Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Kcnq2'

230846

Institutional Source

Beutler Lab

Gene Symbol

Kcnq2

Ensembl Gene

ENSMUSG00000016346

Gene Name

potassium voltage-gated channel, subfamily Q, member 2

Synonyms

KQT2, Nmf134

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

181075579-181135300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181081352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 628 (C628R)

Ref Sequence

ENSEMBL: ENSMUSP00000123488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016491] [ENSMUST00000049792] [ENSMUST00000081528] [ENSMUST00000103047] [ENSMUST00000103048] [ENSMUST00000103050] [ENSMUST00000103051] [ENSMUST00000129695] [ENSMUST00000149964] [ENSMUST00000197015]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016491

SMART Domains

Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	7.3e-29	PFAM
Pfam:Ion_trans_2	237	317	2.5e-14	PFAM
Pfam:KCNQ_channel	436	595	2e-59	PFAM
Pfam:KCNQ_channel	593	673	1.7e-22	PFAM
low complexity region	711	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049792

SMART Domains

Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	7.2e-29	PFAM
Pfam:Ion_trans_2	237	317	2.5e-14	PFAM
Pfam:KCNQ_channel	436	565	3.1e-55	PFAM
Pfam:KCNQ_channel	587	668	6.8e-23	PFAM
low complexity region	706	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081528

SMART Domains

Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	4.3e-29	PFAM
Pfam:Ion_trans_2	237	317	1.7e-14	PFAM
Pfam:KCNQ_channel	436	564	2.3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103047

SMART Domains

Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	7.1e-29	PFAM
Pfam:Ion_trans_2	237	317	2.5e-14	PFAM
Pfam:KCNQ_channel	424	583	2e-59	PFAM
Pfam:KCNQ_channel	581	661	1.7e-22	PFAM
low complexity region	699	711	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103048

SMART Domains

Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	6.7e-29	PFAM
Pfam:Ion_trans_2	237	317	2.4e-14	PFAM
Pfam:KCNQ_channel	436	637	1.3e-82	PFAM
low complexity region	675	687	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000103049
AA Change: C696R

SMART Domains

Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: C696R

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	35	268	3.7e-32	PFAM
Pfam:Ion_trans_2	181	261	1.1e-14	PFAM
Pfam:KCNQ_channel	392	584	1e-92	PFAM
Pfam:KCNQ2_u3	591	679	3.9e-39	PFAM
Pfam:KCNQC3-Ank-G_bd	692	791	1.1e-48	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000103050
AA Change: C741R

SMART Domains

Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: C741R

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	8.7e-29	PFAM
Pfam:Ion_trans_2	237	317	2.9e-14	PFAM
Pfam:KCNQ_channel	436	637	1.7e-82	PFAM
low complexity region	675	687	N/A	INTRINSIC
Pfam:KCNQC3-Ank-G_bd	737	839	1.6e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103051
AA Change: C754R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: C754R

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	8.9e-29	PFAM
Pfam:Ion_trans_2	237	317	2.9e-14	PFAM
Pfam:KCNQ_channel	446	647	1.7e-82	PFAM
low complexity region	685	697	N/A	INTRINSIC
Pfam:KCNQC3-Ank-G_bd	747	849	1.7e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129073

SMART Domains

Protein: ENSMUSP00000127061
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	1e-28	PFAM
Pfam:Ion_trans_2	237	317	3.4e-14	PFAM
Pfam:KCNQ_channel	436	565	3e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129695
AA Change: C628R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: C628R

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	14	198	6.8e-29	PFAM
Pfam:Ion_trans_2	123	203	2.4e-14	PFAM
Pfam:KCNQ_channel	320	521	1.3e-82	PFAM
low complexity region	559	571	N/A	INTRINSIC
Pfam:KCNQC3-Ank-G_bd	621	723	1.3e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145861

Predicted Effect

probably benign
Transcript: ENSMUST00000149964
AA Change: C772R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: C772R

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	91	324	4.4e-32	PFAM
Pfam:Ion_trans_2	237	317	1.3e-14	PFAM
low complexity region	418	431	N/A	INTRINSIC
Pfam:KCNQ_channel	466	659	6.2e-94	PFAM
Pfam:KCNQ2_u3	666	754	4.5e-39	PFAM
Pfam:KCNQC3-Ank-G_bd	767	866	1.2e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152099

Predicted Effect

probably benign
Transcript: ENSMUST00000197015
AA Change: C744R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: C744R

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	8.7e-29	PFAM
Pfam:Ion_trans_2	237	317	2.9e-14	PFAM
Pfam:KCNQ_channel	436	637	1.7e-82	PFAM
low complexity region	675	687	N/A	INTRINSIC
Pfam:KCNQC3-Ank-G_bd	737	839	1.6e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197599

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. 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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	Het

Other mutations in Kcnq2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Kcnq2	APN	2	181109789	unclassified	probably benign
IGL02064:Kcnq2	APN	2	181109026	missense	probably damaging	1.00
IGL02231:Kcnq2	APN	2	181081715	missense	probably benign	0.22
IGL02261:Kcnq2	APN	2	181081690	missense	probably damaging	0.98
IGL02510:Kcnq2	APN	2	181081361	missense	probably benign
IGL02583:Kcnq2	APN	2	181081502	missense	probably benign	0.01
IGL02627:Kcnq2	APN	2	181082327	unclassified	probably benign
IGL03303:Kcnq2	APN	2	181082389	missense	probably benign
R0269:Kcnq2	UTSW	2	181096974	missense	probably benign	0.00
R1535:Kcnq2	UTSW	2	181134825	missense	probably damaging	1.00
R1688:Kcnq2	UTSW	2	181087033	missense	probably damaging	1.00
R1776:Kcnq2	UTSW	2	181100557	missense	probably benign	0.01
R1946:Kcnq2	UTSW	2	181088451	missense	probably benign	0.09
R2382:Kcnq2	UTSW	2	181112107	missense	probably damaging	1.00
R2912:Kcnq2	UTSW	2	181081774	missense	probably damaging	1.00
R3826:Kcnq2	UTSW	2	181104900	missense	possibly damaging	0.56
R3898:Kcnq2	UTSW	2	181109686	missense	probably damaging	0.97
R4282:Kcnq2	UTSW	2	181081153	missense	probably damaging	1.00
R4938:Kcnq2	UTSW	2	181086973	missense	probably damaging	0.96
R4962:Kcnq2	UTSW	2	181112043	missense	possibly damaging	0.59
R5055:Kcnq2	UTSW	2	181086761	intron	probably benign
R5107:Kcnq2	UTSW	2	181108547	intron	probably benign
R5371:Kcnq2	UTSW	2	181135020	missense	probably damaging	1.00
R5557:Kcnq2	UTSW	2	181134897	missense	probably benign	0.07
R5839:Kcnq2	UTSW	2	181109751	missense	probably damaging	1.00
R5998:Kcnq2	UTSW	2	181087008	missense	probably damaging	1.00
R6084:Kcnq2	UTSW	2	181087656	missense	possibly damaging	0.53
R6207:Kcnq2	UTSW	2	181113233	missense	possibly damaging	0.49
R6744:Kcnq2	UTSW	2	181085306	missense	possibly damaging	0.94
R7018:Kcnq2	UTSW	2	181081724	nonsense	probably null
R7266:Kcnq2	UTSW	2	181135092	start codon destroyed	probably null	0.92
R7291:Kcnq2	UTSW	2	181088379	missense	possibly damaging	0.69
R7319:Kcnq2	UTSW	2	181109102	missense	probably damaging	1.00
R7447:Kcnq2	UTSW	2	181113094	missense	probably damaging	0.97
R7573:Kcnq2	UTSW	2	181081589	missense	probably benign	0.04
R7897:Kcnq2	UTSW	2	181081141	missense	probably damaging	1.00
R8942:Kcnq2	UTSW	2	181082451	missense	probably damaging	1.00
R9381:Kcnq2	UTSW	2	181109769	missense	probably damaging	0.97
R9394:Kcnq2	UTSW	2	181082424	missense	probably benign
R9516:Kcnq2	UTSW	2	181134960	missense	probably benign	0.00
R9544:Kcnq2	UTSW	2	181087614	missense	probably damaging	1.00
R9592:Kcnq2	UTSW	2	181087020	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTAGGGCCTGACCTTGG -3'
(R):5'- ATCATTAAGATCGTCCGCTCCAC -3'

Sequencing Primer
(F):5'- CTGACCTTGGCGCATGGTG -3'
(R):5'- TCTACGGGCCAGAGGAACTAC -3'

Posted On

2014-09-18