Incidental Mutation 'R7897:Kcne3'
ID 609751
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 045949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7897 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99825714-99834076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 99833520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 46 (R46G)
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 benign
Transcript: ENSMUST00000049333
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039353
Gene: ENSMUSG00000035165
AA Change: R46G

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170954
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130019
Gene: ENSMUSG00000035165
AA Change: R46G

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178946
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136616
Gene: ENSMUSG00000035165
AA Change: R46G

DomainStartEndE-ValueType
Pfam:ISK_Channel 20 101 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179842
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136415
Gene: ENSMUSG00000035165
AA Change: R46G

DomainStartEndE-ValueType
Pfam:ISK_Channel 36 101 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207358
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207995
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208260
AA Change: R46G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 TGTTGATCCATA T 2: 69,154,216 (GRCm39) probably null Het
Abcb11 GTTGATCCATACA G 2: 69,154,217 (GRCm39) probably benign Het
Abcc10 T C 17: 46,634,999 (GRCm39) T335A probably benign Het
Actr3b T C 5: 26,036,657 (GRCm39) Y245H probably benign Het
Afm G A 5: 90,695,727 (GRCm39) M411I probably benign Het
Ahr T C 12: 35,554,169 (GRCm39) N650S possibly damaging Het
Ap5m1 A G 14: 49,311,232 (GRCm39) R101G probably benign Het
Armcx5 AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA X: 134,646,453 (GRCm39) probably benign Het
Atp13a4 T C 16: 29,215,284 (GRCm39) Q1151R Het
Bcl9 A G 3: 97,112,567 (GRCm39) V1296A possibly damaging Het
Bsn A C 9: 107,989,065 (GRCm39) M2229R probably damaging Het
Cfap74 T C 4: 155,514,351 (GRCm39) V529A Het
Clip1 C T 5: 123,760,861 (GRCm39) V767M probably benign Het
Col6a5 A G 9: 105,766,382 (GRCm39) I1846T possibly damaging Het
Crisp1 A T 17: 40,618,656 (GRCm39) D68E probably benign Het
Csmd1 A T 8: 17,584,935 (GRCm39) L19Q possibly damaging Het
Cul7 T C 17: 46,968,931 (GRCm39) I892T probably benign Het
Efcab3 A T 11: 104,889,061 (GRCm39) Y4159F probably benign Het
Elavl3 G A 9: 21,929,846 (GRCm39) R353C probably damaging Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fbxo3 A G 2: 103,883,757 (GRCm39) D327G possibly damaging Het
Galr1 T C 18: 82,424,256 (GRCm39) N7S probably benign Het
Glyatl3 T C 17: 41,215,802 (GRCm39) T235A probably damaging Het
Gm5145 A C 17: 20,790,967 (GRCm39) Q115P probably benign Het
Grm5 T C 7: 87,780,069 (GRCm39) S1202P probably benign Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Jmjd1c A G 10: 67,075,644 (GRCm39) N1837S probably damaging Het
Jph3 A T 8: 122,516,136 (GRCm39) probably null Het
Kcna6 A G 6: 126,715,761 (GRCm39) L376P probably damaging Het
Kcnq2 T C 2: 180,722,934 (GRCm39) D842G probably damaging Het
Klhl12 A T 1: 134,386,219 (GRCm39) I4F probably benign Het
Kpna1 T A 16: 35,854,235 (GRCm39) I525N probably benign Het
Krtap31-1 T C 11: 99,798,949 (GRCm39) C51R possibly damaging Het
Ms4a12 C T 19: 11,207,723 (GRCm39) G61D possibly damaging Het
Nol4 T C 18: 22,956,400 (GRCm39) N115D Het
Nudt16l2 A C 9: 105,021,709 (GRCm39) Y112* probably null Het
Pcdh15 A G 10: 74,289,827 (GRCm39) Y882C probably damaging Het
Pde8b T A 13: 95,244,202 (GRCm39) H79L probably benign Het
Pdia2 T C 17: 26,417,207 (GRCm39) E79G probably benign Het
Pgap1 A T 1: 54,590,167 (GRCm39) F90L probably damaging Het
Pik3cd T A 4: 149,741,726 (GRCm39) T407S probably benign Het
Pkd1l2 G T 8: 117,724,827 (GRCm39) F2361L possibly damaging Het
Pla2g12b A T 10: 59,246,816 (GRCm39) R77* probably null Het
Ppfia2 A G 10: 106,655,399 (GRCm39) Y322C probably damaging Het
Psg23 T C 7: 18,341,108 (GRCm39) Q382R possibly damaging Het
Ptprq A G 10: 107,546,484 (GRCm39) V270A probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Robo2 T C 16: 73,695,838 (GRCm39) E1431G probably benign Het
Sdk2 A G 11: 113,764,027 (GRCm39) I253T possibly damaging Het
Sox9 A C 11: 112,675,635 (GRCm39) I275L probably benign Het
Tlr4 A G 4: 66,758,058 (GRCm39) I284V probably benign Het
Unc13b A G 4: 43,171,860 (GRCm39) D896G unknown Het
Usp48 A T 4: 137,371,739 (GRCm39) H955L probably damaging Het
Vps54 T C 11: 21,213,307 (GRCm39) I30T probably benign Het
Zfp106 G A 2: 120,366,096 (GRCm39) R59* probably null Het
Zmym4 A T 4: 126,783,332 (GRCm39) D1169E possibly damaging Het
Zscan2 T A 7: 80,525,448 (GRCm39) Y390N 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
R9418:Kcne3 UTSW 7 99,833,385 (GRCm39) start codon destroyed probably null 0.99
Predicted Primers PCR Primer
(F):5'- GGAAGTTGTTCACGACATGGG -3'
(R):5'- CATAGACACACGGTTCTTGATG -3'

Sequencing Primer
(F):5'- TTGTTCACGACATGGGTAAAAAGCC -3'
(R):5'- GACACACGGTTCTTGATGTACAC -3'
Posted On 2019-12-20