Incidental Mutation 'R9418:Kcne3'
ID 712173
Institutional Source Beutler Lab
Gene Symbol Kcne3
Ensembl Gene ENSMUSG00000035165
Gene Name potassium voltage-gated channel, Isk-related subfamily, gene 3
Synonyms 2210017H05Rik, MiRP2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9418 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99825714-99834076 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 99833385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000039353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049333] [ENSMUST00000170954] [ENSMUST00000178946] [ENSMUST00000179842] [ENSMUST00000207358] [ENSMUST00000207995] [ENSMUST00000208260]
AlphaFold Q9WTW2
Predicted Effect probably null
Transcript: ENSMUST00000049333
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039353
Gene: ENSMUSG00000035165
AA Change: M1V

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170954
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130019
Gene: ENSMUSG00000035165
AA Change: M1V

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178946
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136616
Gene: ENSMUSG00000035165
AA Change: M1V

DomainStartEndE-ValueType
Pfam:ISK_Channel 20 101 1.3e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179842
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136415
Gene: ENSMUSG00000035165
AA Change: M1V

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000207358
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000207995
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably null
Transcript: ENSMUST00000208260
AA Change: M1V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased cAMP-stimulated electrogenic Cl- secretion across tracheal and intestinal epithelia. Another knock-out allele shows age-dependent alterations in action potential and firing properties of spiral ganglion neurons in the cochlea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,317 (GRCm39) G401R probably damaging Het
Adgrf5 G A 17: 43,737,864 (GRCm39) V233I probably benign Het
Ankrd34b A G 13: 92,575,232 (GRCm39) K155E probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc141 A T 2: 76,871,766 (GRCm39) H839Q probably benign Het
Ccdc18 T C 5: 108,303,669 (GRCm39) L251P probably damaging Het
Ciita G T 16: 10,319,765 (GRCm39) E63* probably null Het
Cmya5 T C 13: 93,226,209 (GRCm39) T2960A probably benign Het
Cyp2b13 A T 7: 25,761,110 (GRCm39) I56F probably benign Het
Dcaf4 A T 12: 83,586,606 (GRCm39) Y422F probably benign Het
Dhrs7b A T 11: 60,746,594 (GRCm39) I228F probably damaging Het
Drosha T C 15: 12,885,167 (GRCm39) S853P probably benign Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Fap G A 2: 62,385,181 (GRCm39) Q65* probably null Het
Fbxo47 T A 11: 97,747,067 (GRCm39) N333I possibly damaging Het
Fem1al C T 11: 29,774,632 (GRCm39) C275Y probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gpr171 T C 3: 59,004,999 (GRCm39) T259A possibly damaging Het
Hectd2 T A 19: 36,589,574 (GRCm39) S595T probably benign Het
Hexa A G 9: 59,464,592 (GRCm39) I161V probably benign Het
Hira A G 16: 18,770,025 (GRCm39) T777A probably benign Het
Il2ra T C 2: 11,689,203 (GRCm39) F244S possibly damaging Het
Kcnj1 G A 9: 32,308,203 (GRCm39) C209Y probably damaging Het
Kcnj2 A T 11: 110,963,357 (GRCm39) I250F probably damaging Het
Krt26 C T 11: 99,228,741 (GRCm39) probably benign Het
Leng9 T C 7: 4,151,354 (GRCm39) T441A probably benign Het
Lingo2 T C 4: 35,709,035 (GRCm39) H315R probably benign Het
Lrrc7 A T 3: 157,908,023 (GRCm39) S266T possibly damaging Het
Mab21l4 A C 1: 93,087,710 (GRCm39) L48V probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mrc1 T C 2: 14,234,358 (GRCm39) V12A probably benign Het
Mta1 G T 12: 113,094,987 (GRCm39) R415L probably damaging Het
Mug2 T A 6: 122,017,700 (GRCm39) V479E probably benign Het
Mylk3 C A 8: 86,091,444 (GRCm39) M120I possibly damaging Het
Or13c7c C T 4: 43,835,879 (GRCm39) V204M probably benign Het
Or2v2 G T 11: 49,004,484 (GRCm39) P23Q probably benign Het
Otog A T 7: 45,938,024 (GRCm39) Q1911L probably benign Het
Pcdh20 C T 14: 88,705,455 (GRCm39) C615Y probably benign Het
Pde1b A G 15: 103,433,464 (GRCm39) H294R probably damaging Het
Phldb3 A T 7: 24,328,354 (GRCm39) I633F probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pip5k1b A G 19: 24,327,581 (GRCm39) V425A probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Rab23 A T 1: 33,777,424 (GRCm39) E179D probably benign Het
Slc12a6 C A 2: 112,174,555 (GRCm39) L522I Het
Slc22a19 A T 19: 7,660,210 (GRCm39) M400K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spsb2 C A 6: 124,786,282 (GRCm39) A5D probably damaging Het
Tgfb1 A G 7: 25,391,952 (GRCm39) E169G probably damaging Het
Tm4sf5 T A 11: 70,401,134 (GRCm39) C117S probably damaging Het
Tmcc3 T C 10: 94,415,087 (GRCm39) L294P possibly damaging Het
Ubc T C 5: 125,464,466 (GRCm39) Y287C probably damaging Het
Uroc1 G T 6: 90,313,880 (GRCm39) V56F probably benign Het
Ush1c A T 7: 45,872,292 (GRCm39) F237I probably damaging Het
Xxylt1 A T 16: 30,826,624 (GRCm39) Y230* probably null Het
Zfp467 A T 6: 48,415,990 (GRCm39) C221S probably damaging Het
Other mutations in Kcne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Kcne3 APN 7 99,833,697 (GRCm39) utr 3 prime probably benign
IGL02499:Kcne3 APN 7 99,833,610 (GRCm39) missense probably benign 0.24
R0632:Kcne3 UTSW 7 99,833,646 (GRCm39) missense probably damaging 1.00
R1743:Kcne3 UTSW 7 99,833,631 (GRCm39) missense probably damaging 1.00
R7897:Kcne3 UTSW 7 99,833,520 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTCTCACCACTGAGTCTGAG -3'
(R):5'- CCACAGTGACGGCAAATAGG -3'

Sequencing Primer
(F):5'- ACCACTGAGTCTGAGGCTTC -3'
(R):5'- CAGTGACGGCAAATAGGAACATGAC -3'
Posted On 2022-05-16