Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02524:Kcns2'

296978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcns2

Ensembl Gene

ENSMUSG00000050963

Gene Name

K+ voltage-gated channel, subfamily S, 2

Synonyms

Kv9.2, E130006J24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

34837501-34843553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34838981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 115 (I115V)

Ref Sequence

ENSEMBL: ENSMUSP00000153984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072868] [ENSMUST00000228725]

AlphaFold

O35174

Predicted Effect

probably benign
Transcript: ENSMUST00000072868
AA Change: I115V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072645
Gene: ENSMUSG00000050963
AA Change: I115V

Domain	Start	End	E-Value	Type
BTB	17	126	3.35e-8	SMART
Pfam:Ion_trans	186	421	1.2e-44	PFAM
Pfam:Ion_trans_2	330	415	4e-15	PFAM
low complexity region	463	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000228725
AA Change: I115V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [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
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,338,319 (GRCm39)		probably benign	Het
Asap3	A	T	4: 135,965,927 (GRCm39)	T453S	probably damaging	Het
Ccdc110	C	T	8: 46,394,979 (GRCm39)	P290L	probably benign	Het
Ccdc127	A	G	13: 74,501,016 (GRCm39)	N11S	probably damaging	Het
Cd80	T	C	16: 38,303,045 (GRCm39)	V164A	probably benign	Het
Ctnna3	T	C	10: 64,096,605 (GRCm39)	I381T	possibly damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Etnppl	A	G	3: 130,424,320 (GRCm39)		probably benign	Het
Far2	T	A	6: 148,052,156 (GRCm39)	L145Q	probably damaging	Het
Fdxr	A	G	11: 115,162,086 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,609,268 (GRCm39)	V347A	probably damaging	Het
Kif2a	A	G	13: 107,100,863 (GRCm39)	L627S	possibly damaging	Het
Krtap26-1	A	G	16: 88,444,367 (GRCm39)	S85P	possibly damaging	Het
Ldlr	C	A	9: 21,644,977 (GRCm39)	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,285,392 (GRCm39)	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,506 (GRCm39)	E61G	probably damaging	Het
Msh2	T	C	17: 87,985,785 (GRCm39)	F121L	probably benign	Het
Myh4	A	G	11: 67,140,066 (GRCm39)	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091 (GRCm39)	F246S	probably benign	Het
Nynrin	C	T	14: 56,108,931 (GRCm39)	A1346V	possibly damaging	Het
Or8k53	A	C	2: 86,177,686 (GRCm39)	C141W	probably damaging	Het
P2rx1	C	T	11: 72,900,474 (GRCm39)	P196L	probably damaging	Het
Pbx3	T	C	2: 34,260,830 (GRCm39)		probably benign	Het
Psen2	A	T	1: 180,073,232 (GRCm39)	S30T	probably benign	Het
Rack1	T	C	11: 48,694,298 (GRCm39)	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,358,511 (GRCm39)	T206A	probably benign	Het
Rrp7a	A	G	15: 83,002,379 (GRCm39)		probably benign	Het
Slco1b2	C	T	6: 141,616,798 (GRCm39)	T377I	probably benign	Het
Spmip11	G	A	15: 98,469,006 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,970,611 (GRCm39)	S162T	possibly damaging	Het
Syt2	A	G	1: 134,669,703 (GRCm39)	K115E	probably benign	Het
Tet1	A	G	10: 62,714,425 (GRCm39)	S457P	probably damaging	Het
Trbv3	A	G	6: 41,025,599 (GRCm39)	E63G	possibly damaging	Het
Unc13d	T	C	11: 115,961,145 (GRCm39)	Y404C	probably damaging	Het
Usp32	G	A	11: 84,900,837 (GRCm39)	R1128*	probably null	Het
Vps4a	G	A	8: 107,763,383 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,980,921 (GRCm39)	H505Q	probably damaging	Het
Ywhab	T	A	2: 163,858,057 (GRCm39)	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,641,022 (GRCm39)	K1241E	probably benign	Het

Other mutations in Kcns2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02723:Kcns2	APN	15	34,838,961 (GRCm39)	missense	probably damaging	1.00
R0380:Kcns2	UTSW	15	34,839,318 (GRCm39)	missense	possibly damaging	0.57
R0927:Kcns2	UTSW	15	34,839,242 (GRCm39)	missense	probably benign	0.31
R1673:Kcns2	UTSW	15	34,838,966 (GRCm39)	missense	probably damaging	1.00
R1754:Kcns2	UTSW	15	34,839,663 (GRCm39)	missense	possibly damaging	0.62
R1829:Kcns2	UTSW	15	34,838,949 (GRCm39)	missense	probably damaging	1.00
R1913:Kcns2	UTSW	15	34,839,855 (GRCm39)	missense	probably damaging	1.00
R2290:Kcns2	UTSW	15	34,838,655 (GRCm39)	missense	possibly damaging	0.95
R4983:Kcns2	UTSW	15	34,839,751 (GRCm39)	missense	probably damaging	1.00
R5024:Kcns2	UTSW	15	34,839,683 (GRCm39)	missense	probably benign	0.26
R5195:Kcns2	UTSW	15	34,839,677 (GRCm39)	missense	possibly damaging	0.90
R5641:Kcns2	UTSW	15	34,839,199 (GRCm39)	missense	possibly damaging	0.82
R5771:Kcns2	UTSW	15	34,839,068 (GRCm39)	missense	probably benign	0.06
R5788:Kcns2	UTSW	15	34,839,000 (GRCm39)	missense	probably benign	0.01
R5970:Kcns2	UTSW	15	34,839,930 (GRCm39)	missense	probably benign	0.03
R6032:Kcns2	UTSW	15	34,839,080 (GRCm39)	missense	probably benign	0.02
R6032:Kcns2	UTSW	15	34,839,080 (GRCm39)	missense	probably benign	0.02
R6157:Kcns2	UTSW	15	34,839,504 (GRCm39)	missense	possibly damaging	0.95
R6925:Kcns2	UTSW	15	34,840,059 (GRCm39)	missense	unknown
R7059:Kcns2	UTSW	15	34,838,981 (GRCm39)	missense	probably damaging	0.97
R7378:Kcns2	UTSW	15	34,839,849 (GRCm39)	nonsense	probably null
R7572:Kcns2	UTSW	15	34,839,318 (GRCm39)	missense	possibly damaging	0.57
R7854:Kcns2	UTSW	15	34,839,917 (GRCm39)	missense	probably benign	0.00
R8041:Kcns2	UTSW	15	34,839,291 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16