Incidental Mutation 'IGL02703:Kcne2'
ID304204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcne2
Ensembl Gene ENSMUSG00000039672
Gene Namepotassium voltage-gated channel, Isk-related subfamily, gene 2
SynonymsMiRP1, 2200002I16Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02703
Quality Score
Status
Chromosome16
Chromosomal Location92292389-92298129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92296950 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000109604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047383] [ENSMUST00000063641] [ENSMUST00000113971] [ENSMUST00000118064]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047383
AA Change: S122P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048849
Gene: ENSMUSG00000039672
AA Change: S122P

DomainStartEndE-ValueType
Pfam:ISK_Channel 9 116 4.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063641
SMART Domains Protein: ENSMUSP00000070724
Gene: ENSMUSG00000051989

DomainStartEndE-ValueType
Pfam:FAM165 4 55 1.6e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113971
AA Change: S122P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109604
Gene: ENSMUSG00000039672
AA Change: S122P

DomainStartEndE-ValueType
Pfam:ISK_Channel 29 116 1.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118064
SMART Domains Protein: ENSMUSP00000113086
Gene: ENSMUSG00000051989

DomainStartEndE-ValueType
Pfam:FAM165 4 55 1.6e-29 PFAM
Coding Region Coverage
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, 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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in Kcne2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2571:Kcne2 UTSW 16 92296912 missense probably damaging 1.00
R6675:Kcne2 UTSW 16 92296624 missense probably benign 0.00
R7353:Kcne2 UTSW 16 92296822 missense possibly damaging 0.94
R8289:Kcne2 UTSW 16 92296819 missense probably damaging 1.00
Z1176:Kcne2 UTSW 16 92296591 missense probably benign 0.01
Posted On2015-04-16