Mutagenetix > Incidental Mutation

Incidental Mutation 'R1474:Kcnc2'

163931

Institutional Source

Beutler Lab

Gene Symbol

Kcnc2

Ensembl Gene

ENSMUSG00000035681

Gene Name

potassium voltage gated channel, Shaw-related subfamily, member 2

Synonyms

Kv3.2, KShIIIA

MMRRC Submission

039527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112107026-112302929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112292305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 49 (K49E)

Ref Sequence

ENSEMBL: ENSMUSP00000151870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]

AlphaFold

Q14B80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092175
AA Change: K498E

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: K498E

Domain	Start	End	E-Value	Type
BTB	8	163	2.53e-17	SMART
Pfam:Ion_trans	232	488	1e-46	PFAM
Pfam:Ion_trans_2	388	481	5.8e-13	PFAM
low complexity region	552	568	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218445
AA Change: K96E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218827
AA Change: K20E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219301
AA Change: K498E

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219607
AA Change: K49E

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

Meta Mutation Damage Score

0.2733

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

95% (104/110)

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,960,635 (GRCm39)	A628S	probably damaging	Het
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ada	C	T	2: 163,574,814 (GRCm39)	A108T	possibly damaging	Het
Adam6a	T	A	12: 113,508,069 (GRCm39)	D147E	possibly damaging	Het
Ampd1	A	T	3: 103,006,154 (GRCm39)	T655S	probably damaging	Het
Ankk1	A	G	9: 49,327,139 (GRCm39)	F680S	probably damaging	Het
Asap1	G	A	15: 63,991,869 (GRCm39)	T783I	probably benign	Het
Astn1	T	A	1: 158,329,923 (GRCm39)	N259K	probably damaging	Het
Birc6	T	C	17: 74,886,673 (GRCm39)	V667A	probably damaging	Het
Brat1	G	A	5: 140,698,382 (GRCm39)	V185I	probably benign	Het
Btnl6	T	C	17: 34,732,620 (GRCm39)	Y318C	probably damaging	Het
Caskin2	G	A	11: 115,694,522 (GRCm39)	P360S	probably benign	Het
Ccdc121rt3	T	C	5: 112,503,642 (GRCm39)	T21A	probably benign	Het
Cd68	T	A	11: 69,555,754 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,952,355 (GRCm39)		probably benign	Het
Cdk6	G	A	5: 3,523,217 (GRCm39)	M212I	probably benign	Het
Ceacam5	T	A	7: 17,481,159 (GRCm39)	F302Y	probably damaging	Het
Celsr2	T	C	3: 108,301,055 (GRCm39)	E2746G	possibly damaging	Het
Clec4a4	G	A	6: 122,989,703 (GRCm39)	V115I	probably benign	Het
Clip3	C	A	7: 29,998,307 (GRCm39)	A251E	possibly damaging	Het
Cmah	T	C	13: 24,623,180 (GRCm39)	L350P	probably damaging	Het
Cntnap5a	C	T	1: 116,370,103 (GRCm39)	R907*	probably null	Het
Cntnap5b	T	C	1: 99,999,814 (GRCm39)	Y191H	probably benign	Het
Col4a4	A	T	1: 82,458,207 (GRCm39)	C1122*	probably null	Het
Coq5	A	G	5: 115,433,842 (GRCm39)		probably benign	Het
Cpxcr1	A	G	X: 115,387,136 (GRCm39)	K16E	possibly damaging	Het
Dclk3	T	C	9: 111,298,304 (GRCm39)	I616T	probably benign	Het
Dhrs3	A	T	4: 144,646,057 (GRCm39)	T122S	probably damaging	Het
Dnm1	T	C	2: 32,210,596 (GRCm39)	I502V	probably benign	Het
Dscaml1	G	T	9: 45,596,519 (GRCm39)	G788W	probably damaging	Het
Dusp10	C	T	1: 183,769,645 (GRCm39)		probably null	Het
Ehbp1l1	C	A	19: 5,769,112 (GRCm39)	L730F	possibly damaging	Het
Eif2ak1	C	T	5: 143,808,785 (GRCm39)	H75Y	probably damaging	Het
Evi2a	T	C	11: 79,418,398 (GRCm39)	T71A	probably benign	Het
Fam184a	A	T	10: 53,511,461 (GRCm39)	S1073T	probably damaging	Het
Fam227a	T	C	15: 79,499,582 (GRCm39)	Y591C	probably damaging	Het
Fam83a	C	T	15: 57,873,272 (GRCm39)	T367M	probably benign	Het
Fam83g	A	G	11: 61,593,819 (GRCm39)	D451G	probably damaging	Het
Fbn1	A	G	2: 125,203,185 (GRCm39)	F1213L	possibly damaging	Het
Fcgbp	G	A	7: 27,791,273 (GRCm39)	V845I	probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxn1	T	A	11: 78,251,933 (GRCm39)	M433L	probably benign	Het
Gm6632	T	G	5: 59,211,679 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,738,418 (GRCm39)		probably benign	Het
Hhipl1	C	T	12: 108,277,996 (GRCm39)	T108I	probably damaging	Het
Hs2st1	A	T	3: 144,141,256 (GRCm39)	F271I	possibly damaging	Het
Ido1	T	C	8: 25,074,462 (GRCm39)	S303G	probably damaging	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Kif3b	T	A	2: 153,162,235 (GRCm39)	V482E	probably damaging	Het
Ldlrad2	G	A	4: 137,299,525 (GRCm39)	P100S	probably benign	Het
Lrba	G	T	3: 86,687,573 (GRCm39)		probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mob3a	A	T	10: 80,522,988 (GRCm39)	M215K	probably benign	Het
Mterf1b	T	G	5: 4,247,163 (GRCm39)	L268R	probably damaging	Het
Mvk	T	C	5: 114,598,157 (GRCm39)	F365L	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Myo1f	G	T	17: 33,813,001 (GRCm39)	K602N	possibly damaging	Het
Nr2c2ap	A	T	8: 70,585,765 (GRCm39)	M108L	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Ogfrl1	A	G	1: 23,414,890 (GRCm39)	F206L	probably damaging	Het
Ola1	A	T	2: 72,987,188 (GRCm39)	I148N	probably damaging	Het
Or14c46	G	T	7: 85,918,270 (GRCm39)	H242Q	probably damaging	Het
Or4d10b	T	A	19: 12,036,844 (GRCm39)	T91S	probably benign	Het
Or51f1d	A	G	7: 102,701,288 (GRCm39)	Y261C	probably damaging	Het
Or6c2	A	T	10: 129,362,824 (GRCm39)	M243L	probably benign	Het
Or9m2	A	G	2: 87,821,334 (GRCm39)	N293S	probably damaging	Het
Otof	A	G	5: 30,536,876 (GRCm39)		probably null	Het
Pah	G	T	10: 87,414,175 (GRCm39)	K341N	probably damaging	Het
Pfdn5	T	A	15: 102,236,946 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,216,202 (GRCm39)	C960R	probably damaging	Het
Pitx2	T	C	3: 129,012,488 (GRCm39)	V306A	probably damaging	Het
Pkd1l2	C	A	8: 117,792,236 (GRCm39)		probably benign	Het
Plekho1	T	C	3: 95,896,878 (GRCm39)	E197G	probably damaging	Het
Polr2i	A	G	7: 29,932,227 (GRCm39)	N34S	probably damaging	Het
Psph	A	T	5: 129,848,614 (GRCm39)	D22E	probably damaging	Het
Ptprs	C	A	17: 56,731,128 (GRCm39)	A687S	probably damaging	Het
Ralgapa1	T	C	12: 55,788,265 (GRCm39)	K606R	probably benign	Het
Rigi	A	G	4: 40,208,868 (GRCm39)	V703A	possibly damaging	Het
Rims1	A	G	1: 22,577,362 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,576 (GRCm39)	P2002L	probably damaging	Het
Ryr3	A	T	2: 112,740,307 (GRCm39)	C555S	probably damaging	Het
Sftpd	C	A	14: 40,894,384 (GRCm39)	G345V	probably damaging	Het
Slc41a1	T	A	1: 131,774,319 (GRCm39)	M462K	probably damaging	Het
Slc44a2	A	G	9: 21,264,990 (GRCm39)	E676G	probably damaging	Het
Sox6	T	A	7: 115,300,926 (GRCm39)		probably benign	Het
Spdye4b	G	A	5: 143,181,472 (GRCm39)	R109Q	probably damaging	Het
Spef1l	C	A	7: 139,556,555 (GRCm39)	R144L	probably benign	Het
Spink8	A	T	9: 109,649,706 (GRCm39)	I63L	probably damaging	Het
St3gal3	A	G	4: 117,871,983 (GRCm39)	L73P	probably damaging	Het
Stab1	A	G	14: 30,871,818 (GRCm39)	L1247P	probably benign	Het
Tat	A	G	8: 110,718,195 (GRCm39)	R27G	probably benign	Het
Tcerg1l	C	T	7: 137,881,804 (GRCm39)	R295H	probably damaging	Het
Tfrc	T	C	16: 32,445,467 (GRCm39)	V596A	probably damaging	Het
Tgfb3	C	T	12: 86,116,120 (GRCm39)		probably null	Het
Tmed5	A	T	5: 108,280,248 (GRCm39)	S15T	probably benign	Het
Tph1	A	T	7: 46,303,286 (GRCm39)	S231T	probably benign	Het
Trim30d	G	A	7: 104,121,701 (GRCm39)	S198L	probably damaging	Het
Trpm6	T	C	19: 18,773,859 (GRCm39)	M412T	probably benign	Het
Ttn	G	T	2: 76,612,589 (GRCm39)	D15417E	probably benign	Het
U2surp	A	G	9: 95,375,251 (GRCm39)	I157T	possibly damaging	Het
Ubr4	A	G	4: 139,156,890 (GRCm39)	D2305G	probably damaging	Het
Uvssa	A	G	5: 33,546,165 (GRCm39)	K179E	probably benign	Het
Vps35l	T	C	7: 118,359,436 (GRCm39)	F230S	probably damaging	Het
Xirp2	A	G	2: 67,355,411 (GRCm39)	K3391E	probably benign	Het
Xpo7	T	A	14: 70,936,473 (GRCm39)	H170L	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,404 (GRCm39)	W393R	probably benign	Het

Other mutations in Kcnc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Kcnc2	APN	10	112,297,892 (GRCm39)	missense	probably benign	0.04
IGL00595:Kcnc2	APN	10	112,297,893 (GRCm39)	missense	probably damaging	0.99
IGL01646:Kcnc2	APN	10	112,108,311 (GRCm39)	critical splice donor site	probably null
IGL01950:Kcnc2	APN	10	112,297,980 (GRCm39)	intron	probably benign
IGL02036:Kcnc2	APN	10	112,291,831 (GRCm39)	missense	possibly damaging	0.94
IGL02164:Kcnc2	APN	10	112,291,590 (GRCm39)	missense	possibly damaging	0.92
IGL02447:Kcnc2	APN	10	112,291,851 (GRCm39)	missense	probably damaging	1.00
IGL03087:Kcnc2	APN	10	112,291,652 (GRCm39)	missense	probably benign	0.19
IGL03385:Kcnc2	APN	10	112,291,691 (GRCm39)	missense	probably damaging	1.00
R0133:Kcnc2	UTSW	10	112,294,502 (GRCm39)	missense	probably damaging	1.00
R1444:Kcnc2	UTSW	10	112,291,506 (GRCm39)	unclassified	probably benign
R2221:Kcnc2	UTSW	10	112,292,431 (GRCm39)	missense	probably damaging	1.00
R4504:Kcnc2	UTSW	10	112,291,699 (GRCm39)	missense	probably damaging	1.00
R4714:Kcnc2	UTSW	10	112,291,733 (GRCm39)	missense	possibly damaging	0.82
R4935:Kcnc2	UTSW	10	112,108,133 (GRCm39)	missense	probably benign	0.00
R6168:Kcnc2	UTSW	10	112,291,661 (GRCm39)	missense	probably benign	0.13
R6338:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6375:Kcnc2	UTSW	10	112,299,094 (GRCm39)	missense	possibly damaging	0.92
R6511:Kcnc2	UTSW	10	112,297,972 (GRCm39)	intron	probably benign
R6516:Kcnc2	UTSW	10	112,297,905 (GRCm39)	missense	probably benign	0.00
R6556:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6609:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6610:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6612:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6837:Kcnc2	UTSW	10	112,294,407 (GRCm39)	missense	probably damaging	0.96
R7151:Kcnc2	UTSW	10	112,294,414 (GRCm39)	missense	possibly damaging	0.46
R7715:Kcnc2	UTSW	10	112,107,845 (GRCm39)	nonsense	probably null
R8506:Kcnc2	UTSW	10	112,291,537 (GRCm39)	missense	probably damaging	1.00
R8544:Kcnc2	UTSW	10	112,292,101 (GRCm39)	missense	probably damaging	1.00
R8782:Kcnc2	UTSW	10	112,292,437 (GRCm39)	missense	probably benign	0.00
R9013:Kcnc2	UTSW	10	112,107,723 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnc2	UTSW	10	112,108,211 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGAATCTTCAAGCTCACCCGCC -3'
(R):5'- TGCAATCGCACCTTACCTGATCTG -3'

Sequencing Primer
(F):5'- GCTACGATGATCTACTACGCTGAG -3'
(R):5'- GATCTGTTATGTTCCAGAAGCC -3'

Posted On

2014-03-28