Mutagenetix > Incidental Mutation

Incidental Mutation 'R5523:Kcnd2'

431663

Institutional Source

Beutler Lab

Gene Symbol

Kcnd2

Ensembl Gene

ENSMUSG00000060882

Gene Name

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

Synonyms

Kv4.2

MMRRC Submission

043265-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21215502-21729804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21723211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 467 (I467T)

Ref Sequence

ENSEMBL: ENSMUSP00000080257 (fasta)

Gene Model

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

AlphaFold

Q9Z0V2

Predicted Effect

probably benign
Transcript: ENSMUST00000081542
AA Change: I467T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: I467T

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

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,644,273 (GRCm39)	T70M	probably benign	Het
Adamtsl3	G	A	7: 82,223,650 (GRCm39)	A218T	possibly damaging	Het
Ahnak2	T	C	12: 112,741,642 (GRCm39)	D810G	probably damaging	Het
Ak7	T	A	12: 105,707,341 (GRCm39)	L315*	probably null	Het
Apoa5	T	C	9: 46,181,887 (GRCm39)	F321S	possibly damaging	Het
Baiap2l1	G	C	5: 144,212,768 (GRCm39)	P416A	probably damaging	Het
Bco1	A	G	8: 117,835,432 (GRCm39)	I128V	possibly damaging	Het
Bpifb2	T	C	2: 153,717,905 (GRCm39)		probably benign	Het
Cdt1	G	A	8: 123,294,832 (GRCm39)	R13H	possibly damaging	Het
Cenpj	A	G	14: 56,789,880 (GRCm39)	V723A	probably benign	Het
Chl1	T	A	6: 103,685,675 (GRCm39)	W849R	probably damaging	Het
Cpne9	A	G	6: 113,267,192 (GRCm39)	D169G	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp4f39	C	A	17: 32,689,807 (GRCm39)	N84K	probably benign	Het
Cyp4f40	T	A	17: 32,888,796 (GRCm39)	F192I	probably damaging	Het
Disp3	T	C	4: 148,342,554 (GRCm39)	D632G	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Echs1	G	T	7: 139,692,426 (GRCm39)	T107K	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Ergic1	G	A	17: 26,843,580 (GRCm39)	V17I	probably damaging	Het
Fank1	G	T	7: 133,478,569 (GRCm39)	C210F	probably damaging	Het
Fbxo15	T	G	18: 84,978,194 (GRCm39)	M136R	probably damaging	Het
Ggcx	C	A	6: 72,401,017 (GRCm39)	P240H	probably damaging	Het
Gpr179	T	C	11: 97,227,608 (GRCm39)	R1516G	probably benign	Het
Gprin3	G	A	6: 59,330,931 (GRCm39)	Q459*	probably null	Het
Hadha	C	A	5: 30,350,252 (GRCm39)	V99F	possibly damaging	Het
Hirip3	A	G	7: 126,463,034 (GRCm39)	D330G	possibly damaging	Het
Irx2	T	C	13: 72,779,714 (GRCm39)	W333R	probably damaging	Het
Kansl1l	T	C	1: 66,841,271 (GRCm39)	T10A	probably benign	Het
Klc3	A	T	7: 19,130,932 (GRCm39)	I215N	probably damaging	Het
Kmt2c	A	G	5: 25,504,337 (GRCm39)	V3657A	probably benign	Het
Lin28b	A	T	10: 45,345,164 (GRCm39)	L54*	probably null	Het
Mgll	T	C	6: 88,702,743 (GRCm39)	V14A	probably benign	Het
Mrc2	A	G	11: 105,234,408 (GRCm39)	N976S	probably benign	Het
Myh8	C	A	11: 67,196,788 (GRCm39)	A1807E	possibly damaging	Het
Nalcn	G	A	14: 123,647,155 (GRCm39)	P573S	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Neb	T	C	2: 52,168,827 (GRCm39)	S1903G	probably benign	Het
Nfe2	T	A	15: 103,157,556 (GRCm39)	D145V	probably damaging	Het
Or52a20	T	A	7: 103,366,687 (GRCm39)	Y295*	probably null	Het
Padi1	A	T	4: 140,542,164 (GRCm39)	V586D	probably damaging	Het
Pcdh12	T	C	18: 38,416,192 (GRCm39)	D311G	probably damaging	Het
Pcdha11	A	T	18: 37,145,439 (GRCm39)	H510L	probably damaging	Het
Plcb1	C	A	2: 135,102,486 (GRCm39)	P221H	probably benign	Het
Plekhg2	A	T	7: 28,069,856 (GRCm39)	V58E	probably damaging	Het
Pparg	A	C	6: 115,467,032 (GRCm39)	Q435P	probably damaging	Het
Ppp1r36	A	G	12: 76,484,892 (GRCm39)	T282A	possibly damaging	Het
Prcd	T	C	11: 116,559,110 (GRCm39)		probably benign	Het
Pygo1	A	T	9: 72,852,266 (GRCm39)	H151L	possibly damaging	Het
Rnmt	A	G	18: 68,446,773 (GRCm39)	Y266C	probably benign	Het
Rxrb	T	C	17: 34,255,411 (GRCm39)	V246A	probably damaging	Het
Sart1	A	G	19: 5,433,704 (GRCm39)	S378P	probably damaging	Het
Sema4d	T	C	13: 51,865,390 (GRCm39)	N318S	possibly damaging	Het
Sis	C	T	3: 72,798,754 (GRCm39)	V1765I	probably benign	Het
Slc17a6	A	T	7: 51,276,598 (GRCm39)	K116*	probably null	Het
Smc6	T	A	12: 11,341,540 (GRCm39)	H519Q	probably benign	Het
Sowahc	T	A	10: 59,058,785 (GRCm39)	M307K	probably benign	Het
Sptbn1	A	G	11: 30,087,560 (GRCm39)	Y960H	probably damaging	Het
Tmem270	A	C	5: 134,931,636 (GRCm39)	V102G	probably benign	Het
Tmprss11d	A	G	5: 86,486,729 (GRCm39)	F54L	probably benign	Het
Top1	T	A	2: 160,544,695 (GRCm39)	Y270*	probably null	Het
Trpm2	A	G	10: 77,771,795 (GRCm39)	F615L	probably benign	Het
Ttf2	A	G	3: 100,866,558 (GRCm39)	S525P	probably damaging	Het
Ttn	A	T	2: 76,777,241 (GRCm39)	M1387K	possibly damaging	Het
Upk3bl	A	T	5: 136,088,954 (GRCm39)	R156W	probably damaging	Het
Usp34	G	T	11: 23,299,198 (GRCm39)	R290L	probably benign	Het
Vwf	T	C	6: 125,620,005 (GRCm39)	V1561A		Het
Zan	A	G	5: 137,420,155 (GRCm39)	I2834T	unknown	Het
Zfp105	A	G	9: 122,755,454 (GRCm39)	Y90C	probably benign	Het
Zfp804a	T	C	2: 82,089,339 (GRCm39)	V1056A	probably damaging	Het
Zfp956	A	T	6: 47,930,455 (GRCm39)		probably benign	Het

Other mutations in Kcnd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Kcnd2	APN	6	21,714,153 (GRCm39)	missense	possibly damaging	0.90
IGL01124:Kcnd2	APN	6	21,217,216 (GRCm39)	missense	probably damaging	1.00
IGL01317:Kcnd2	APN	6	21,727,339 (GRCm39)	makesense	probably null
IGL01534:Kcnd2	APN	6	21,726,144 (GRCm39)	missense	probably benign
IGL02623:Kcnd2	APN	6	21,726,194 (GRCm39)	missense	probably benign	0.05
IGL02682:Kcnd2	APN	6	21,216,924 (GRCm39)	nonsense	probably null
IGL02874:Kcnd2	APN	6	21,216,922 (GRCm39)	missense	probably damaging	1.00
IGL02982:Kcnd2	APN	6	21,217,148 (GRCm39)	missense	probably damaging	1.00
IGL02983:Kcnd2	APN	6	21,216,554 (GRCm39)	missense	probably damaging	1.00
IGL03119:Kcnd2	APN	6	21,216,508 (GRCm39)	nonsense	probably null
IGL03154:Kcnd2	APN	6	21,216,707 (GRCm39)	missense	probably damaging	1.00
IGL03174:Kcnd2	APN	6	21,216,515 (GRCm39)	missense	possibly damaging	0.93
IGL03296:Kcnd2	APN	6	21,714,208 (GRCm39)	missense	probably damaging	1.00
R0062:Kcnd2	UTSW	6	21,727,225 (GRCm39)	missense	possibly damaging	0.80
R0062:Kcnd2	UTSW	6	21,727,225 (GRCm39)	missense	possibly damaging	0.80
R0325:Kcnd2	UTSW	6	21,216,682 (GRCm39)	missense	probably damaging	0.99
R0771:Kcnd2	UTSW	6	21,216,441 (GRCm39)	missense	probably damaging	1.00
R0836:Kcnd2	UTSW	6	21,727,328 (GRCm39)	missense	probably damaging	1.00
R0836:Kcnd2	UTSW	6	21,726,238 (GRCm39)	splice site	probably benign
R0884:Kcnd2	UTSW	6	21,216,540 (GRCm39)	missense	probably benign
R1434:Kcnd2	UTSW	6	21,216,356 (GRCm39)	missense	probably damaging	1.00
R2116:Kcnd2	UTSW	6	21,216,431 (GRCm39)	missense	probably damaging	1.00
R3863:Kcnd2	UTSW	6	21,217,262 (GRCm39)	nonsense	probably null
R3939:Kcnd2	UTSW	6	21,217,095 (GRCm39)	missense	probably damaging	1.00
R4427:Kcnd2	UTSW	6	21,216,896 (GRCm39)	missense	probably damaging	0.99
R4561:Kcnd2	UTSW	6	21,216,395 (GRCm39)	missense	probably benign
R4707:Kcnd2	UTSW	6	21,723,211 (GRCm39)	missense	probably benign
R5545:Kcnd2	UTSW	6	21,217,018 (GRCm39)	missense	probably damaging	1.00
R5926:Kcnd2	UTSW	6	21,217,084 (GRCm39)	missense	probably damaging	0.99
R6900:Kcnd2	UTSW	6	21,216,587 (GRCm39)	missense	probably damaging	1.00
R7010:Kcnd2	UTSW	6	21,216,707 (GRCm39)	missense	probably damaging	1.00
R7028:Kcnd2	UTSW	6	21,216,177 (GRCm39)	start gained	probably benign
R7183:Kcnd2	UTSW	6	21,216,436 (GRCm39)	missense	probably damaging	1.00
R7387:Kcnd2	UTSW	6	21,216,777 (GRCm39)	missense	probably benign	0.28
R7463:Kcnd2	UTSW	6	21,216,497 (GRCm39)	missense	probably damaging	1.00
R8007:Kcnd2	UTSW	6	21,217,073 (GRCm39)	missense	probably damaging	0.99
R8305:Kcnd2	UTSW	6	21,726,197 (GRCm39)	nonsense	probably null
R8465:Kcnd2	UTSW	6	21,216,695 (GRCm39)	missense	probably damaging	1.00
R9329:Kcnd2	UTSW	6	21,725,981 (GRCm39)	missense	probably damaging	1.00
R9532:Kcnd2	UTSW	6	21,727,180 (GRCm39)	missense	probably benign	0.16
R9766:Kcnd2	UTSW	6	21,216,367 (GRCm39)	missense	probably benign	0.20
X0021:Kcnd2	UTSW	6	21,217,322 (GRCm39)	missense	probably damaging	0.99
Z1177:Kcnd2	UTSW	6	21,216,415 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAGGTGTCAGCTTAAAAGAC -3'
(R):5'- GGGATGCAGAGGATCAATTTCTG -3'

Sequencing Primer
(F):5'- TGGAAATATGCCCGCTGATC -3'
(R):5'- CAGAGGATCAATTTCTGCTTGG -3'

Posted On

2016-10-05