Mutagenetix > Incidental Mutation

Incidental Mutation 'R6157:Kcns2'

489662

Institutional Source

Beutler Lab

Gene Symbol

Kcns2

Ensembl Gene

ENSMUSG00000050963

Gene Name

K+ voltage-gated channel, subfamily S, 2

Synonyms

Kv9.2, E130006J24Rik

MMRRC Submission

044304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6157 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34837501-34843553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34839504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 289 (N289S)

Ref Sequence

ENSEMBL: ENSMUSP00000153984 (fasta)

Gene Model

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

AlphaFold

O35174

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072868
AA Change: N289S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072645
Gene: ENSMUSG00000050963
AA Change: N289S

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

possibly damaging
Transcript: ENSMUST00000228725
AA Change: N289S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1091

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

93% (40/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,947,617 (GRCm39)	K505E	possibly damaging	Het
Abcb1b	A	T	5: 8,874,245 (GRCm39)	N390I	possibly damaging	Het
Apob	A	T	12: 8,056,077 (GRCm39)	M1520L	probably benign	Het
Atg4c	C	T	4: 99,123,400 (GRCm39)	R396*	probably null	Het
Atp2a3	G	A	11: 72,871,442 (GRCm39)	V648M	probably damaging	Het
Blm	T	C	7: 80,162,733 (GRCm39)	D203G	probably benign	Het
Csrnp3	A	T	2: 65,779,363 (GRCm39)	D13V	probably damaging	Het
Dnajc10	A	T	2: 80,147,735 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,253 (GRCm39)	Y1729C	probably damaging	Het
Dynlt2b	G	A	16: 32,238,660 (GRCm39)	A12T	possibly damaging	Het
Ecsit	T	C	9: 21,985,987 (GRCm39)	Y213C	probably damaging	Het
Fer	A	G	17: 64,385,880 (GRCm39)	K654R	probably damaging	Het
Hdac9	G	T	12: 34,439,428 (GRCm39)	A383E	probably damaging	Het
Hltf	T	A	3: 20,130,660 (GRCm39)	S293T	probably benign	Het
Hydin	T	A	8: 111,254,648 (GRCm39)	D2359E	probably benign	Het
Inf2	A	G	12: 112,571,222 (GRCm39)		probably benign	Het
Meioc	T	C	11: 102,559,227 (GRCm39)	S50P	probably damaging	Het
Mocs1	G	T	17: 49,761,764 (GRCm39)	E619D	probably benign	Het
Nfatc2	A	G	2: 168,361,371 (GRCm39)		probably benign	Het
Or51i1	T	A	7: 103,671,105 (GRCm39)	N140I	possibly damaging	Het
Pag1	A	T	3: 9,758,896 (GRCm39)	H407Q	probably benign	Het
Plaat1	A	G	16: 29,036,501 (GRCm39)	I46M	possibly damaging	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pld4	C	T	12: 112,734,535 (GRCm39)	T432I	probably damaging	Het
Psd3	T	G	8: 68,574,179 (GRCm39)	M1L	probably benign	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Ripor2	T	C	13: 24,885,052 (GRCm39)	L390P	probably damaging	Het
Rpgrip1	A	T	14: 52,349,631 (GRCm39)	E6D	probably benign	Het
Ryr3	A	T	2: 112,672,244 (GRCm39)	L1409Q	probably damaging	Het
Slc6a5	A	G	7: 49,601,250 (GRCm39)	T684A	probably benign	Het
Smpd4	G	T	16: 17,458,930 (GRCm39)		probably null	Het
Snx18	T	C	13: 113,753,725 (GRCm39)	S403G	probably damaging	Het
Spsb4	G	T	9: 96,878,160 (GRCm39)	H54Q	probably damaging	Het
Ssrp1	A	G	2: 84,871,072 (GRCm39)	Y236C	probably damaging	Het
Tenm3	C	T	8: 48,751,843 (GRCm39)	S982N	probably damaging	Het
Tet1	A	G	10: 62,675,749 (GRCm39)	S776P	probably damaging	Het
Tln1	G	A	4: 43,534,744 (GRCm39)	P2166S	probably benign	Het
Ufl1	T	A	4: 25,279,350 (GRCm39)	Q83L	possibly damaging	Het
Unc80	A	T	1: 66,693,188 (GRCm39)	K2458*	probably null	Het
Ush2a	A	T	1: 188,460,467 (GRCm39)	Y2576F	probably benign	Het
Xrcc6	C	A	15: 81,913,305 (GRCm39)		probably null	Het
Zbtb48	A	G	4: 152,106,064 (GRCm39)	F380L	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	Het

Other mutations in Kcns2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02524:Kcns2	APN	15	34,838,981 (GRCm39)	missense	probably benign	0.25
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
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

Predicted Primers

PCR Primer
(F):5'- AGCACTTTGGCATTGCTTGG -3'
(R):5'- TCATACTGACAGTGGCCCAC -3'

Sequencing Primer
(F):5'- ACTTTGGCATTGCTTGGTTCAC -3'
(R):5'- CTTTTCAATGGTGTAGGCCAC -3'

Posted On

2017-10-10