Incidental Mutation 'R6669:Kcna7'
ID 528056
Institutional Source Beutler Lab
Gene Symbol Kcna7
Ensembl Gene ENSMUSG00000038201
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 7
Synonyms Kv1.7
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45055077-45059187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45058988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 425 (V425A)
Ref Sequence ENSEMBL: ENSMUSP00000103403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000107774] [ENSMUST00000210347]
AlphaFold Q17ST2
Predicted Effect probably benign
Transcript: ENSMUST00000058879
SMART Domains Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 50 74 N/A INTRINSIC
NGF 88 201 8.06e-83 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107774
AA Change: V425A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: V425A

DomainStartEndE-ValueType
BTB 45 145 1.77e-7 SMART
Pfam:Ion_trans 174 438 1.7e-52 PFAM
Pfam:Ion_trans_2 346 432 1.7e-13 PFAM
low complexity region 471 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210347
Meta Mutation Damage Score 0.7380 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Kcna7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Kcna7 APN 7 45,055,935 (GRCm39) missense probably damaging 1.00
IGL02477:Kcna7 APN 7 45,059,047 (GRCm39) missense probably benign 0.01
R0373:Kcna7 UTSW 7 45,058,868 (GRCm39) missense probably damaging 1.00
R0624:Kcna7 UTSW 7 45,059,114 (GRCm39) missense probably null 1.00
R0850:Kcna7 UTSW 7 45,058,855 (GRCm39) missense probably damaging 0.99
R1721:Kcna7 UTSW 7 45,056,345 (GRCm39) missense possibly damaging 0.95
R1727:Kcna7 UTSW 7 45,058,930 (GRCm39) missense possibly damaging 0.94
R3040:Kcna7 UTSW 7 45,056,212 (GRCm39) frame shift probably null
R3755:Kcna7 UTSW 7 45,058,369 (GRCm39) missense probably benign 0.00
R5024:Kcna7 UTSW 7 45,056,015 (GRCm39) missense probably damaging 1.00
R5054:Kcna7 UTSW 7 45,056,015 (GRCm39) missense probably damaging 1.00
R5055:Kcna7 UTSW 7 45,056,015 (GRCm39) missense probably damaging 1.00
R5056:Kcna7 UTSW 7 45,056,015 (GRCm39) missense probably damaging 1.00
R5549:Kcna7 UTSW 7 45,056,063 (GRCm39) missense probably damaging 0.98
R7284:Kcna7 UTSW 7 45,058,652 (GRCm39) missense probably damaging 1.00
R7309:Kcna7 UTSW 7 45,058,679 (GRCm39) missense probably damaging 1.00
R8028:Kcna7 UTSW 7 45,058,947 (GRCm39) nonsense probably null
R8326:Kcna7 UTSW 7 45,058,765 (GRCm39) missense probably damaging 1.00
R9719:Kcna7 UTSW 7 45,056,390 (GRCm39) missense probably benign
R9744:Kcna7 UTSW 7 45,056,402 (GRCm39) missense probably benign
Z1088:Kcna7 UTSW 7 45,058,529 (GRCm39) missense probably damaging 1.00
Z1088:Kcna7 UTSW 7 45,056,383 (GRCm39) missense probably benign 0.21
Z1177:Kcna7 UTSW 7 45,058,607 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCCAGCGCAGTCTACTTTG -3'
(R):5'- AGTTGACCCTCACACCTCAG -3'

Sequencing Primer
(F):5'- CAGCGCAGTCTACTTTGCTGAAG -3'
(R):5'- ACCATGTGTTTCCCTGCAGG -3'
Posted On 2018-07-24