Mutagenetix > Incidental Mutations

Incidental Mutation 'R1535:Kcnq2'

166865

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

039574-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1535 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

181075579-181135300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 181134825 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 90 (G90S)

Ref Sequence

ENSEMBL: ENSMUSP00000099340 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016491
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: G90S

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 damaging
Transcript: ENSMUST00000049792
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: G90S

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 damaging
Transcript: ENSMUST00000081528
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: G90S

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

possibly damaging
Transcript: ENSMUST00000103047
AA Change: G90S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: G90S

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 damaging
Transcript: ENSMUST00000103048
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: G90S

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: G33S

SMART Domains

Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: G33S

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: G90S

SMART Domains

Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: G90S

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 damaging
Transcript: ENSMUST00000103051
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: G90S

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: ENSMUST00000123336

SMART Domains

Protein: ENSMUSP00000130700
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	2.2e-30	PFAM
Pfam:Ion_trans_2	237	317	1.6e-15	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

noncoding transcript
Transcript: ENSMUST00000129361

SMART Domains

Protein: ENSMUSP00000131756
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	310	7.6e-29	PFAM
Pfam:Ion_trans_2	237	311	2.9e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149964
AA Change: G90S

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: G90S

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

probably damaging
Transcript: ENSMUST00000197015
AA Change: G90S

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

SMART Domains

Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: G90S

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

noncoding transcript
Transcript: ENSMUST00000139458

SMART Domains

Protein: ENSMUSP00000130633
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	91	324	2.6e-32	PFAM
Pfam:Ion_trans_2	237	317	9.7e-15	PFAM
low complexity region	408	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144592

SMART Domains

Protein: ENSMUSP00000133237
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	5.6e-29	PFAM
Pfam:Ion_trans_2	237	317	2.2e-14	PFAM
low complexity region	398	415	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154164

SMART Domains

Protein: ENSMUSP00000131544
Gene: ENSMUSG00000016346

Domain	Start	End	E-Value	Type
transmembrane domain	93	115	N/A	INTRINSIC
Pfam:Ion_trans	128	312	1.4e-29	PFAM
Pfam:Ion_trans_2	237	317	7.8e-15	PFAM

Meta Mutation Damage Score

0.6850

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,764,007	R40Q	probably damaging	Het
3110009E18Rik	T	C	1: 120,171,473	S99P	possibly damaging	Het
4932431P20Rik	C	T	7: 29,529,579		noncoding transcript	Het
Abca16	T	A	7: 120,540,705	I1530N	probably benign	Het
Abcc9	T	G	6: 142,664,635	Q601P	probably damaging	Het
Acap3	A	G	4: 155,896,174		probably benign	Het
Adamts16	A	T	13: 70,791,794		probably null	Het
Alpk2	G	C	18: 65,350,204	S244R	probably benign	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Bend5	C	A	4: 111,459,763	D374E	probably benign	Het
Catsperg2	T	C	7: 29,698,246	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,757,397	G189*	probably null	Het
Ces2h	A	G	8: 105,014,486	T37A	probably benign	Het
Cmah	T	C	13: 24,439,220	F213L	probably damaging	Het
Cntn2	T	C	1: 132,525,384	E390G	probably benign	Het
Coq7	C	T	7: 118,529,674	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,266,287	D136V	probably benign	Het
Cxcr2	T	C	1: 74,159,058	L237P	probably damaging	Het
Daam1	T	C	12: 71,951,918	L549P	unknown	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dis3	G	T	14: 99,079,426	Q825K	probably damaging	Het
Dnah11	C	T	12: 118,018,730	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,816,322	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,546,064	E2041K	probably damaging	Het
Doxl2	T	C	6: 48,975,464	F108L	probably damaging	Het
Eci1	A	G	17: 24,439,090	E282G	probably benign	Het
Egf	T	A	3: 129,690,778	T464S	probably benign	Het
Eif4g3	C	T	4: 138,097,302	P97S	probably damaging	Het
Emsy	A	G	7: 98,593,737	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,708,166		probably benign	Het
Fam13a	A	C	6: 58,939,347	I607S	probably damaging	Het
Fam241b	A	G	10: 62,108,949	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,523,527	M1L	probably benign	Het
Fnip2	C	A	3: 79,481,765	C553F	probably damaging	Het
Frmd3	G	T	4: 74,013,758		probably benign	Het
Gm597	T	C	1: 28,777,424	E509G	probably damaging	Het
Gm9745	A	T	13: 8,940,644		probably benign	Het
Grm4	G	A	17: 27,434,801	S470L	probably benign	Het
Gucy2e	T	A	11: 69,226,244	I784F	probably damaging	Het
H1fx	T	C	6: 87,981,148	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,420,407	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,168,538	G161R	probably damaging	Het
Idi1	T	C	13: 8,886,909		probably benign	Het
Klhl29	A	G	12: 5,084,486	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,794,570		probably benign	Het
Macf1	A	T	4: 123,440,693	F4420I	probably benign	Het
Me1	A	G	9: 86,587,043	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,870,605	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,702,779	L273P	probably damaging	Het
Mical1	A	G	10: 41,485,211	K757R	possibly damaging	Het
Myh9	A	T	15: 77,777,813	V782D	probably damaging	Het
Nab2	C	G	10: 127,665,047	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,761,724	N244K	probably damaging	Het
Nupr1l	A	G	5: 129,908,831	I80M	probably damaging	Het
Olfr1229	T	C	2: 89,283,057	I46M	probably benign	Het
Olfr583	A	G	7: 103,051,369	T24A	probably benign	Het
Olfr76	A	G	19: 12,120,332	C115R	probably damaging	Het
Pkn3	A	G	2: 30,087,053	T602A	probably benign	Het
Prrc2b	T	A	2: 32,204,289	V561D	probably benign	Het
Psd2	T	A	18: 36,005,790	V489E	probably benign	Het
Rasal2	T	C	1: 157,230,059	T181A	probably benign	Het
Serpinb13	T	C	1: 106,982,156	M1T	probably null	Het
Sgsm1	A	T	5: 113,263,269	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,673,941	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Son	A	G	16: 91,659,734	K1790E	probably damaging	Het
Syde2	A	G	3: 146,002,421		probably benign	Het
Tmem126a	T	C	7: 90,452,818	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,802,174	Y269C	probably damaging	Het
Yeats2	T	A	16: 20,189,365	S416T	probably damaging	Het
Zfp40	A	T	17: 23,175,869	H513Q	probably damaging	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
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
R2105:Kcnq2	UTSW	2	181081352	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- GCTTTAACCCGAGACTGCAATGC -3'
(R):5'- TTGTCCTGTGAGGCAGTACACCTG -3'

Sequencing Primer
(F):5'- GAGACTGCAATGCCACGAC -3'
(R):5'- ccgggccAGGTAGGAAC -3'

Posted On

2014-04-13