Incidental Mutation 'R5388:Kcna5'
ID 425407
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 042960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5388 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 126509514-126512375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126511859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 90 (D90N)
Ref Sequence ENSEMBL: ENSMUSP00000055673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060972]
AlphaFold Q61762
Predicted Effect probably benign
Transcript: ENSMUST00000060972
AA Change: D90N

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: D90N

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 0.3743 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (57/58)
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,969 (GRCm39) probably null Het
Acap2 C A 16: 30,928,543 (GRCm39) C475F probably damaging Het
Ace C A 11: 105,879,284 (GRCm39) P603Q possibly damaging Het
Adamts20 C G 15: 94,243,659 (GRCm39) V657L possibly damaging Het
Antxr2 A G 5: 98,125,458 (GRCm39) probably null Het
Atp6v1b2 G A 8: 69,554,089 (GRCm39) V89I probably benign Het
Cacna1e G A 1: 154,353,542 (GRCm39) P676L probably damaging Het
Camsap3 A T 8: 3,654,276 (GRCm39) I649F probably damaging Het
Camta1 G T 4: 151,159,695 (GRCm39) S490R probably damaging Het
Celsr1 A G 15: 85,809,719 (GRCm39) I2221T probably damaging Het
Cfd A T 10: 79,727,959 (GRCm39) D164V probably damaging Het
Cfdp1 T C 8: 112,495,384 (GRCm39) D278G probably damaging Het
Cntn6 A T 6: 104,809,523 (GRCm39) L519F probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Cybrd1 T C 2: 70,967,989 (GRCm39) probably null Het
Cyp2e1 T C 7: 140,343,906 (GRCm39) L48P probably damaging Het
Eddm13 T C 7: 6,269,346 (GRCm39) probably null Het
Ep400 G A 5: 110,849,594 (GRCm39) T1409I unknown Het
Exosc7 A T 9: 122,947,972 (GRCm39) D47V probably damaging Het
Fgr T C 4: 132,722,342 (GRCm39) F204L probably damaging Het
Gm10100 G A 10: 77,562,560 (GRCm39) V81M probably benign Het
Gm12367 T C 4: 35,235,690 (GRCm39) noncoding transcript Het
Grxcr1 C A 5: 68,323,538 (GRCm39) T272K probably damaging Het
Kdm5b T A 1: 134,536,635 (GRCm39) Y618* probably null Het
Lama5 T A 2: 179,832,539 (GRCm39) H1670L possibly damaging Het
Mtus2 C T 5: 148,243,518 (GRCm39) Q113* probably null Het
Ncam1 A C 9: 49,456,054 (GRCm39) D521E probably benign Het
Nkapl T C 13: 21,651,740 (GRCm39) H291R possibly damaging Het
Nlrp1b T G 11: 71,062,967 (GRCm39) N695H probably damaging Het
Npc1l1 T A 11: 6,164,733 (GRCm39) Q1105H probably damaging Het
Paxip1 C G 5: 27,986,453 (GRCm39) probably benign Het
Pign A T 1: 105,583,695 (GRCm39) W136R probably damaging Het
Pira1 T C 7: 3,741,856 (GRCm39) T175A possibly damaging Het
Pkn3 T A 2: 29,971,086 (GRCm39) S222T probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppfibp1 T A 6: 146,898,338 (GRCm39) I98N probably damaging Het
Ppfibp1 T G 6: 146,917,828 (GRCm39) S484A probably damaging Het
Ppp1r7 T C 1: 93,280,312 (GRCm39) F127L probably damaging Het
Pramel1 T C 4: 143,123,954 (GRCm39) Y210H probably benign Het
Rad21l C T 2: 151,495,403 (GRCm39) V427I probably benign Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf225 A G 7: 12,661,932 (GRCm39) D37G probably damaging Het
Smpd2 A G 10: 41,363,967 (GRCm39) probably null Het
Spata31h1 T C 10: 82,119,561 (GRCm39) Q4483R probably damaging Het
Tmem38b C T 4: 53,859,945 (GRCm39) R242W probably benign Het
Topaz1 A T 9: 122,603,158 (GRCm39) K1035I possibly damaging Het
Trhr T C 15: 44,060,873 (GRCm39) I131T possibly damaging Het
Usp1 A G 4: 98,819,294 (GRCm39) D252G probably benign Het
Usp14 C T 18: 10,018,023 (GRCm39) E90K probably damaging Het
Yme1l1 T G 2: 23,052,569 (GRCm39) D74E probably benign Het
Ythdc2 T A 18: 44,990,092 (GRCm39) L732Q possibly damaging Het
Zbbx G T 3: 74,990,977 (GRCm39) A289D probably damaging Het
Zfhx3 G A 8: 109,673,446 (GRCm39) V1499I possibly damaging Het
Zfp622 T C 15: 25,996,285 (GRCm39) V184A possibly damaging 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
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
R7778: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'- AAGTAGCGCAGGCGTTTGAC -3'
(R):5'- CAGCAGCTTCTTGACGTCAG -3'

Sequencing Primer
(F):5'- AGGCGTTTGACTGGGTCCC -3'
(R):5'- AGCTTCTTGACGTCAGGACCAG -3'
Posted On 2016-08-04