Incidental Mutation 'R7778:Kcna5'
ID 598994
Institutional Source Beutler Lab
Gene Symbol Kcna5
Ensembl Gene ENSMUSG00000045534
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 5
Synonyms Kv1.5
MMRRC Submission 045834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R7778 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126509514-126512375 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 126511768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 120 (L120*)
Ref Sequence ENSEMBL: ENSMUSP00000055673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060972]
AlphaFold Q61762
Predicted Effect probably null
Transcript: ENSMUST00000060972
AA Change: L120*
SMART Domains Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: L120*

DomainStartEndE-ValueType
low complexity region 65 80 N/A INTRINSIC
low complexity region 83 94 N/A INTRINSIC
BTB 111 211 5e-7 SMART
Pfam:Ion_trans 240 516 6.6e-54 PFAM
Pfam:Ion_trans_2 424 509 1.4e-15 PFAM
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
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 ino 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, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal microglial proliferation and nitric oxide release after LPS treatment or facial nerve lesion. Mice homozygous for a knock-in allele exhibit impaired hypoxic pulmonary vasoconstriction, and resistance to drug-induced cardiac QT prolongation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,569,855 (GRCm39) S524P possibly damaging Het
Aplf A C 6: 87,635,184 (GRCm39) probably null Het
Asb5 A C 8: 55,037,827 (GRCm39) H173P Het
Atp6v0a2 A G 5: 124,779,443 (GRCm39) E186G probably damaging Het
Bbs2 A T 8: 94,816,388 (GRCm39) probably null Het
Chrm5 A G 2: 112,310,301 (GRCm39) S272P probably benign Het
Chrna6 T C 8: 27,897,392 (GRCm39) I162V probably damaging Het
Cldn6 T A 17: 23,900,581 (GRCm39) C182S probably damaging Het
Cysltr2 A G 14: 73,267,203 (GRCm39) I169T probably benign Het
Ddx11 T C 17: 66,437,543 (GRCm39) probably null Het
Efhc1 A T 1: 21,049,685 (GRCm39) Y515F probably damaging Het
Elmo1 A G 13: 20,773,812 (GRCm39) probably null Het
Ep300 T C 15: 81,470,887 (GRCm39) S20P unknown Het
Gfpt2 T G 11: 49,715,268 (GRCm39) I421R probably damaging Het
Gm14226 T A 2: 154,866,630 (GRCm39) C196S possibly damaging Het
Grm8 T C 6: 27,363,671 (GRCm39) R615G possibly damaging Het
Hic1 C T 11: 75,057,042 (GRCm39) V616M possibly damaging Het
Ing1 A G 8: 11,611,814 (GRCm39) E178G probably benign Het
Kansl3 A T 1: 36,387,758 (GRCm39) L530H probably damaging Het
Kcnt1 T G 2: 25,791,901 (GRCm39) I617S probably benign Het
Lama1 T A 17: 68,111,468 (GRCm39) S2240T Het
Lcn2 T C 2: 32,277,927 (GRCm39) D55G probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Matn2 A T 15: 34,399,223 (GRCm39) H370L possibly damaging Het
Mettl23 T G 11: 116,740,096 (GRCm39) V189G probably benign Het
Mpp4 G A 1: 59,162,672 (GRCm39) T543M not run Het
Odf4 A T 11: 68,812,898 (GRCm39) S253R probably benign Het
Or10d4 C A 9: 39,580,534 (GRCm39) F60L possibly damaging Het
Or11h23 G T 14: 50,947,928 (GRCm39) C47F possibly damaging Het
Or7d9 A G 9: 20,193,708 (GRCm39) probably benign Het
Or8b36 T A 9: 37,937,963 (GRCm39) I287N probably damaging Het
Or8g21 T A 9: 38,906,203 (GRCm39) H176L probably damaging Het
Pcdha11 A T 18: 37,145,733 (GRCm39) Y608F possibly damaging Het
Pcdhga5 A G 18: 37,828,578 (GRCm39) D342G probably damaging Het
Pde6d A G 1: 86,471,250 (GRCm39) S143P probably damaging Het
Plec A T 15: 76,061,135 (GRCm39) I2934N probably damaging Het
Primpol G T 8: 47,039,459 (GRCm39) P387Q probably damaging Het
Prkcd C T 14: 30,327,772 (GRCm39) probably null Het
Prph2 T C 17: 47,221,732 (GRCm39) L37S possibly damaging Het
Prrt4 A G 6: 29,177,718 (GRCm39) L17P probably damaging Het
Pycr3 T C 15: 75,790,138 (GRCm39) D171G probably damaging Het
Rapsn A G 2: 90,875,293 (GRCm39) T359A probably benign Het
Setd6 A T 8: 96,442,866 (GRCm39) H101L probably benign Het
Sez6 T C 11: 77,865,375 (GRCm39) S671P probably damaging Het
Son T C 16: 91,453,416 (GRCm39) L721S probably damaging Het
Spata31d1b A T 13: 59,865,047 (GRCm39) R732W possibly damaging Het
Srd5a3 T A 5: 76,302,618 (GRCm39) F328I probably damaging Het
Tfap2b G A 1: 19,304,531 (GRCm39) G447D probably damaging Het
Thoc3 A C 13: 54,611,591 (GRCm39) F232C probably damaging Het
Tmem69 A G 4: 116,410,595 (GRCm39) L125P probably damaging Het
Tnfsf13 C T 11: 69,575,989 (GRCm39) V33M probably damaging Het
Togaram2 T A 17: 72,011,746 (GRCm39) M476K probably benign Het
Tube1 A G 10: 39,018,294 (GRCm39) I124V probably benign Het
Uevld A T 7: 46,576,100 (GRCm39) I462N probably damaging Het
Utrn G A 10: 12,362,354 (GRCm39) R2660C probably damaging Het
Vcan T C 13: 89,836,773 (GRCm39) T2924A probably damaging Het
Vmn2r120 T C 17: 57,832,942 (GRCm39) Y79C probably damaging Het
Vwa8 T C 14: 79,275,587 (GRCm39) V790A probably benign Het
Zfp874b A G 13: 67,622,093 (GRCm39) F402L probably benign Het
Zfp936 A G 7: 42,839,720 (GRCm39) T396A possibly damaging Het
Zfp978 T C 4: 147,469,760 (GRCm39) probably null Het
Other mutations in Kcna5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Kcna5 APN 6 126,511,472 (GRCm39) missense probably damaging 1.00
H8562:Kcna5 UTSW 6 126,510,386 (GRCm39) missense probably damaging 0.98
R0137:Kcna5 UTSW 6 126,510,346 (GRCm39) missense probably damaging 1.00
R0881:Kcna5 UTSW 6 126,511,957 (GRCm39) missense probably benign
R1436:Kcna5 UTSW 6 126,511,724 (GRCm39) missense probably damaging 0.99
R1561:Kcna5 UTSW 6 126,511,546 (GRCm39) missense probably damaging 1.00
R1730:Kcna5 UTSW 6 126,510,823 (GRCm39) missense probably damaging 1.00
R1783:Kcna5 UTSW 6 126,510,823 (GRCm39) missense probably damaging 1.00
R3940:Kcna5 UTSW 6 126,510,614 (GRCm39) missense probably damaging 1.00
R4276:Kcna5 UTSW 6 126,510,329 (GRCm39) missense probably damaging 1.00
R4372:Kcna5 UTSW 6 126,510,320 (GRCm39) makesense probably null
R4562:Kcna5 UTSW 6 126,511,303 (GRCm39) missense probably benign 0.00
R5130:Kcna5 UTSW 6 126,511,496 (GRCm39) missense probably benign 0.01
R5137:Kcna5 UTSW 6 126,510,946 (GRCm39) missense probably damaging 1.00
R5388:Kcna5 UTSW 6 126,511,859 (GRCm39) missense probably benign 0.04
R5890:Kcna5 UTSW 6 126,511,699 (GRCm39) missense probably damaging 1.00
R7159:Kcna5 UTSW 6 126,510,592 (GRCm39) missense probably damaging 1.00
R7162:Kcna5 UTSW 6 126,510,806 (GRCm39) missense possibly damaging 0.87
R7322:Kcna5 UTSW 6 126,510,754 (GRCm39) missense possibly damaging 0.83
R7353:Kcna5 UTSW 6 126,511,808 (GRCm39) missense probably benign 0.00
R7695:Kcna5 UTSW 6 126,511,174 (GRCm39) missense probably damaging 1.00
R7775:Kcna5 UTSW 6 126,511,768 (GRCm39) nonsense probably null
R7894:Kcna5 UTSW 6 126,512,011 (GRCm39) missense probably damaging 0.96
R7905:Kcna5 UTSW 6 126,511,831 (GRCm39) missense probably benign
R7961:Kcna5 UTSW 6 126,510,517 (GRCm39) missense probably benign
R8009:Kcna5 UTSW 6 126,510,517 (GRCm39) missense probably benign
R8388:Kcna5 UTSW 6 126,511,588 (GRCm39) missense probably benign 0.08
R9725:Kcna5 UTSW 6 126,511,844 (GRCm39) missense probably benign
Z1176:Kcna5 UTSW 6 126,510,679 (GRCm39) missense probably damaging 1.00
Z1177:Kcna5 UTSW 6 126,510,953 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGGGAGACATTGACCG -3'
(R):5'- ACGGCTGGACTCAATAATCAG -3'

Sequencing Primer
(F):5'- AGACATTGACCGGCCTGC -3'
(R):5'- AACATCACCGAGGAGGCGC -3'
Posted On 2019-11-26