Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Kcnc3'

661385

Institutional Source

Beutler Lab

Gene Symbol

Kcnc3

Ensembl Gene

ENSMUSG00000062785

Gene Name

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

Synonyms

Kcr2-3, KShIIID, Kv3.3

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44590664-44604754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44591596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 237 (D237E)

Ref Sequence

ENSEMBL: ENSMUSP00000103539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208651] [ENSMUST00000209177]

AlphaFold

Q63959

Predicted Effect

probably benign
Transcript: ENSMUST00000002274

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Asp	72	396	6.6e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107906
AA Change: D237E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: D237E

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: D237E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: D237E

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

unknown
Transcript: ENSMUST00000207493
AA Change: D237E

Predicted Effect

probably benign
Transcript: ENSMUST00000207497

Predicted Effect

probably benign
Transcript: ENSMUST00000208651
AA Change: D237E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000209177
AA Change: D237E

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	Het

Other mutations in Kcnc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Kcnc3	APN	7	44595386	missense	probably damaging	1.00
IGL01607:Kcnc3	APN	7	44591304	missense	probably damaging	1.00
IGL02397:Kcnc3	APN	7	44595794	missense	probably damaging	1.00
IGL02807:Kcnc3	APN	7	44595957	missense	probably damaging	1.00
IGL02961:Kcnc3	APN	7	44591492	missense	probably damaging	0.99
elfen	UTSW	7	44591296	frame shift	probably null
Le_fitness	UTSW	7	44595182	missense	possibly damaging	0.92
Svelte	UTSW	7	44595816	missense	probably damaging	1.00
Trim	UTSW	7	44595603	missense	probably damaging	1.00
R0514:Kcnc3	UTSW	7	44595928	nonsense	probably null
R0827:Kcnc3	UTSW	7	44595206	missense	probably damaging	0.99
R1514:Kcnc3	UTSW	7	44595603	missense	probably damaging	1.00
R2875:Kcnc3	UTSW	7	44591537	nonsense	probably null
R4597:Kcnc3	UTSW	7	44595816	missense	probably damaging	1.00
R4954:Kcnc3	UTSW	7	44591296	frame shift	probably null
R4955:Kcnc3	UTSW	7	44591296	frame shift	probably null
R6012:Kcnc3	UTSW	7	44598872	missense	probably benign	0.26
R6093:Kcnc3	UTSW	7	44591508	missense	probably benign	0.44
R6488:Kcnc3	UTSW	7	44595182	missense	possibly damaging	0.92
R7542:Kcnc3	UTSW	7	44595714	missense	possibly damaging	0.84
R7595:Kcnc3	UTSW	7	44591469	missense	probably damaging	1.00
R7909:Kcnc3	UTSW	7	44595687	missense	probably damaging	1.00
R7946:Kcnc3	UTSW	7	44596145	missense	probably benign	0.13
R9156:Kcnc3	UTSW	7	44591168	missense	probably damaging	0.99
R9396:Kcnc3	UTSW	7	44591513	missense	possibly damaging	0.57
R9545:Kcnc3	UTSW	7	44595933	missense	probably damaging	1.00
Z1177:Kcnc3	UTSW	7	44596106	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGGGGCATAGACGAGAC -3'
(R):5'- GAAGGGCTTCCAGAGAACTG -3'

Sequencing Primer
(F):5'- CATAGACGAGACGGACGTG -3'
(R):5'- ACACTGGGATGGAGTGCTC -3'

Posted On

2021-03-08