Incidental Mutation 'R6261:Kcna3'
ID 506683
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 044404-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 106943485-106945386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106945266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 510 (T510A)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
AlphaFold P16390
Predicted Effect possibly damaging
Transcript: ENSMUST00000052718
AA Change: T510A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: T510A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070085
SMART Domains Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145

DomainStartEndE-ValueType
low complexity region 79 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182414
Meta Mutation Damage Score 0.0566 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Map2k5 G T 9: 63,245,380 (GRCm39) L140I probably benign Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging 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
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
R8676:Kcna3 UTSW 3 106,943,908 (GRCm39) missense probably damaging 0.97
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'- AAGCCCAGTACATGCACGTG -3'
(R):5'- CCTGTTTCAGTATGAAGCAATAGGG -3'

Sequencing Primer
(F):5'- ACATGCACGTGGGCAGTTG -3'
(R):5'- AAGTGTGCTTCCTCACTTCTTGTAC -3'
Posted On 2018-03-15