Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Kcnc3'

649354

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

045991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44240088-44254178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44245569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 620 (T620S)

Ref Sequence

ENSEMBL: ENSMUSP00000103539 (fasta)

Gene Model

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

AlphaFold

Q63959

Predicted Effect

probably benign
Transcript: ENSMUST00000107906
AA Change: T620S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: T620S

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 benign
Transcript: ENSMUST00000107907
AA Change: T620S

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: T620S

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: T620S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000208651
AA Change: T620S

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209177
AA Change: T620S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		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
R4597:Kcnc3	UTSW	7	44,245,240 (GRCm39)	missense	probably damaging	1.00
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
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'- CGGCATGTACTATTCACTGGC -3'
(R):5'- CCCTACTCTGCCTGAACCTAAG -3'

Sequencing Primer
(F):5'- GCATGTACTATTCACTGGCTATGGC -3'
(R):5'- TCTGCCTGAACCTAAGAAACCCTG -3'

Posted On

2020-09-15