Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02983:Kcnd2'

406639

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: 0.124) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

21215503-21729805 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21216555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 86 (D86A)

Ref Sequence

ENSEMBL: ENSMUSP00000080257 (fasta)

Gene Model

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

AlphaFold

Q9Z0V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081542
AA Change: D86A

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

SMART Domains

Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: D86A

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Brip1	T	C	11: 86,139,124	I565V	probably benign	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,967,567		probably null	Het
Crat	A	C	2: 30,404,526		probably null	Het
Cspp1	A	G	1: 10,127,525	K227R	probably benign	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Pramef20	T	C	4: 144,373,127	E356G	probably benign	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,957,049	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	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
IGL02682:Kcnd2	APN	6	21216925	nonsense	probably null
IGL02874:Kcnd2	APN	6	21216923	missense	probably damaging	1.00
IGL02982:Kcnd2	APN	6	21217149	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

2016-08-02