 46,519,175 (GRCm39)	I133V	probably benign	Het
Lmntd2	G	A	7: 140,791,972 (GRCm39)		probably benign	Het
Lpl	A	T	8: 69,349,454 (GRCm39)	K327*	probably null	Het
Lrp1b	T	C	2: 40,765,081 (GRCm39)	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,362,843 (GRCm39)	A131S	probably benign	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,252,576 (GRCm39)	I377T	probably damaging	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myof	A	T	19: 37,934,082 (GRCm39)	D955E	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncor2	T	C	5: 125,115,982 (GRCm39)	D858G	probably damaging	Het
Neb	A	T	2: 52,153,917 (GRCm39)	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,324,121 (GRCm39)	T453R	probably benign	Het
Nf1	A	G	11: 79,444,787 (GRCm39)	N371D	probably benign	Het
Nhsl3	A	G	4: 129,119,810 (GRCm39)		probably benign	Het
Nlrp4f	T	C	13: 65,341,905 (GRCm39)	Y580C	probably damaging	Het
Nme8	A	C	13: 19,836,492 (GRCm39)	L228R	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2d3b	G	A	7: 106,513,453 (GRCm39)	G16D	probably damaging	Het
Or4k77	C	T	2: 111,199,421 (GRCm39)	S148L	probably benign	Het
Or8g55	T	A	9: 39,785,234 (GRCm39)	I221N	probably damaging	Het
Or8k3	T	A	2: 86,058,596 (GRCm39)	T240S	probably damaging	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,199,566 (GRCm39)		probably benign	Het
Pdxk	G	A	10: 78,276,988 (GRCm39)	T270I	probably damaging	Het
Pex5	T	C	6: 124,391,364 (GRCm39)	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,846,112 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,852,422 (GRCm39)	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,939,478 (GRCm39)	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,325,069 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,167,642 (GRCm39)	I638V	probably damaging	Het
Prag1	A	G	8: 36,596,314 (GRCm39)		probably null	Het
Ranbp10	A	G	8: 106,513,340 (GRCm39)	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,623,723 (GRCm39)	L824P	probably damaging	Het
Rec8	T	C	14: 55,861,599 (GRCm39)	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,874,305 (GRCm39)	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,321,307 (GRCm39)	T373K	probably benign	Het
Rpl35rt	T	G	1: 156,194,017 (GRCm39)	*124G	probably null	Het
Rrn3	T	C	16: 13,606,938 (GRCm39)	S151P	probably damaging	Het
Scn7a	A	G	2: 66,514,633 (GRCm39)	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,345,724 (GRCm39)	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,589,430 (GRCm39)	D706G	probably damaging	Het
Serpina5	A	T	12: 104,070,116 (GRCm39)	T338S	probably benign	Het
Sez6	G	A	11: 77,844,894 (GRCm39)		probably null	Het
Shisa4	C	T	1: 135,300,012 (GRCm39)	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,536,999 (GRCm39)	L51V	probably benign	Het
Slit3	A	G	11: 35,521,668 (GRCm39)		probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Spta1	T	C	1: 174,067,933 (GRCm39)	V2120A	possibly damaging	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,494,736 (GRCm39)	I234V	probably benign	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Top3b	A	G	16: 16,701,383 (GRCm39)	I232V	probably damaging	Het
Tspan1	T	A	4: 116,020,826 (GRCm39)	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,383,501 (GRCm39)	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,380,077 (GRCm39)	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,190,862 (GRCm39)	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,278,942 (GRCm39)	S415P	probably damaging	Het
Vcan	A	T	13: 89,837,157 (GRCm39)	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,099,826 (GRCm39)	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,534,373 (GRCm39)	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 84,801,013 (GRCm39)	Y308N	probably benign	Het
Vmn2r75	A	T	7: 85,797,470 (GRCm39)	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,379,394 (GRCm39)	I500F	probably damaging	Het
Zfp609	A	G	9: 65,702,559 (GRCm39)	V31A	probably damaging	Het
Zfp689	G	T	7: 127,043,959 (GRCm39)	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,554,475 (GRCm39)	L113H	probably benign	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
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
R2566:Kcnq3	UTSW	15	65,903,276 (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'- CCCTGGGCTACATCTACATATGC -3'
(R):5'- AGTGCTAGAAATGGGGTCTTTC -3'

Sequencing Primer
(F):5'- ACTGCAGGAAGATGGTTC -3'
(R):5'- AAATGGGGTCTTTCTTTTGCATGACC -3'

Posted On

2014-08-25