Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Kcnc3'

48104

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

038708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44240088-44254178 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 44245352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 547 (Y547*)

Ref Sequence

ENSEMBL: ENSMUSP00000146535 (fasta)

Gene Model

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

AlphaFold

Q63959

Predicted Effect

probably null
Transcript: ENSMUST00000107906
AA Change: Y547*

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: Y547*

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 null
Transcript: ENSMUST00000107907
AA Change: Y547*

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: Y547*

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

probably null
Transcript: ENSMUST00000207493
AA Change: Y547*

Predicted Effect

probably benign
Transcript: ENSMUST00000207497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208412

Predicted Effect

probably null
Transcript: ENSMUST00000208651
AA Change: Y547*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208849

Predicted Effect

probably null
Transcript: ENSMUST00000209177
AA Change: Y547*

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	probably 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
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
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'- GCCACCATGATCTACTATGCCGAAC -3'
(R):5'- AGGAGGCAATCCCATGATTCCCAG -3'

Sequencing Primer
(F):5'- TGATCCTGACGACATCCTGG -3'
(R):5'- CATGATTCCCAGGCCCC -3'

Posted On

2013-06-12