Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02682:Kcnd2'

303408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnd2

Ensembl Gene

ENSMUSG00000060882

Gene Name

potassium voltage-gated channel, Shal-related family, member 2

Synonyms

Kv4.2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL02682

Quality Score

Status

Chromosome

Chromosomal Location

21215503-21729805 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21216925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 209 (C209*)

Ref Sequence

ENSEMBL: ENSMUSP00000080257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081542]

AlphaFold

Q9Z0V2

Predicted Effect

probably null
Transcript: ENSMUST00000081542
AA Change: C209*

SMART Domains

Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: C209*

Domain	Start	End	E-Value	Type
Pfam:Shal-type	3	31	4.5e-16	PFAM
BTB	41	140	3.42e-14	SMART
Pfam:Ion_trans	184	417	1.4e-44	PFAM
Pfam:Ion_trans_2	330	411	5.5e-15	PFAM
low complexity region	418	437	N/A	INTRINSIC
Pfam:DUF3399	445	546	5.5e-44	PFAM
low complexity region	594	608	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,477,811	S113P	probably benign	Het
Arhgdib	A	T	6: 136,924,168	W188R	probably damaging	Het
Bcr	T	A	10: 75,166,046	N927K	possibly damaging	Het
Cd209c	A	G	8: 3,940,324	Y165H	probably damaging	Het
Cnnm2	A	G	19: 46,762,076	K102E	probably benign	Het
Col12a1	T	C	9: 79,699,341	E600G	probably damaging	Het
Ddx4	A	T	13: 112,622,186	H280Q	probably benign	Het
Eya4	T	C	10: 23,116,600	Y462C	probably damaging	Het
Fibcd1	T	A	2: 31,838,564	I94F	probably damaging	Het
Gm4846	C	A	1: 166,494,626	G124V	probably damaging	Het
Gm5624	A	G	14: 44,560,012	I108T	possibly damaging	Het
Gpr179	A	T	11: 97,351,865	M51K	probably benign	Het
Hck	A	G	2: 153,134,134	I198V	probably damaging	Het
Klhl1	T	A	14: 96,201,342	I507F	possibly damaging	Het
Knl1	A	T	2: 119,077,969	K1693N	possibly damaging	Het
Mcam	T	C	9: 44,140,417	V490A	possibly damaging	Het
Mrgprx1	A	T	7: 48,021,992	D2E	probably damaging	Het
Mtg1	T	C	7: 140,144,729		probably benign	Het
Myof	C	A	19: 37,921,481	R1512L	probably benign	Het
Nrp2	C	T	1: 62,771,837	T679I	probably benign	Het
Nwd2	C	A	5: 63,804,677	L535I	probably benign	Het
Nwd2	T	A	5: 63,804,678	L535H	probably damaging	Het
Olfr1307	T	A	2: 111,944,940	N172I	probably damaging	Het
Olfr1442	T	C	19: 12,674,669	S155P	probably damaging	Het
Olfr592	A	T	7: 103,187,014	I138F	probably damaging	Het
Phkb	A	G	8: 85,875,646	*41W	probably null	Het
Prl5a1	T	A	13: 28,145,420	N27K	probably benign	Het
Rims1	T	C	1: 22,288,484	T1292A	probably damaging	Het
Rnf38	G	A	4: 44,133,745	A376V	probably damaging	Het
Slc34a2	T	C	5: 53,059,238	V117A	possibly damaging	Het
Slfn8	A	T	11: 83,003,691	F707L	probably damaging	Het
Snx16	G	A	3: 10,438,175	P4L	probably damaging	Het
Snx6	T	C	12: 54,754,345	D289G	probably damaging	Het
St8sia3	G	T	18: 64,269,679	V130F	probably damaging	Het
U2surp	A	G	9: 95,481,651		probably null	Het
Ubqln3	A	G	7: 104,142,065	F273L	probably benign	Het
Vmn2r101	A	T	17: 19,612,245	R834S	possibly damaging	Het
Vmn2r18	G	T	5: 151,584,637	H341N	probably damaging	Het
Vrk3	A	G	7: 44,753,820	I2V	probably benign	Het
Zglp1	A	G	9: 21,066,238	S94P	probably benign	Het

Other mutations in Kcnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Kcnd2	APN	6	21714154	missense	possibly damaging	0.90
IGL01124:Kcnd2	APN	6	21217217	missense	probably damaging	1.00
IGL01317:Kcnd2	APN	6	21727340	makesense	probably null
IGL01534:Kcnd2	APN	6	21726145	missense	probably benign
IGL02623:Kcnd2	APN	6	21726195	missense	probably benign	0.05
IGL02874:Kcnd2	APN	6	21216923	missense	probably damaging	1.00
IGL02982:Kcnd2	APN	6	21217149	missense	probably damaging	1.00
IGL02983:Kcnd2	APN	6	21216555	missense	probably damaging	1.00
IGL03119:Kcnd2	APN	6	21216509	nonsense	probably null
IGL03154:Kcnd2	APN	6	21216708	missense	probably damaging	1.00
IGL03174:Kcnd2	APN	6	21216516	missense	possibly damaging	0.93
IGL03296:Kcnd2	APN	6	21714209	missense	probably damaging	1.00
R0062:Kcnd2	UTSW	6	21727226	missense	possibly damaging	0.80
R0062:Kcnd2	UTSW	6	21727226	missense	possibly damaging	0.80
R0325:Kcnd2	UTSW	6	21216683	missense	probably damaging	0.99
R0771:Kcnd2	UTSW	6	21216442	missense	probably damaging	1.00
R0836:Kcnd2	UTSW	6	21726239	splice site	probably benign
R0836:Kcnd2	UTSW	6	21727329	missense	probably damaging	1.00
R0884:Kcnd2	UTSW	6	21216541	missense	probably benign
R1434:Kcnd2	UTSW	6	21216357	missense	probably damaging	1.00
R2116:Kcnd2	UTSW	6	21216432	missense	probably damaging	1.00
R3863:Kcnd2	UTSW	6	21217263	nonsense	probably null
R3939:Kcnd2	UTSW	6	21217096	missense	probably damaging	1.00
R4427:Kcnd2	UTSW	6	21216897	missense	probably damaging	0.99
R4561:Kcnd2	UTSW	6	21216396	missense	probably benign
R4707:Kcnd2	UTSW	6	21723212	missense	probably benign
R5523:Kcnd2	UTSW	6	21723212	missense	probably benign
R5545:Kcnd2	UTSW	6	21217019	missense	probably damaging	1.00
R5926:Kcnd2	UTSW	6	21217085	missense	probably damaging	0.99
R6900:Kcnd2	UTSW	6	21216588	missense	probably damaging	1.00
R7010:Kcnd2	UTSW	6	21216708	missense	probably damaging	1.00
R7028:Kcnd2	UTSW	6	21216178	start gained	probably benign
R7183:Kcnd2	UTSW	6	21216437	missense	probably damaging	1.00
R7387:Kcnd2	UTSW	6	21216778	missense	probably benign	0.28
R7463:Kcnd2	UTSW	6	21216498	missense	probably damaging	1.00
R8007:Kcnd2	UTSW	6	21217074	missense	probably damaging	0.99
R8305:Kcnd2	UTSW	6	21726198	nonsense	probably null
R8465:Kcnd2	UTSW	6	21216696	missense	probably damaging	1.00
R9329:Kcnd2	UTSW	6	21725982	missense	probably damaging	1.00
R9532:Kcnd2	UTSW	6	21727181	missense	probably benign	0.16
R9766:Kcnd2	UTSW	6	21216368	missense	probably benign	0.20
X0021:Kcnd2	UTSW	6	21217323	missense	probably damaging	0.99
Z1177:Kcnd2	UTSW	6	21216416	missense	probably damaging	1.00

Posted On

2015-04-16