Incidental Mutation 'R6271:Kcna3'
ID 507316
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 044379-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 106943485-106945386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106944922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 395 (M395K)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
AlphaFold P16390
Predicted Effect probably damaging
Transcript: ENSMUST00000052718
AA Change: M395K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: M395K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A 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
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'- TAAGGGTTTTCCGCATCTTCAAG -3'
(R):5'- ACGTGCATGTACTGGGCTTG -3'

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