Mutagenetix > Incidental Mutation

Incidental Mutation 'R9189:Kcnq3'

697638

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

068951-MU

Accession Numbers

Essential gene?

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

Stock #

R9189 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65858236-66158491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65867510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 711 (Y711C)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070256
AA Change: Y711C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: Y711C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	A	11: 116,065,231 (GRCm39)	D608V	probably damaging	Het
Actg1	A	T	11: 120,239,013 (GRCm39)	C26S	unknown	Het
Ahnak	T	A	19: 8,988,247 (GRCm39)	V3177E	possibly damaging	Het
Akap11	G	A	14: 78,750,938 (GRCm39)	T483I		Het
Akr1cl	A	G	1: 65,063,830 (GRCm39)	S120P	probably benign	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Ankrd55	A	T	13: 112,504,570 (GRCm39)	I439F	probably damaging	Het
Asb8	A	G	15: 98,040,635 (GRCm39)	M9T	possibly damaging	Het
Ascc1	A	T	10: 59,843,645 (GRCm39)	Y69F	probably benign	Het
Atp9a	A	T	2: 168,518,060 (GRCm39)		probably null	Het
Cd8b1	T	C	6: 71,306,752 (GRCm39)	F160L	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cep250	A	G	2: 155,818,350 (GRCm39)	T842A	probably benign	Het
Cgnl1	T	A	9: 71,630,847 (GRCm39)	K552*	probably null	Het
Cntnap4	C	T	8: 113,602,600 (GRCm39)	T1227M	possibly damaging	Het
Cobll1	C	A	2: 64,981,333 (GRCm39)	V86F	probably damaging	Het
Dchs2	A	G	3: 83,255,561 (GRCm39)	N2419S	probably damaging	Het
Dhx30	A	T	9: 109,914,494 (GRCm39)	L1001*	probably null	Het
Diaph1	C	T	18: 38,024,162 (GRCm39)	V559M	unknown	Het
Dis3l	A	T	9: 64,217,731 (GRCm39)	H783Q	probably benign	Het
Dock7	T	G	4: 98,877,350 (GRCm39)	T1063P	unknown	Het
Dsc1	T	C	18: 20,232,214 (GRCm39)	T265A	possibly damaging	Het
Eif2ak4	A	T	2: 118,258,393 (GRCm39)	Q581L	probably damaging	Het
Eprs1	A	T	1: 185,106,334 (GRCm39)	D183V	possibly damaging	Het
Fads2	G	C	19: 10,069,183 (GRCm39)	D80E	probably benign	Het
Fam167b	G	A	4: 129,470,875 (GRCm39)	R158C	probably damaging	Het
Flnb	T	A	14: 7,892,976 (GRCm38)	I682K	possibly damaging	Het
Garin4	G	A	1: 190,894,900 (GRCm39)	T581I	possibly damaging	Het
Gpatch2l	C	T	12: 86,291,152 (GRCm39)	P112S	probably benign	Het
Gpn1	T	A	5: 31,654,710 (GRCm39)	H87Q	unknown	Het
Greb1l	T	C	18: 10,499,983 (GRCm39)	V350A	probably benign	Het
Grm5	A	T	7: 87,724,024 (GRCm39)	K771N	probably damaging	Het
Gucy2c	C	T	6: 136,728,045 (GRCm39)	S319N	probably benign	Het
H2bc8	A	G	13: 23,755,761 (GRCm39)	D52G	probably damaging	Het
Hcfc2	G	T	10: 82,535,041 (GRCm39)	A22S	probably benign	Het
Hnf4a	A	G	2: 163,393,497 (GRCm39)	D39G	probably benign	Het
Il6st	C	T	13: 112,635,340 (GRCm39)	T584M	probably damaging	Het
Irf3	T	A	7: 44,650,246 (GRCm39)	V254E	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kank4	T	A	4: 98,668,289 (GRCm39)	K53*	probably null	Het
Kcnj11	A	T	7: 45,748,176 (GRCm39)	F382L	possibly damaging	Het
Kctd3	A	G	1: 188,704,636 (GRCm39)	S712P	possibly damaging	Het
Krt20	A	G	11: 99,323,087 (GRCm39)	I245T	possibly damaging	Het
Larp1b	T	C	3: 40,925,039 (GRCm39)	I219T	probably damaging	Het
Lman2l	A	G	1: 36,478,771 (GRCm39)	F114L	probably damaging	Het
Loxl2	T	A	14: 69,929,859 (GRCm39)	Y746N	possibly damaging	Het
Lrrc43	T	C	5: 123,646,109 (GRCm39)	S628P	probably benign	Het
Mroh8	A	C	2: 157,111,545 (GRCm39)	D136E	probably damaging	Het
Nek8	T	A	11: 78,063,342 (GRCm39)	M141L	probably benign	Het
Nr2e1	C	A	10: 42,454,268 (GRCm39)	R22L	probably damaging	Het
Nr6a1	C	T	2: 38,816,129 (GRCm39)		probably null	Het
Onecut2	A	G	18: 64,473,890 (GRCm39)	Y147C	probably damaging	Het
Or1ad1	T	A	11: 50,876,166 (GRCm39)	C213S	probably damaging	Het
Or1j1	T	A	2: 36,702,214 (GRCm39)	M297L	possibly damaging	Het
Or5d37	A	G	2: 87,924,194 (GRCm39)	F29L	probably damaging	Het
Or5d39	T	C	2: 87,979,908 (GRCm39)	M152V	probably benign	Het
Pcdhac2	T	C	18: 37,277,316 (GRCm39)	F99L	probably benign	Het
Pcdhga2	T	G	18: 37,802,795 (GRCm39)	V213G	possibly damaging	Het
Pgap1	A	T	1: 54,519,908 (GRCm39)	V909E	probably benign	Het
Pik3r4	A	T	9: 105,547,038 (GRCm39)	T939S	probably benign	Het
Pip4k2c	T	C	10: 127,035,246 (GRCm39)	D374G	possibly damaging	Het
Plxdc1	A	T	11: 97,844,788 (GRCm39)	D252E	probably benign	Het
Pm20d1	A	C	1: 131,730,115 (GRCm39)	D218A	probably damaging	Het
Polq	C	A	16: 36,865,265 (GRCm39)	Q706K	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss41	A	T	17: 24,061,361 (GRCm39)	H143Q	probably damaging	Het
Ptpn21	A	G	12: 98,655,261 (GRCm39)	Y569H	probably damaging	Het
Rad17	T	C	13: 100,773,564 (GRCm39)	K142E	probably damaging	Het
Rcan3	T	C	4: 135,152,607 (GRCm39)	E38G	probably benign	Het
Rgl3	C	A	9: 21,885,356 (GRCm39)	R658L	possibly damaging	Het
Rnf125	T	A	18: 21,116,240 (GRCm39)	*141K	probably null	Het
Ros1	G	T	10: 52,019,502 (GRCm39)	N711K	probably damaging	Het
Rsph10b	T	A	5: 143,896,504 (GRCm39)	Y421N	probably benign	Het
Ryr1	C	T	7: 28,776,471 (GRCm39)	V2222I	probably damaging	Het
Samsn1	C	T	16: 75,656,449 (GRCm39)	C333Y	probably damaging	Het
Slc9a2	G	A	1: 40,794,944 (GRCm39)	E502K	probably benign	Het
Stard9	A	T	2: 120,533,500 (GRCm39)	E3252D	possibly damaging	Het
Syne1	C	A	10: 5,123,008 (GRCm39)	R309S	probably damaging	Het
Syne1	T	C	10: 5,172,289 (GRCm39)	I5051V	probably benign	Het
Syngap1	A	G	17: 27,183,948 (GRCm39)	S1241G	probably damaging	Het
Tbpl2	T	C	2: 23,966,030 (GRCm39)	K321R	probably damaging	Het
Tnrc18	C	T	5: 142,717,107 (GRCm39)	G2449E	probably damaging	Het
Trim25	A	G	11: 88,901,731 (GRCm39)	D342G	probably benign	Het
Tssk4	T	A	14: 55,887,904 (GRCm39)	H33Q	probably benign	Het
Ttc3	G	A	16: 94,268,831 (GRCm39)	G1971D	possibly damaging	Het
Tufm	C	T	7: 126,088,849 (GRCm39)	Q347*	probably null	Het
Ubxn10	G	A	4: 138,448,133 (GRCm39)	S181F	possibly damaging	Het
Ushbp1	T	C	8: 71,841,539 (GRCm39)	E430G	probably benign	Het
Vmn1r33	T	C	6: 66,588,716 (GRCm39)	I279M	possibly damaging	Het
Vmn2r115	T	C	17: 23,564,784 (GRCm39)	F224L	probably damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vps13a	T	C	19: 16,663,961 (GRCm39)	I1481V	probably benign	Het
Vps35	T	C	8: 86,007,898 (GRCm39)	N294S	possibly damaging	Het
Washc3	A	T	10: 88,051,916 (GRCm39)	T102S	probably benign	Het
Zfp27	T	A	7: 29,595,359 (GRCm39)	E202V	possibly damaging	Het
Zfp58	T	C	13: 67,640,035 (GRCm39)	H152R	possibly damaging	Het
Zfr2	T	C	10: 81,080,496 (GRCm39)	V390A	probably damaging	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
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
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'- CGAATAGGGACCTTGCAGTTC -3'
(R):5'- TCCTCGTGGACATGCATATG -3'

Sequencing Primer
(F):5'- AATAGGGACCTTGCAGTTCTGTCTG -3'
(R):5'- CGCTTACAGGTACATGTCACTGAG -3'

Posted On

2022-02-07