Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:Kcnc3'

344445

Institutional Source

Beutler Lab

Gene Symbol

Kcnc3

Ensembl Gene

ENSMUSG00000062785

Gene Name

potassium voltage gated channel, Shaw-related subfamily, member 3

Synonyms

KShIIID, Kv3.3, Kcr2-3

MMRRC Submission

041813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44240088-44254178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44245240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 510 (M510K)

Ref Sequence

ENSEMBL: ENSMUSP00000103540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000209177] [ENSMUST00000208651]

AlphaFold

Q63959

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071062
AA Change: M510K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069754
Gene: ENSMUSG00000062785
AA Change: M510K

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.4e-31	PFAM
Pfam:Ion_trans_2	450	544	2.2e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107905
AA Change: M510K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103538
Gene: ENSMUSG00000062785
AA Change: M510K

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.4e-31	PFAM
Pfam:Ion_trans_2	450	544	2.2e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107906
AA Change: M510K

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

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: M510K

Domain	Start	End	E-Value	Type
Pfam:Potassium_chann	1	21	8e-9	PFAM
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	290	551	4.1e-45	PFAM
Pfam:Ion_trans_2	451	544	8.2e-12	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC
low complexity region	750	767	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107907
AA Change: M510K

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

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: M510K

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.5e-31	PFAM
Pfam:Ion_trans_2	450	544	2.4e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	729	745	N/A	INTRINSIC
low complexity region	749	766	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207493
AA Change: M510K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000207497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208412

Predicted Effect

probably damaging
Transcript: ENSMUST00000209177
AA Change: M510K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208651
AA Change: M510K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208849

Meta Mutation Damage Score

0.9428

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

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 one of these subfamilies, namely 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. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Arl1	A	T	10: 88,566,608 (GRCm39)		probably benign	Het
Bcl3	T	G	7: 19,546,428 (GRCm39)	I136L	probably damaging	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H1f5	A	T	13: 21,964,681 (GRCm39)	V15E	probably damaging	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Myh2	A	C	11: 67,080,244 (GRCm39)	I1153L	probably benign	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Or7e169	T	C	9: 19,756,987 (GRCm39)	I309M	probably benign	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	possibly damaging	Het

Other mutations in Kcnc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Kcnc3	APN	7	44,244,810 (GRCm39)	missense	probably damaging	1.00
IGL01607:Kcnc3	APN	7	44,240,728 (GRCm39)	missense	probably damaging	1.00
IGL02397:Kcnc3	APN	7	44,245,218 (GRCm39)	missense	probably damaging	1.00
IGL02807:Kcnc3	APN	7	44,245,381 (GRCm39)	missense	probably damaging	1.00
IGL02961:Kcnc3	APN	7	44,240,916 (GRCm39)	missense	probably damaging	0.99
elfen	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
Le_fitness	UTSW	7	44,244,606 (GRCm39)	missense	possibly damaging	0.92
Svelte	UTSW	7	44,245,240 (GRCm39)	missense	probably damaging	1.00
Trim	UTSW	7	44,245,027 (GRCm39)	missense	probably damaging	1.00
R0514:Kcnc3	UTSW	7	44,245,352 (GRCm39)	nonsense	probably null
R0827:Kcnc3	UTSW	7	44,244,630 (GRCm39)	missense	probably damaging	0.99
R1514:Kcnc3	UTSW	7	44,245,027 (GRCm39)	missense	probably damaging	1.00
R2875:Kcnc3	UTSW	7	44,240,961 (GRCm39)	nonsense	probably null
R4954:Kcnc3	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
R4955:Kcnc3	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
R6012:Kcnc3	UTSW	7	44,248,296 (GRCm39)	missense	probably benign	0.26
R6093:Kcnc3	UTSW	7	44,240,932 (GRCm39)	missense	probably benign	0.44
R6488:Kcnc3	UTSW	7	44,244,606 (GRCm39)	missense	possibly damaging	0.92
R7542:Kcnc3	UTSW	7	44,245,138 (GRCm39)	missense	possibly damaging	0.84
R7595:Kcnc3	UTSW	7	44,240,893 (GRCm39)	missense	probably damaging	1.00
R7909:Kcnc3	UTSW	7	44,245,111 (GRCm39)	missense	probably damaging	1.00
R7946:Kcnc3	UTSW	7	44,245,569 (GRCm39)	missense	probably benign	0.13
R8676:Kcnc3	UTSW	7	44,241,020 (GRCm39)	missense	probably benign	0.06
R9156:Kcnc3	UTSW	7	44,240,592 (GRCm39)	missense	probably damaging	0.99
R9396:Kcnc3	UTSW	7	44,240,937 (GRCm39)	missense	possibly damaging	0.57
R9545:Kcnc3	UTSW	7	44,245,357 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnc3	UTSW	7	44,245,530 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATCTTCCTGGCTCTGGG -3'
(R):5'- AATCCCATGATTCCCAGGCC -3'

Sequencing Primer
(F):5'- GGGGGTCCTCATCTTTGCC -3'
(R):5'- ATTCACCCCCATGGAAGGAGG -3'

Posted On

2015-09-25