Mutagenetix > Incidental Mutations

Incidental Mutation 'R6207:Kcnq2'

503176

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

044341-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181075579-181135300 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181113233 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 174 (M174V)

Ref Sequence

ENSEMBL: ENSMUSP00000099340 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000016491
AA Change: M174V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: M174V

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
AA Change: M174V

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: M174V

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
AA Change: M174V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: M174V

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
AA Change: M174V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: M174V

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
AA Change: M174V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: M174V

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: M117V

SMART Domains

Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: M117V

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: M174V

SMART Domains

Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: M174V

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

possibly damaging
Transcript: ENSMUST00000103051
AA Change: M174V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: M174V

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

probably benign
Transcript: ENSMUST00000129695
AA Change: M60V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: M60V

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: 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

probably benign
Transcript: ENSMUST00000149964
AA Change: M174V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: M174V

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 benign
Transcript: ENSMUST00000197015
AA Change: M174V

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: M174V

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: 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

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

probably benign
Transcript: ENSMUST00000197599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140789

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,830,893	P69S	probably damaging	Het
Abca15	A	G	7: 120,373,794	R864G	probably benign	Het
Acbd5	T	C	2: 23,069,478	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,777,390		probably null	Het
Ak3	T	A	19: 29,022,940	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,206,614		probably null	Het
Calcrl	T	C	2: 84,333,530	H439R	probably benign	Het
Casp7	T	A	19: 56,441,020	D279E	possibly damaging	Het
Cckar	A	G	5: 53,699,844	V337A	probably benign	Het
Cep85l	T	C	10: 53,281,555	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Homo
Commd7	T	C	2: 153,632,610	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,294,773	I365F	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dot1l	C	T	10: 80,786,443	A831V	probably benign	Het
Epcam	C	A	17: 87,640,436	N111K	probably damaging	Het
Etnk1	A	G	6: 143,180,798	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,281,950	E221V	probably damaging	Het
Fam189a2	T	C	19: 23,973,438	E593G	probably damaging	Het
Fbl	T	C	7: 28,174,853	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,896,530	Y82*	probably null	Het
Fer1l5	A	G	1: 36,385,160	K285R	probably damaging	Het
Foxn3	G	T	12: 99,196,310	T444K	probably damaging	Het
Gak	C	T	5: 108,625,029		probably null	Het
Gprc6a	T	C	10: 51,626,835	I311V	probably benign	Het
Hrg	T	C	16: 22,954,538		probably null	Het
Htatip2	G	A	7: 49,770,819	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,487,522		probably benign	Het
Krt39	G	T	11: 99,521,215	P15Q	probably damaging	Het
L1td1	G	A	4: 98,737,418	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,829,382	K88*	probably null	Het
Lims1	A	T	10: 58,394,564	K49M	possibly damaging	Het
Man2a1	T	C	17: 64,713,605	V792A	probably benign	Het
Mcm2	G	T	6: 88,885,862	D749E	probably benign	Het
Mdga1	G	A	17: 29,838,517	T775M	probably damaging	Het
Myb	A	G	10: 21,145,322	S403P	probably benign	Het
Nek6	T	C	2: 38,557,834	S37P	possibly damaging	Het
Olfr149	T	C	9: 39,702,310	H153R	probably benign	Het
Olfr310	A	C	7: 86,269,760	F10V	probably damaging	Het
Olfr622	A	G	7: 103,640,002	V46A	probably benign	Het
Olfr663	G	A	7: 104,703,611	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Prune2	T	A	19: 17,118,116	I328N	probably damaging	Het
Psap	T	A	10: 60,300,538	C484S	probably damaging	Het
Pus1	T	C	5: 110,777,714	D80G	probably benign	Het
Rasa3	T	C	8: 13,598,251	T138A	possibly damaging	Het
Scaf1	G	T	7: 45,007,623		probably benign	Het
Skap1	T	A	11: 96,704,133	Y143*	probably null	Het
Slc22a20	A	G	19: 5,985,941	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,329,064	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,189,125	T154I	possibly damaging	Het
Snai1	T	A	2: 167,538,309	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,210,735	M84K	probably benign	Het
Spop	G	T	11: 95,471,237	K31N	possibly damaging	Het
Surf1	T	C	2: 26,914,807	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,146,339	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,055,837	A67V	probably damaging	Het
Timd4	A	T	11: 46,815,526	M52L	probably damaging	Het
Trav16	A	T	14: 53,743,588	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,908	T147A	probably damaging	Het
Tulp1	A	T	17: 28,358,677		probably benign	Het
Ubqlnl	A	T	7: 104,148,708	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,421,248	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,758,628	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,406,505	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 42,260,192	H47L	probably benign	Het
Vwa5a	A	G	9: 38,722,672	E57G	probably damaging	Het
Zfp180	A	T	7: 24,105,085	R310*	probably null	Het
Zfp672	T	C	11: 58,317,523		probably benign	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
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
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'- AAGTCATGGTAAACAGCAGGCTC -3'
(R):5'- TCTTGGGAGGGAGACACAGTAC -3'

Sequencing Primer
(F):5'- GGTCAGTGCTGCTCACCTTG -3'
(R):5'- AGACACAGTACTGGGCAGTCTC -3'

Posted On

2018-02-27