Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Kcnq3'

632497

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65986387-66286642 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65995541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 751 (I751T)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070256
AA Change: I751T

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

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: I751T

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly 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
R0388:Kcnq3	UTSW	15	66000038	missense	probably benign	0.00
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
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'- TGCTGAAGCCACTTGGAGAC -3'
(R):5'- CAACAGGTACTCTGATTTGAAAACC -3'

Sequencing Primer
(F):5'- AAGCCACTTGGAGACCGCTC -3'
(R):5'- TCTGCAACTACTCAGAGACAGGG -3'

Posted On

2020-06-30