Incidental Mutation 'R8676:Kcna3'
ID 661368
Institutional Source Beutler Lab
Gene Symbol Kcna3
Ensembl Gene ENSMUSG00000047959
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 3
Synonyms Kv1.3, Mk-3, Kca1-3
MMRRC Submission 068531-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R8676 (G1)
Quality Score 188.009
Status Validated
Chromosome 3
Chromosomal Location 106943485-106945386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106943908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 57 (E57G)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
AlphaFold P16390
Predicted Effect probably damaging
Transcript: ENSMUST00000052718
AA Change: E57G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: E57G

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
BTB 57 157 6.9e-10 SMART
Pfam:Ion_trans 186 444 4.2e-54 PFAM
Pfam:Ion_trans_2 352 437 2.3e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (54/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G A 4: 144,396,683 (GRCm39) R350C possibly damaging Het
Acsm3 T A 7: 119,374,392 (GRCm39) S281R probably damaging Het
Adipor2 G T 6: 119,340,447 (GRCm39) probably benign Het
Alk T C 17: 72,204,936 (GRCm39) S1079G probably damaging Het
Ankrd27 T C 7: 35,302,009 (GRCm39) probably null Het
Anxa6 C A 11: 54,892,108 (GRCm39) E283* probably null Het
Bnc2 T C 4: 84,194,550 (GRCm39) H858R possibly damaging Het
Btnl6 T C 17: 34,727,043 (GRCm39) S496G probably benign Het
Ccdc88a T C 11: 29,410,860 (GRCm39) S449P probably benign Het
Cdh23 A T 10: 60,246,689 (GRCm39) D916E probably damaging Het
Cfap43 A T 19: 47,736,456 (GRCm39) L1345H possibly damaging Het
Cyld A T 8: 89,456,138 (GRCm39) H396L probably benign Het
Cyp20a1 A G 1: 60,418,579 (GRCm39) T340A possibly damaging Het
Czib A G 4: 107,752,796 (GRCm39) N152D unknown Het
Dera A T 6: 137,807,202 (GRCm39) I217F probably damaging Het
Dnah11 A G 12: 118,154,539 (GRCm39) L247P probably damaging Het
Eftud2 G A 11: 102,759,447 (GRCm39) T152M probably damaging Het
Entrep1 T C 19: 23,965,858 (GRCm39) K214E probably damaging Het
Epb41l2 C T 10: 25,319,674 (GRCm39) T169M probably benign Het
Fam186a T C 15: 99,845,023 (GRCm39) D407G unknown Het
Gli3 T A 13: 15,889,619 (GRCm39) C578S probably damaging Het
Gm6408 A G 5: 146,419,237 (GRCm39) N84S probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Herc2 C A 7: 55,838,361 (GRCm39) T3296K probably damaging Het
Hnf4g A T 3: 3,708,133 (GRCm39) probably benign Het
Hyal4 C A 6: 24,755,826 (GRCm39) Q15K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnc3 C A 7: 44,241,020 (GRCm39) D237E probably benign Het
Map3k8 A G 18: 4,343,137 (GRCm39) V130A probably benign Het
Mpp7 A G 18: 7,440,430 (GRCm39) probably null Het
Mtres1 A G 10: 43,408,933 (GRCm39) L70S probably benign Het
Myh13 T A 11: 67,233,311 (GRCm39) L610Q probably damaging Het
Or13p5 C A 4: 118,592,235 (GRCm39) P170T probably damaging Het
Or5ap2 T A 2: 85,680,246 (GRCm39) M150K probably benign Het
Or8b52 T C 9: 38,577,064 (GRCm39) I25M probably benign Het
Pcdhb5 A T 18: 37,454,129 (GRCm39) T170S probably benign Het
Polr3b T A 10: 84,516,251 (GRCm39) H626Q probably benign Het
Prkg1 A T 19: 31,742,146 (GRCm39) L26Q probably damaging Het
Prob1 T C 18: 35,787,039 (GRCm39) N405S possibly damaging Het
Proz T G 8: 13,123,630 (GRCm39) S300R probably damaging Het
Psg19 A G 7: 18,527,990 (GRCm39) I251T probably benign Het
Rcbtb1 T C 14: 59,467,401 (GRCm39) I413T possibly damaging Het
Rnf144b T A 13: 47,382,452 (GRCm39) Y103N probably damaging Het
Rspry1 G C 8: 95,358,747 (GRCm39) G194R probably benign Het
Scn2b A G 9: 45,036,917 (GRCm39) I142V probably damaging Het
Spata20 A T 11: 94,372,607 (GRCm39) L588H probably damaging Het
Stk32b T A 5: 37,614,503 (GRCm39) H335L probably benign Het
Taar4 A C 10: 23,836,801 (GRCm39) D137A possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tek A T 4: 94,738,074 (GRCm39) H708L probably benign Het
Tmem89 C T 9: 108,744,095 (GRCm39) L132F unknown Het
Ugt2b38 T C 5: 87,559,681 (GRCm39) I404V probably benign Het
Vmn1r16 C T 6: 57,299,814 (GRCm39) M269I probably benign Het
Vmn1r201 A G 13: 22,659,422 (GRCm39) K212R probably damaging Het
Vmn2r11 A C 5: 109,201,626 (GRCm39) F293V probably damaging Het
Zdhhc17 A T 10: 110,798,240 (GRCm39) probably benign Het
Zfp423 C A 8: 88,509,338 (GRCm39) M335I probably benign Het
Zfp74 T C 7: 29,634,079 (GRCm39) Y543C probably damaging Het
Zfp975 A T 7: 42,312,264 (GRCm39) S116R probably benign Het
Other mutations in Kcna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Kcna3 APN 3 106,944,472 (GRCm39) missense probably benign 0.33
IGL00562:Kcna3 APN 3 106,944,046 (GRCm39) missense probably damaging 1.00
IGL01106:Kcna3 APN 3 106,945,180 (GRCm39) missense possibly damaging 0.89
IGL01318:Kcna3 APN 3 106,945,294 (GRCm39) missense probably benign 0.03
IGL02253:Kcna3 APN 3 106,944,727 (GRCm39) missense probably damaging 1.00
IGL03379:Kcna3 APN 3 106,944,521 (GRCm39) missense probably benign 0.05
IGL02802:Kcna3 UTSW 3 106,944,369 (GRCm39) missense probably damaging 0.99
IGL03014:Kcna3 UTSW 3 106,945,206 (GRCm39) missense probably benign 0.00
R0393:Kcna3 UTSW 3 106,944,315 (GRCm39) missense probably damaging 1.00
R1591:Kcna3 UTSW 3 106,944,345 (GRCm39) missense probably damaging 1.00
R1922:Kcna3 UTSW 3 106,945,251 (GRCm39) missense possibly damaging 0.47
R1950:Kcna3 UTSW 3 106,944,988 (GRCm39) missense probably damaging 1.00
R3847:Kcna3 UTSW 3 106,944,012 (GRCm39) missense possibly damaging 0.57
R4912:Kcna3 UTSW 3 106,945,207 (GRCm39) missense probably benign
R6261:Kcna3 UTSW 3 106,945,266 (GRCm39) missense possibly damaging 0.53
R6271:Kcna3 UTSW 3 106,944,922 (GRCm39) missense probably damaging 1.00
R6334:Kcna3 UTSW 3 106,943,740 (GRCm39) start codon destroyed probably null
R6423:Kcna3 UTSW 3 106,944,158 (GRCm39) nonsense probably null
R6850:Kcna3 UTSW 3 106,944,475 (GRCm39) missense probably damaging 1.00
R6901:Kcna3 UTSW 3 106,943,884 (GRCm39) missense probably benign 0.00
R7193:Kcna3 UTSW 3 106,943,853 (GRCm39) missense probably benign 0.02
R7524:Kcna3 UTSW 3 106,944,523 (GRCm39) missense probably damaging 1.00
R9698:Kcna3 UTSW 3 106,944,405 (GRCm39) missense probably benign
Z1088:Kcna3 UTSW 3 106,944,269 (GRCm39) missense probably damaging 1.00
Z1176:Kcna3 UTSW 3 106,944,582 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCGATCCAGTGACAAAG -3'
(R):5'- CCCGGACTGGTAGTAGTAGAGG -3'

Sequencing Primer
(F):5'- AGCTGCCGCCAGACATGAC -3'
(R):5'- GGATGGCGTCGAAGCTG -3'
Posted On 2021-03-08