Incidental Mutation 'R6675:Kcne2'
ID 527266
Institutional Source Beutler Lab
Gene Symbol Kcne2
Ensembl Gene ENSMUSG00000039672
Gene Name potassium voltage-gated channel, Isk-related subfamily, gene 2
Synonyms MiRP1, 2200002I16Rik
Accession Numbers
Essential gene? Not available question?
Stock # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 92089277-92095017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92093512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 13 (D13G)
Ref Sequence ENSEMBL: ENSMUSP00000109604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047383] [ENSMUST00000063641] [ENSMUST00000113971] [ENSMUST00000118064]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047383
AA Change: D13G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048849
Gene: ENSMUSG00000039672
AA Change: D13G

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 probably benign
Transcript: ENSMUST00000113971
AA Change: D13G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109604
Gene: ENSMUSG00000039672
AA Change: D13G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 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, 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Iars1 C A 13: 49,873,054 (GRCm39) A713D probably damaging Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,550 (GRCm39) S558T possibly damaging Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Stc2 T A 11: 31,310,307 (GRCm39) D243V probably benign Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zeb2 A T 2: 44,887,457 (GRCm39) Y518* probably null Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T possibly damaging Het
Other mutations in Kcne2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7353:Kcne2 UTSW 16 92,093,710 (GRCm39) missense possibly damaging 0.94
R8289:Kcne2 UTSW 16 92,093,707 (GRCm39) missense probably damaging 1.00
Z1176:Kcne2 UTSW 16 92,093,479 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGGCTTAGAAACTGCGTTC -3'
(R):5'- CCACGATGTACTGGTGGTAC -3'

Sequencing Primer
(F):5'- AGAAACTGCGTTCTCTCCAC -3'
(R):5'- GACTTCACCGTGCTCACCAG -3'
Posted On 2018-07-23