Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Kcnc4'

249357

Institutional Source

Beutler Lab

Gene Symbol

Kcnc4

Ensembl Gene

ENSMUSG00000027895

Gene Name

potassium voltage gated channel, Shaw-related subfamily, member 4

Synonyms

Kcr2-4, Kv3.4

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107438303-107459552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107445547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 572 (P572T)

Ref Sequence

ENSEMBL: ENSMUSP00000009617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009617]

AlphaFold

Q8R1C0

Predicted Effect

probably benign
Transcript: ENSMUST00000009617
AA Change: P572T

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: P572T

Domain	Start	End	E-Value	Type
Pfam:Potassium_chann	1	29	3e-23	PFAM
BTB	36	155	4.66e-16	SMART
low complexity region	168	185	N/A	INTRINSIC
low complexity region	194	211	N/A	INTRINSIC
Pfam:Ion_trans	229	487	2.6e-46	PFAM
Pfam:Ion_trans_2	386	480	3e-12	PFAM
low complexity region	489	505	N/A	INTRINSIC

Meta Mutation Damage Score

0.4481

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
4933409G03Rik	A	T	2: 68,591,520	N47I	probably benign	Het
Actr5	T	C	2: 158,636,081	F457S	probably damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adck2	C	T	6: 39,583,998	A440V	possibly damaging	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,339,159	C186R	probably benign	Het
Cdk12	T	G	11: 98,219,074	S640R	probably benign	Het
Cdv3	T	C	9: 103,365,118		probably benign	Het
Celf2	G	A	2: 6,553,889	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,222,781	S574R	probably benign	Het
Col14a1	T	C	15: 55,449,922	L56P	unknown	Het
Dctn1	C	T	6: 83,199,800	L1241F	possibly damaging	Het
Depdc5	T	C	5: 32,991,035	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,561,094		probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Entpd7	A	T	19: 43,728,088	Y507F	possibly damaging	Het
Fbp1	T	C	13: 62,871,306	K24E	probably benign	Het
Galr1	A	T	18: 82,405,923	N76K	probably damaging	Het
Glrb	A	G	3: 80,860,235	I226T	probably damaging	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm4950	T	A	18: 51,865,784	Q33L	probably benign	Het
Gm5415	C	T	1: 32,545,861	A323T	possibly damaging	Het
Gm6583	A	T	5: 112,355,118	V240D	probably damaging	Het
Gnat2	A	T	3: 108,095,539	M88L	probably damaging	Het
Gpr183	A	G	14: 121,954,177	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Hipk3	C	T	2: 104,471,485	G121R	probably benign	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Homez	C	A	14: 54,857,574	V226F	probably benign	Het
Inf2	C	A	12: 112,610,824	A1034D	unknown	Het
Kmt2d	T	C	15: 98,862,266	E1037G	unknown	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,765	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Nek1	T	C	8: 61,019,901	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,362,945	D876V	probably benign	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr235	A	T	19: 12,268,919	T230S	probably damaging	Het
Olfr740	T	C	14: 50,453,436	L128P	probably damaging	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pcdha11	G	T	18: 37,007,272	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Plxnb1	G	A	9: 109,108,438	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Pum2	A	T	12: 8,748,931	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,124,344	E67G	probably damaging	Het
Rgs9	C	A	11: 109,225,777		probably null	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Snx33	C	A	9: 56,918,538	M546I	probably benign	Het
Spag17	T	A	3: 100,027,619	W714R	probably benign	Het
Spata2	C	T	2: 167,484,206	R231Q	probably damaging	Het
Stard9	C	T	2: 120,700,284	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,855,594	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,770,005	E110G	probably damaging	Het
Tmem102	T	A	11: 69,804,537	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Wdr77	A	T	3: 105,960,021	K62*	probably null	Het
Zfhx4	C	A	3: 5,390,405	A1153E	probably benign	Het
Zfp266	C	A	9: 20,499,262	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,966,439		probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,815,277	T141I	probably benign	Het

Other mutations in Kcnc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnc4	APN	3	107447873	missense	probably benign	0.01
IGL00899:Kcnc4	APN	3	107458463	missense	possibly damaging	0.94
IGL01755:Kcnc4	APN	3	107448175	missense	probably damaging	1.00
IGL01895:Kcnc4	APN	3	107448218	missense	probably benign	0.01
IGL02741:Kcnc4	APN	3	107447978	missense	probably damaging	0.98
IGL03393:Kcnc4	APN	3	107447927	missense	possibly damaging	0.75
PIT4151001:Kcnc4	UTSW	3	107458703	missense	probably damaging	1.00
PIT4378001:Kcnc4	UTSW	3	107447563	missense	probably benign
R0158:Kcnc4	UTSW	3	107458604	missense	probably benign	0.21
R0415:Kcnc4	UTSW	3	107445433	missense	probably damaging	1.00
R0704:Kcnc4	UTSW	3	107447963	missense	possibly damaging	0.92
R0747:Kcnc4	UTSW	3	107448154	missense	probably damaging	1.00
R1481:Kcnc4	UTSW	3	107448218	missense	probably benign	0.02
R1540:Kcnc4	UTSW	3	107445427	splice site	probably null
R1602:Kcnc4	UTSW	3	107448204	missense	possibly damaging	0.96
R3750:Kcnc4	UTSW	3	107448190	missense	probably benign	0.36
R4791:Kcnc4	UTSW	3	107447543	missense	probably benign	0.32
R4815:Kcnc4	UTSW	3	107458266	missense	probably benign	0.37
R5216:Kcnc4	UTSW	3	107439441	missense	probably benign
R5259:Kcnc4	UTSW	3	107448085	missense	probably damaging	1.00
R5317:Kcnc4	UTSW	3	107458739	missense	probably damaging	0.98
R5474:Kcnc4	UTSW	3	107447891	missense	possibly damaging	0.82
R5783:Kcnc4	UTSW	3	107447872	missense	possibly damaging	0.69
R5865:Kcnc4	UTSW	3	107458199	critical splice donor site	probably null
R6228:Kcnc4	UTSW	3	107448377	missense	probably damaging	0.99
R6536:Kcnc4	UTSW	3	107448196	missense	possibly damaging	0.81
R7018:Kcnc4	UTSW	3	107458862	missense	probably benign	0.00
R7319:Kcnc4	UTSW	3	107458784	missense	probably benign	0.21
R7687:Kcnc4	UTSW	3	107458609	small insertion	probably benign
R8436:Kcnc4	UTSW	3	107458768	missense	probably damaging	0.96
R8707:Kcnc4	UTSW	3	107448133	missense	possibly damaging	0.76
R8844:Kcnc4	UTSW	3	107448080	missense	probably damaging	1.00
R8868:Kcnc4	UTSW	3	107448136	missense	probably damaging	1.00
R9542:Kcnc4	UTSW	3	107458255	nonsense	probably null
X0020:Kcnc4	UTSW	3	107447651	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TCCATTCTAAAAGCGAGGGC -3'
(R):5'- GATCCTTCAGACCAAGCACAGG -3'

Sequencing Primer
(F):5'- CTCAAGCTCTGAGGGGAGG -3'
(R):5'- GCCTTTGCTTCCAGGACCTG -3'

Posted On

2014-11-12