Mutagenetix > Incidental Mutation

Incidental Mutation 'R4511:Kcng2'

470149

Institutional Source

Beutler Lab

Gene Symbol

Kcng2

Ensembl Gene

ENSMUSG00000059852

Gene Name

potassium voltage-gated channel, subfamily G, member 2

Synonyms

MMRRC Submission

041586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4511 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

80337761-80407469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 80338930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 453 (R453S)

Ref Sequence

ENSEMBL: ENSMUSP00000077112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070135] [ENSMUST00000077962] [ENSMUST00000091798] [ENSMUST00000123750] [ENSMUST00000129043] [ENSMUST00000131780] [ENSMUST00000140594]

AlphaFold

F7A6P6

Predicted Effect

probably benign
Transcript: ENSMUST00000070135

SMART Domains

Protein: ENSMUSP00000069986
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	166	197	7.56e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077962
AA Change: R453S

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

SMART Domains

Protein: ENSMUSP00000077112
Gene: ENSMUSG00000059852
AA Change: R453S

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

probably benign
Transcript: ENSMUST00000091798

SMART Domains

Protein: ENSMUSP00000089402
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	184	215	7.56e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123750

SMART Domains

Protein: ENSMUSP00000121890
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	166	197	7.56e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129043

SMART Domains

Protein: ENSMUSP00000118670
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	166	197	7.56e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131780

SMART Domains

Protein: ENSMUSP00000117166
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	184	215	7.56e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140594

SMART Domains

Protein: ENSMUSP00000119083
Gene: ENSMUSG00000034006

Domain	Start	End	E-Value	Type
CTNS	31	62	6.86e-1	SMART
transmembrane domain	78	100	N/A	INTRINSIC
CTNS	184	215	7.56e-9	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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. 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Washc2	A	T	6: 116,197,517 (GRCm39)	D250V	probably damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	probably benign	Het

Other mutations in Kcng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4510:Kcng2	UTSW	18	80,338,930 (GRCm39)	missense	probably benign
R4708:Kcng2	UTSW	18	80,366,067 (GRCm39)	missense	probably damaging	1.00
R4870:Kcng2	UTSW	18	80,366,083 (GRCm39)	missense	probably benign	0.03
R6996:Kcng2	UTSW	18	80,366,358 (GRCm39)	start gained	probably benign
R7727:Kcng2	UTSW	18	80,339,305 (GRCm39)	missense	probably benign	0.23
R8524:Kcng2	UTSW	18	80,338,896 (GRCm39)	missense	probably benign
R9275:Kcng2	UTSW	18	80,339,074 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

Posted On

2017-03-07