Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Kcna10'

236861

Institutional Source

Beutler Lab

Gene Symbol

Kcna10

Ensembl Gene

ENSMUSG00000042861

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 10

Synonyms

Kv1.8, Kcna8

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107090459-107103037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107102032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 221 (V221A)

Ref Sequence

ENSEMBL: ENSMUSP00000088118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055064]

AlphaFold

B2RQA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055064
AA Change: V221A

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

SMART Domains

Protein: ENSMUSP00000088118
Gene: ENSMUSG00000042861
AA Change: V221A

Domain	Start	End	E-Value	Type
BTB	86	186	1.07e-6	SMART
Pfam:Ion_trans	215	468	3.4e-51	PFAM
Pfam:Ion_trans_2	376	461	6.2e-16	PFAM

Meta Mutation Damage Score

0.1301

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significant vestibular and mild hearing dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,320,941 (GRCm39)	V171A	probably benign	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Nvl	A	T	1: 180,962,639 (GRCm39)		probably benign	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or11h4	T	C	14: 50,973,681 (GRCm39)	M313V	probably benign	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 118,389,616 (GRCm39)	F342I	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zfp786	G	T	6: 47,797,905 (GRCm39)	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	probably damaging	Het

Other mutations in Kcna10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Kcna10	APN	3	107,102,044 (GRCm39)	missense	probably damaging	1.00
IGL00481:Kcna10	APN	3	107,102,830 (GRCm39)	missense	probably benign
IGL00645:Kcna10	APN	3	107,102,781 (GRCm39)	missense	possibly damaging	0.95
IGL00974:Kcna10	APN	3	107,102,647 (GRCm39)	missense	probably damaging	1.00
IGL03108:Kcna10	APN	3	107,102,259 (GRCm39)	missense	probably benign	0.00
R0020:Kcna10	UTSW	3	107,102,736 (GRCm39)	missense	probably damaging	1.00
R0421:Kcna10	UTSW	3	107,101,820 (GRCm39)	missense	probably damaging	1.00
R0811:Kcna10	UTSW	3	107,102,575 (GRCm39)	missense	possibly damaging	0.89
R0812:Kcna10	UTSW	3	107,102,575 (GRCm39)	missense	possibly damaging	0.89
R4405:Kcna10	UTSW	3	107,102,781 (GRCm39)	missense	possibly damaging	0.95
R4668:Kcna10	UTSW	3	107,102,010 (GRCm39)	missense	possibly damaging	0.83
R4703:Kcna10	UTSW	3	107,101,926 (GRCm39)	missense	probably benign	0.22
R4719:Kcna10	UTSW	3	107,102,217 (GRCm39)	missense	probably benign
R4736:Kcna10	UTSW	3	107,102,808 (GRCm39)	missense	probably benign
R5227:Kcna10	UTSW	3	107,101,744 (GRCm39)	missense	probably damaging	1.00
R5564:Kcna10	UTSW	3	107,101,545 (GRCm39)	missense	probably benign
R5735:Kcna10	UTSW	3	107,102,394 (GRCm39)	missense	probably benign
R7418:Kcna10	UTSW	3	107,102,362 (GRCm39)	missense	probably benign	0.12
R7464:Kcna10	UTSW	3	107,101,395 (GRCm39)	missense	probably damaging	0.99
R7699:Kcna10	UTSW	3	107,102,856 (GRCm39)	missense	probably damaging	1.00
R7700:Kcna10	UTSW	3	107,102,856 (GRCm39)	missense	probably damaging	1.00
R7978:Kcna10	UTSW	3	107,101,663 (GRCm39)	missense	probably damaging	1.00
R8068:Kcna10	UTSW	3	107,101,726 (GRCm39)	missense	possibly damaging	0.58
R8744:Kcna10	UTSW	3	107,101,702 (GRCm39)	missense	probably damaging	1.00
R8932:Kcna10	UTSW	3	107,101,419 (GRCm39)	missense	probably damaging	0.96
R9137:Kcna10	UTSW	3	107,102,497 (GRCm39)	missense	probably damaging	1.00
R9728:Kcna10	UTSW	3	107,101,513 (GRCm39)	missense	possibly damaging	0.89
X0026:Kcna10	UTSW	3	107,102,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGATCTCCTTCTATGAACTGGG -3'
(R):5'- AGAAGTCAGTCTTGCTGGGG -3'

Sequencing Primer
(F):5'- ATCTCCTTCTATGAACTGGGTAGCG -3'
(R):5'- ACCACACGATGCAGGTG -3'

Posted On

2014-10-02