Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Kcne2'

638604

Institutional Source

Beutler Lab

Gene Symbol

Kcne2

Ensembl Gene

ENSMUSG00000039672

Gene Name

potassium voltage-gated channel, Isk-related subfamily, gene 2

Synonyms

MiRP1, 2200002I16Rik

MMRRC Submission

067711-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92089277-92095017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92093707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 78 (E78G)

Ref Sequence

ENSEMBL: ENSMUSP00000048849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047383] [ENSMUST00000063641] [ENSMUST00000113971] [ENSMUST00000118064]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047383
AA Change: E78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048849
Gene: ENSMUSG00000039672
AA Change: E78G

Domain	Start	End	E-Value	Type
Pfam:ISK_Channel	9	116	4.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063641

SMART Domains

Protein: ENSMUSP00000070724
Gene: ENSMUSG00000051989

Domain	Start	End	E-Value	Type
Pfam:FAM165	4	55	1.6e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113971
AA Change: E78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109604
Gene: ENSMUSG00000039672
AA Change: E78G

Domain	Start	End	E-Value	Type
Pfam:ISK_Channel	29	116	1.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118064

SMART Domains

Protein: ENSMUSP00000113086
Gene: ENSMUSG00000051989

Domain	Start	End	E-Value	Type
Pfam:FAM165	4	55	1.6e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

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, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show enlarged stomachs, reduced parietal cell proton secretion, altered parietal cell morphology, achlorhydria, hypergastrinemia, gastric hyperplasia, and increased gastric pH. Males homozygous for a different knock-out allele develop iron-deficient anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 109,927,515 (GRCm39)		probably benign	Het
Adamts3	C	A	5: 89,923,282 (GRCm39)	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,726,315 (GRCm39)	P201S	probably damaging	Het
Ahnak2	A	G	12: 112,742,242 (GRCm39)	V610A	possibly damaging	Het
Ap5s1	A	C	2: 131,054,379 (GRCm39)	H62P	probably benign	Het
Apeh	A	G	9: 107,963,444 (GRCm39)	S593P	probably damaging	Het
Arhgap24	T	C	5: 103,028,692 (GRCm39)	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,706,893 (GRCm39)	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,215,602 (GRCm39)	S271L	probably benign	Het
Atp6v0a1	A	G	11: 100,924,931 (GRCm39)	R339G	probably damaging	Het
Calb2	T	C	8: 110,894,690 (GRCm39)	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,894,689 (GRCm39)	L201R	probably damaging	Het
Car15	A	G	16: 17,654,580 (GRCm39)		probably null	Het
Cecr2	A	G	6: 120,735,077 (GRCm39)	N771S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Csmd1	T	A	8: 16,108,716 (GRCm39)	I1896F	probably damaging	Het
Cubn	C	T	2: 13,491,613 (GRCm39)	V145I	probably benign	Het
Cuedc1	G	A	11: 88,073,381 (GRCm39)	S182N	probably benign	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Cyp7a1	G	A	4: 6,268,295 (GRCm39)	P477S	probably damaging	Het
Dcaf17	T	A	2: 70,885,718 (GRCm39)	W16R		Het
Dhx8	T	A	11: 101,631,571 (GRCm39)	M388K	probably benign	Het
Dnah14	T	A	1: 181,543,780 (GRCm39)	Y2453*	probably null	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,360 (GRCm39)	E148K	probably benign	Het
Hectd4	A	G	5: 121,404,424 (GRCm39)	T434A	possibly damaging	Het
Ide	A	G	19: 37,290,952 (GRCm39)	L368P		Het
Ide	G	C	19: 37,290,953 (GRCm39)	L368V	probably null	Het
Ifi206	T	C	1: 173,308,032 (GRCm39)	I655V		Het
Insrr	A	G	3: 87,721,501 (GRCm39)	M1136V	probably damaging	Het
Lrrc23	A	T	6: 124,755,267 (GRCm39)	L90H	probably damaging	Het
Magel2	A	C	7: 62,028,875 (GRCm39)	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,239,468 (GRCm39)	H153Y	possibly damaging	Het
Msln	A	G	17: 25,967,880 (GRCm39)	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,995,703 (GRCm39)		probably null	Het
Myo7a	T	G	7: 97,726,376 (GRCm39)	M966L	probably benign	Het
Ncoa5	C	T	2: 164,854,982 (GRCm39)	D47N	possibly damaging	Het
Neurl4	T	A	11: 69,800,206 (GRCm39)		probably null	Het
Or1e29	T	A	11: 73,667,839 (GRCm39)	M105L	probably benign	Het
Or4d1	T	C	11: 87,805,589 (GRCm39)	T48A	probably benign	Het
Or5p75-ps1	T	A	7: 108,108,125 (GRCm39)	H287Q	unknown	Het
Or8b37	T	A	9: 37,959,000 (GRCm39)	C161S	probably benign	Het
Osbpl7	T	A	11: 96,947,405 (GRCm39)	S480T	probably benign	Het
Podnl1	T	C	8: 84,858,552 (GRCm39)	L484P		Het
Polr3gl	G	T	3: 96,489,228 (GRCm39)		probably benign	Het
Prkaa1	G	T	15: 5,206,563 (GRCm39)	V438L	possibly damaging	Het
Prune2	A	T	19: 17,100,373 (GRCm39)	H1959L	probably benign	Het
Rad50	A	T	11: 53,589,685 (GRCm39)	L172*	probably null	Het
Samsn1	C	A	16: 75,685,684 (GRCm39)	G25W	probably damaging	Het
Sbno1	T	G	5: 124,542,068 (GRCm39)	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Slc35f5	T	G	1: 125,490,252 (GRCm39)	Y49*	probably null	Het
Slc41a2	T	C	10: 83,137,044 (GRCm39)	I288V	probably benign	Het
Slc9c1	A	G	16: 45,403,344 (GRCm39)	M804V	probably benign	Het
Smc6	T	A	12: 11,324,052 (GRCm39)	S66T	probably benign	Het
Ssh1	T	C	5: 114,080,445 (GRCm39)	D995G	probably benign	Het
Stk11	G	T	10: 79,961,740 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,748,353 (GRCm39)	I813T	probably benign	Het
Tmem121b	A	T	6: 120,469,722 (GRCm39)	S332T	possibly damaging	Het
Treml4	A	C	17: 48,581,456 (GRCm39)	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524 (GRCm39)	C1117*	probably null	Het
Wdr35	A	G	12: 9,058,020 (GRCm39)	I526V	probably benign	Het
Zap70	T	C	1: 36,820,218 (GRCm39)	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,357 (GRCm39)	V49F	noncoding transcript	Het

Other mutations in Kcne2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02703:Kcne2	APN	16	92,093,838 (GRCm39)	missense	possibly damaging	0.67
R2571:Kcne2	UTSW	16	92,093,800 (GRCm39)	missense	probably damaging	1.00
R6675:Kcne2	UTSW	16	92,093,512 (GRCm39)	missense	probably benign	0.00
R7353:Kcne2	UTSW	16	92,093,710 (GRCm39)	missense	possibly damaging	0.94
Z1176:Kcne2	UTSW	16	92,093,479 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTATATGGACAGCTGGAGGAG -3'
(R):5'- AGGAACTAGCTGTCTTCTGAGC -3'

Sequencing Primer
(F):5'- GGAACACGACAGCCGAG -3'
(R):5'- CTGTCTTCTGAGCAAGCACAAGTG -3'

Posted On

2020-07-28