Incidental Mutation 'R7332:Kcna6'
ID 569294
Institutional Source Beutler Lab
Gene Symbol Kcna6
Ensembl Gene ENSMUSG00000038077
Gene Name potassium voltage-gated channel, shaker-related, subfamily, member 6
Synonyms Kv1.6, MK1.6
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126685292-126717610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126716292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 199 (F199S)
Ref Sequence ENSEMBL: ENSMUSP00000139481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040751] [ENSMUST00000112242] [ENSMUST00000185333]
AlphaFold Q61923
Predicted Effect possibly damaging
Transcript: ENSMUST00000040751
AA Change: F199S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036872
Gene: ENSMUSG00000038077
AA Change: F199S

DomainStartEndE-ValueType
BTB 41 141 3.64e-9 SMART
transmembrane domain 175 197 N/A INTRINSIC
low complexity region 223 230 N/A INTRINSIC
low complexity region 240 257 N/A INTRINSIC
Pfam:Ion_trans 265 457 3.6e-36 PFAM
Pfam:Ion_trans_2 377 462 8.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112242
AA Change: F199S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107861
Gene: ENSMUSG00000038077
AA Change: F199S

DomainStartEndE-ValueType
BTB 41 141 3.64e-9 SMART
Pfam:Ion_trans 173 469 6.1e-52 PFAM
Pfam:Ion_trans_2 377 462 3.8e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000185333
AA Change: F199S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139481
Gene: ENSMUSG00000038077
AA Change: F199S

DomainStartEndE-ValueType
BTB 41 141 3.64e-9 SMART
transmembrane domain 175 197 N/A INTRINSIC
low complexity region 223 230 N/A INTRINSIC
low complexity region 240 257 N/A INTRINSIC
Pfam:Ion_trans 265 457 3.6e-36 PFAM
Pfam:Ion_trans_2 377 462 8.1e-14 PFAM
Meta Mutation Damage Score 0.9695 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased thermal nociceptive threshold and in females an increase in circulating triglyceride levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C probably damaging Het
Other mutations in Kcna6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Kcna6 APN 6 126,715,576 (GRCm39) missense probably damaging 1.00
IGL01623:Kcna6 APN 6 126,715,576 (GRCm39) missense probably damaging 1.00
IGL02385:Kcna6 APN 6 126,715,917 (GRCm39) missense probably benign
IGL02452:Kcna6 APN 6 126,715,443 (GRCm39) missense possibly damaging 0.57
IGL02480:Kcna6 APN 6 126,715,531 (GRCm39) missense probably damaging 1.00
IGL02604:Kcna6 APN 6 126,716,167 (GRCm39) missense probably benign 0.17
IGL02794:Kcna6 APN 6 126,715,515 (GRCm39) missense probably damaging 1.00
R1599:Kcna6 UTSW 6 126,716,282 (GRCm39) missense probably benign 0.00
R1932:Kcna6 UTSW 6 126,715,451 (GRCm39) missense probably benign 0.16
R1984:Kcna6 UTSW 6 126,715,473 (GRCm39) missense probably benign 0.34
R1985:Kcna6 UTSW 6 126,715,473 (GRCm39) missense probably benign 0.34
R2114:Kcna6 UTSW 6 126,716,322 (GRCm39) missense possibly damaging 0.93
R4111:Kcna6 UTSW 6 126,716,737 (GRCm39) missense probably damaging 1.00
R4112:Kcna6 UTSW 6 126,716,737 (GRCm39) missense probably damaging 1.00
R4793:Kcna6 UTSW 6 126,715,519 (GRCm39) missense probably damaging 1.00
R4818:Kcna6 UTSW 6 126,715,387 (GRCm39) missense probably benign 0.00
R4884:Kcna6 UTSW 6 126,715,689 (GRCm39) missense probably benign 0.08
R5126:Kcna6 UTSW 6 126,715,695 (GRCm39) missense probably damaging 1.00
R5754:Kcna6 UTSW 6 126,716,688 (GRCm39) missense probably damaging 1.00
R6074:Kcna6 UTSW 6 126,716,242 (GRCm39) missense probably benign
R7766:Kcna6 UTSW 6 126,716,682 (GRCm39) missense probably damaging 1.00
R7846:Kcna6 UTSW 6 126,715,983 (GRCm39) missense probably damaging 1.00
R7897:Kcna6 UTSW 6 126,715,761 (GRCm39) missense probably damaging 1.00
R8000:Kcna6 UTSW 6 126,715,948 (GRCm39) nonsense probably null
R8097:Kcna6 UTSW 6 126,715,575 (GRCm39) missense probably damaging 1.00
R8920:Kcna6 UTSW 6 126,716,610 (GRCm39) missense probably damaging 1.00
R9477:Kcna6 UTSW 6 126,716,361 (GRCm39) missense probably damaging 1.00
R9645:Kcna6 UTSW 6 126,716,022 (GRCm39) missense probably benign 0.01
R9662:Kcna6 UTSW 6 126,715,380 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- GGGTCTGTGAAGAAAGAACCCC -3'
(R):5'- CTATCAGTTGGGAGAGGAAGCC -3'

Sequencing Primer
(F):5'- CCGAGAGTACTAAGTGAAGATGTTCC -3'
(R):5'- AGGATGAGGGTTGCCTGCC -3'
Posted On 2019-09-13