Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Kcng2'

595600

Institutional Source

Beutler Lab

Gene Symbol

Kcng2

Ensembl Gene

ENSMUSG00000059852

Gene Name

potassium voltage-gated channel, subfamily G, member 2

Synonyms

MMRRC Submission

045783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7727 (G1)

Quality Score

89.0077

Status

Validated

Chromosome

Chromosomal Location

80294546-80364254 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80296090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 328 (V328M)

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: V328M

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077112
Gene: ENSMUSG00000059852
AA Change: V328M

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193 (GRCm38)	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966 (GRCm38)	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011 (GRCm38)	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275 (GRCm38)	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187 (GRCm38)	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413 (GRCm38)		probably null	Het
Cc2d2b	T	A	19: 40,756,530 (GRCm38)	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855 (GRCm38)	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625 (GRCm38)	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925 (GRCm38)	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755 (GRCm38)	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793 (GRCm38)	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,451,244 (GRCm38)	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645 (GRCm38)	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273 (GRCm38)	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150 (GRCm38)	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591 (GRCm38)	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702 (GRCm38)	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542 (GRCm38)	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339 (GRCm38)	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666 (GRCm38)	V74I	probably benign	Het
Kpna7	T	C	5: 145,005,045 (GRCm38)	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567 (GRCm38)	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668 (GRCm38)	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947 (GRCm38)	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306 (GRCm38)	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794 (GRCm38)	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242 (GRCm38)	H327L	unknown	Het
Myh1	A	G	11: 67,215,922 (GRCm38)	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548 (GRCm38)		probably benign	Het
Naga	C	A	15: 82,330,147 (GRCm38)	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401 (GRCm38)	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593 (GRCm38)	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407 (GRCm38)	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496 (GRCm38)	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368 (GRCm38)	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045 (GRCm38)	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882 (GRCm38)	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057 (GRCm38)	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109 (GRCm38)	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378 (GRCm38)	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970 (GRCm38)	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438 (GRCm38)	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984 (GRCm38)	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218 (GRCm38)	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327 (GRCm38)	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580 (GRCm38)	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899 (GRCm38)	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044 (GRCm38)	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434 (GRCm38)	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526 (GRCm38)	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675 (GRCm38)	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695 (GRCm38)	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178 (GRCm38)	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957 (GRCm38)	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789 (GRCm38)	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249 (GRCm38)	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274 (GRCm38)	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850 (GRCm38)	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938 (GRCm38)	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805 (GRCm38)	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148 (GRCm38)	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134 (GRCm38)	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636 (GRCm38)	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682 (GRCm38)	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995 (GRCm38)	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643 (GRCm38)	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941 (GRCm38)	I235V	probably benign	Het

Other mutations in Kcng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4510:Kcng2	UTSW	18	80,295,715 (GRCm38)	missense	probably benign
R4511:Kcng2	UTSW	18	80,295,715 (GRCm38)	missense	probably benign
R4708:Kcng2	UTSW	18	80,322,852 (GRCm38)	missense	probably damaging	1.00
R4870:Kcng2	UTSW	18	80,322,868 (GRCm38)	missense	probably benign	0.03
R6996:Kcng2	UTSW	18	80,323,143 (GRCm38)	start gained	probably benign
R8524:Kcng2	UTSW	18	80,295,681 (GRCm38)	missense	probably benign
R9275:Kcng2	UTSW	18	80,295,859 (GRCm38)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CTCCTTGAGCTCCGAATAGG -3'
(R):5'- TCATCGACATCCTGGCCATC -3'

Sequencing Primer
(F):5'- ATGTCTCCATAGCCCACGGTG -3'
(R):5'- GGCCATCCTGCCCTTCTACG -3'

Posted On

2019-11-12