Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Kcnq3'

188307

Institutional Source

Beutler Lab

Gene Symbol

Kcnq3

Ensembl Gene

ENSMUSG00000056258

Gene Name

potassium voltage-gated channel, subfamily Q, member 3

Synonyms

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65858236-66158491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65903281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 143 (L143P)

Ref Sequence

ENSEMBL: ENSMUSP00000063380 (fasta)

Gene Model

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

AlphaFold

Q8K3F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070256
AA Change: L143P

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

SMART Domains

Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: L143P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183354

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239 (GRCm38)	F515L	probably damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,161,087 (GRCm39)	N143I	probably damaging	Het
Dmd	T	A	X: 84,018,368 (GRCm39)	I3067N	probably benign	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sctr	G	T	1: 119,964,169 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tcp1	T	A	17: 13,139,310 (GRCm39)	N212K	probably benign	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	probably benign	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
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
R9189:Kcnq3	UTSW	15	65,867,510 (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'- AGCTTTTGAGCCAGCCATTGCC -3'
(R):5'- AAGCATGTGACACTACACTGTCCAG -3'

Sequencing Primer
(F):5'- TCTGTCCAGAACAGTGGATCATC -3'
(R):5'- TTGTAATTGCCTGCTGCACC -3'

Posted On

2014-05-09