Mutagenetix > Incidental Mutation

Incidental Mutation 'R8544:Kcnc2'

659542

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

068509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112107026-112302929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112292101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 28 (I28F)

Ref Sequence

ENSEMBL: ENSMUSP00000151560 (fasta)

Gene Model

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

AlphaFold

Q14B80

Predicted Effect

probably damaging
Transcript: ENSMUST00000092175
AA Change: I430F

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

SMART Domains

Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: I430F

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: I28F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218827

Predicted Effect

probably damaging
Transcript: ENSMUST00000219301
AA Change: I430F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000219607

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (74/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	A	15: 37,425,979 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,832,461 (GRCm39)	L1171H	probably damaging	Het
Ace	A	T	11: 105,862,116 (GRCm39)		probably null	Het
Adsl	G	T	15: 80,832,734 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,585,890 (GRCm39)	M215T	probably benign	Het
Cabp2	A	T	19: 4,134,892 (GRCm39)	R77S	probably damaging	Het
Cast	A	T	13: 74,882,177 (GRCm39)	H40Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,358 (GRCm39)	Y946N	unknown	Het
Ccdc9b	C	T	2: 118,587,702 (GRCm39)	R544K	unknown	Het
Chst14	A	G	2: 118,758,010 (GRCm39)	Y268C	probably damaging	Het
Dennd1a	T	C	2: 37,872,920 (GRCm39)		probably null	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Entpd8	T	C	2: 24,973,856 (GRCm39)	V271A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fam234b	A	G	6: 135,210,287 (GRCm39)	Y561C	probably damaging	Het
Flg	A	G	3: 93,195,448 (GRCm39)		probably benign	Het
Galnt5	T	A	2: 57,907,160 (GRCm39)	M541K	probably damaging	Het
Gjd3	C	A	11: 98,873,488 (GRCm39)	E119*	probably null	Het
Gm266	T	C	12: 111,451,799 (GRCm39)	T136A	possibly damaging	Het
Gng11	G	A	6: 4,008,045 (GRCm39)	C36Y	possibly damaging	Het
Gse1	G	A	8: 121,280,391 (GRCm39)	V36I	probably damaging	Het
Hycc2	T	C	1: 58,568,981 (GRCm39)	T477A	probably benign	Het
Invs	A	T	4: 48,397,598 (GRCm39)	H335L	probably damaging	Het
Klhl40	C	T	9: 121,607,892 (GRCm39)	H351Y	probably damaging	Het
Kremen2	A	G	17: 23,961,201 (GRCm39)	L382P	probably benign	Het
Lenep	A	T	3: 89,309,784 (GRCm39)	C55S	possibly damaging	Het
Lrp12	A	T	15: 39,741,970 (GRCm39)	Y248*	probably null	Het
Man2c1	A	G	9: 57,038,325 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,376 (GRCm39)	M32T	possibly damaging	Het
Mnt	A	G	11: 74,722,218 (GRCm39)	R22G	probably damaging	Het
Mroh1	G	T	15: 76,327,558 (GRCm39)	E1127*	probably null	Het
Mtmr4	A	G	11: 87,502,735 (GRCm39)	R930G	possibly damaging	Het
Nalcn	A	G	14: 123,608,935 (GRCm39)	V644A	probably benign	Het
Ngf	G	T	3: 102,427,991 (GRCm39)	V247F	probably damaging	Het
Ninj2	A	G	6: 120,175,018 (GRCm39)	Y63C	probably damaging	Het
Or4c121	T	C	2: 89,024,312 (GRCm39)	E22G	possibly damaging	Het
Or51g2	A	T	7: 102,622,938 (GRCm39)	I87N	probably damaging	Het
Phf12	A	C	11: 77,918,235 (GRCm39)	I816L	probably damaging	Het
Pkhd1	C	A	1: 20,593,199 (GRCm39)	G1638V	probably damaging	Het
Plce1	T	A	19: 38,512,903 (GRCm39)	S67R	probably benign	Het
Plekhf1	A	G	7: 37,920,768 (GRCm39)	F267L	probably damaging	Het
Poc1b	A	T	10: 98,960,770 (GRCm39)	K60*	probably null	Het
Ppic	G	A	18: 53,544,612 (GRCm39)	T66M	probably damaging	Het
Prep	G	T	10: 45,029,223 (GRCm39)	G541V	probably damaging	Het
Rasal3	C	T	17: 32,611,093 (GRCm39)	V947I	probably benign	Het
Rbl1	T	C	2: 157,035,124 (GRCm39)	R319G	probably damaging	Het
Rbm34	A	G	8: 127,696,821 (GRCm39)	S94P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sacm1l	T	C	9: 123,406,123 (GRCm39)		probably null	Het
Scaf8	T	C	17: 3,213,295 (GRCm39)		probably benign	Het
Scrn1	T	A	6: 54,499,841 (GRCm39)	T215S	probably benign	Het
Sfrp4	A	G	13: 19,816,336 (GRCm39)		probably null	Het
Slc37a3	T	C	6: 39,321,297 (GRCm39)	I406V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sptbn1	C	A	11: 30,169,750 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,342,114 (GRCm39)	Y275H	probably damaging	Het
Stab1	A	T	14: 30,885,008 (GRCm39)	C137*	probably null	Het
Svep1	A	G	4: 58,206,025 (GRCm39)	S118P	probably benign	Het
Tbx6	A	G	7: 126,380,656 (GRCm39)		probably null	Het
Tril	C	T	6: 53,796,295 (GRCm39)	S309N	possibly damaging	Het
Trmt13	A	G	3: 116,386,094 (GRCm39)		probably null	Het
Trpm1	T	A	7: 63,874,356 (GRCm39)		probably null	Het
Tyr	T	C	7: 87,142,000 (GRCm39)	T110A	probably benign	Het
Upf1	A	C	8: 70,789,702 (GRCm39)	F711C	probably damaging	Het
Usp5	A	T	6: 124,800,480 (GRCm39)	V267D	probably damaging	Het
Virma	C	A	4: 11,516,949 (GRCm39)	D714E	probably benign	Het
Vmn2r115	A	C	17: 23,564,773 (GRCm39)	Q220P	possibly damaging	Het
Vmn2r40	T	C	7: 8,911,191 (GRCm39)	I701V		Het
Vwde	T	A	6: 13,187,652 (GRCm39)	M612L	probably benign	Het
Wwox	A	G	8: 115,215,646 (GRCm39)	T140A	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zbtb9	T	A	17: 27,193,448 (GRCm39)	C284*	probably null	Het
Zdhhc12	C	A	2: 29,983,486 (GRCm39)	A39S	probably benign	Het
Zfp532	T	A	18: 65,758,227 (GRCm39)	I720K	possibly damaging	Het
Zfp595	G	A	13: 67,465,244 (GRCm39)	R340C	probably damaging	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
R1474:Kcnc2	UTSW	10	112,292,305 (GRCm39)	missense	probably damaging	1.00
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
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'- AGAATCTTCAAGCTCACCCG -3'
(R):5'- GAAGTTTCTGCTTCGCCATTG -3'

Sequencing Primer
(F):5'- CCGCCATTTCGTAGGTCTGAG -3'
(R):5'- TTCGCCATTGCCAAGGAGTAGTAC -3'

Posted On

2021-01-18