Mutagenetix > Incidental Mutations

Incidental Mutation 'R4870:Kcng2'

434624

Institutional Source

Beutler Lab

Gene Symbol

Kcng2

Ensembl Gene

ENSMUSG00000059852

Gene Name

potassium voltage-gated channel, subfamily G, member 2

Synonyms

MMRRC Submission

042480-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4870 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80294546-80364254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80322868 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 90 (C90R)

Ref Sequence

ENSEMBL: ENSMUSP00000139072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077962] [ENSMUST00000184366] [ENSMUST00000184574]

Predicted Effect

probably benign
Transcript: ENSMUST00000077962
AA Change: C90R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077112
Gene: ENSMUSG00000059852
AA Change: C90R

Domain	Start	End	E-Value	Type
BTB	31	139	9.55e-4	SMART
transmembrane domain	187	209	N/A	INTRINSIC
Pfam:Ion_trans	233	417	7.1e-27	PFAM
Pfam:Ion_trans_2	336	423	3.5e-15	PFAM
low complexity region	445	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181877

Predicted Effect

probably benign
Transcript: ENSMUST00000184366

SMART Domains

Protein: ENSMUSP00000138920
Gene: ENSMUSG00000059852

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
Blast:BTB	32	64	2e-14	BLAST
SCOP:d1t1da_	33	63	7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184574
AA Change: C90R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139072
Gene: ENSMUSG00000059852
AA Change: C90R

Domain	Start	End	E-Value	Type
BTB	31	139	9.55e-4	SMART

Meta Mutation Damage Score

0.1918

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	C	A	7: 34,284,887	V104L	possibly damaging	Het
Abcb11	A	T	2: 69,239,196	I1285N	probably damaging	Het
Abcc8	G	A	7: 46,107,259	R721*	probably null	Het
Alox8	T	C	11: 69,186,568	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,251,478		probably null	Het
Cdc14a	A	G	3: 116,423,460	I9T	probably benign	Het
Ceacam18	T	C	7: 43,641,904	C257R	probably damaging	Het
Cilp	T	C	9: 65,279,698	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,153,565		probably benign	Het
Csnk1d	A	T	11: 120,983,188		probably benign	Het
Cyp11b2	A	G	15: 74,853,146	S285P	probably benign	Het
Dip2b	T	A	15: 100,195,784		probably null	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dnajc14	T	C	10: 128,817,350	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,670,364	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,495,192	C772S	unknown	Het
F2rl1	A	T	13: 95,513,984	F130Y	probably damaging	Het
Galk2	C	G	2: 125,929,637	S194*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbp1l1	A	G	4: 116,573,517	T62A	probably benign	Het
H2-Q10	A	T	17: 35,470,460	D53V	probably damaging	Het
H2-T22	T	C	17: 36,039,032	K356R	probably benign	Het
Insrr	G	A	3: 87,811,604	V956M	probably damaging	Het
Ints7	A	G	1: 191,596,331	T239A	probably damaging	Het
Isl1	A	G	13: 116,308,270		probably benign	Het
Kif3c	C	T	12: 3,401,735	P171S	probably damaging	Het
Knl1	A	G	2: 119,081,513	T1704A	probably benign	Het
Lats1	A	G	10: 7,705,785	Y778C	probably damaging	Het
Limd2	T	C	11: 106,159,389	M1V	probably null	Het
Mcm10	A	T	2: 5,004,159	I333N	probably damaging	Het
Mipep	T	A	14: 60,802,880	L283*	probably null	Het
Mixl1	A	G	1: 180,694,672	S215P	probably benign	Het
Mmp21	A	G	7: 133,678,677	L188P	probably damaging	Het
Mob1a	T	C	6: 83,340,239	S213P	probably benign	Het
Ndufaf6	T	C	4: 11,060,917	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Obscn	A	T	11: 59,136,206	L57Q	probably damaging	Het
Olfr1161	T	C	2: 88,025,460	L246P	probably damaging	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pirb	T	A	7: 3,712,662	M839L	probably benign	Het
Plcl2	A	G	17: 50,607,226	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,949,033	N99S	probably benign	Het
Ptpro	A	G	6: 137,377,132	K169E	probably damaging	Het
Rita1	T	A	5: 120,611,383	K88N	probably damaging	Het
Rptn	A	T	3: 93,396,469	K370*	probably null	Het
Simc1	A	G	13: 54,539,763	D115G	probably null	Het
Stab1	T	A	14: 31,142,043	N136I	probably benign	Het
Syt4	T	A	18: 31,447,356		probably benign	Het
Sytl2	A	T	7: 90,388,898	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,729,493		probably benign	Het
Tenm2	A	T	11: 36,078,569	D847E	probably damaging	Het
Th	G	T	7: 142,894,097	D321E	probably benign	Het
Tmem44	A	T	16: 30,540,773	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,256,641	L178P	probably damaging	Het
Trp63	A	G	16: 25,866,218	*285W	probably null	Het
Tsen34	T	C	7: 3,694,381		probably benign	Het
Tssk4	C	T	14: 55,651,815	T256I	probably benign	Het
Ttc17	A	T	2: 94,366,609	N464K	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ubn1	A	G	16: 5,077,313	E741G	probably damaging	Het
Urad	T	A	5: 147,315,454	I63F	probably damaging	Het
Vcan	T	C	13: 89,704,739	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,837,215	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,411,585	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Znfx1	A	C	2: 167,055,269	F578L	probably benign	Het

Other mutations in Kcng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4510:Kcng2	UTSW	18	80295715	missense	probably benign
R4511:Kcng2	UTSW	18	80295715	missense	probably benign
R4708:Kcng2	UTSW	18	80322852	missense	probably damaging	1.00
R6996:Kcng2	UTSW	18	80323143	start gained	probably benign
R7727:Kcng2	UTSW	18	80296090	missense	probably benign	0.23
R8524:Kcng2	UTSW	18	80295681	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGGAATCTCTACATCCCACCTAG -3'
(R):5'- CGTCATTATCAACGTCGGGG -3'

Sequencing Primer
(F):5'- ACACCTCCCTGATGCTGG -3'
(R):5'- TTATCAACGTCGGGGGCTGC -3'

Posted On

2016-10-11