Incidental Mutation 'R5054:Kcna7'
ID 390707
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 042644-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R5054 (G1)
Quality Score 121
Status Validated
Chromosome 7
Chromosomal Location 45055077-45059187 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45056015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 77 (R77H)
Ref Sequence ENSEMBL: ENSMUSP00000103403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107774]
AlphaFold Q17ST2
Predicted Effect probably damaging
Transcript: ENSMUST00000107774
AA Change: R77H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103403
Gene: ENSMUSG00000038201
AA Change: R77H

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
Meta Mutation Damage Score 0.3851 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 94% (67/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,837,315 (GRCm39) Y257H probably damaging Het
Adam28 C T 14: 68,855,164 (GRCm39) C659Y probably damaging Het
Adamtsl2 G A 2: 26,991,732 (GRCm39) E627K probably damaging Het
Atad5 T A 11: 79,985,502 (GRCm39) S196R probably benign Het
Bcam T A 7: 19,490,785 (GRCm39) probably benign Het
Birc6 A G 17: 74,962,320 (GRCm39) H3978R probably damaging Het
Btbd7 T C 12: 102,804,471 (GRCm39) I190V probably benign Het
Ccdc8 T C 7: 16,728,970 (GRCm39) V153A probably damaging Het
Cyp2a5 C G 7: 26,540,529 (GRCm39) R68G probably damaging Het
Dock3 T C 9: 106,815,105 (GRCm39) Y1254C probably damaging Het
Dync2h1 T C 9: 7,085,007 (GRCm39) E2794G possibly damaging Het
Dytn C A 1: 63,700,318 (GRCm39) V271L possibly damaging Het
Eif1ad15 T C 12: 88,288,071 (GRCm39) I61V probably benign Het
Eif2s2 A C 2: 154,734,590 (GRCm39) probably null Het
Fndc7 A G 3: 108,788,663 (GRCm39) S193P probably damaging Het
Fzr1 G A 10: 81,207,253 (GRCm39) probably benign Het
Gm17472 T C 6: 42,957,938 (GRCm39) I69T probably damaging Het
Gmppa C A 1: 75,416,015 (GRCm39) Y137* probably null Het
Gpr45 A G 1: 43,071,809 (GRCm39) I151V probably benign Het
H1f0 G A 15: 78,912,973 (GRCm39) A18T probably damaging Het
Hbb-bh1 C T 7: 103,491,063 (GRCm39) V114I probably benign Het
Impa2 C A 18: 67,439,797 (GRCm39) P98Q probably damaging Het
Kazn T C 4: 141,835,957 (GRCm39) N573D unknown Het
Kcna2 A T 3: 107,011,656 (GRCm39) D79V probably damaging Het
Kif13a A G 13: 46,956,122 (GRCm39) Y561H probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra1 T A 6: 130,352,247 (GRCm39) Q165L probably damaging Het
Mat2b T A 11: 40,570,869 (GRCm39) R318S probably damaging Het
Mgat4d G A 8: 84,094,837 (GRCm39) probably null Het
Mtor T A 4: 148,641,312 (GRCm39) probably null Het
Nostrin A T 2: 69,006,057 (GRCm39) Q247L possibly damaging Het
Obi1 C T 14: 104,745,466 (GRCm39) G70E probably damaging Het
Obscn T C 11: 58,964,443 (GRCm39) E3033G probably damaging Het
Pam C A 1: 97,749,642 (GRCm39) D839Y probably damaging Het
Pds5a A G 5: 65,795,157 (GRCm39) V693A probably damaging Het
Pigo A T 4: 43,021,337 (GRCm39) L535Q probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptar1 G T 19: 23,671,729 (GRCm39) R44L probably damaging Het
Rad51c T C 11: 87,288,580 (GRCm39) H201R probably benign Het
Rims2 A T 15: 39,381,265 (GRCm39) probably null Het
Rpl22l1 T G 3: 28,860,985 (GRCm39) S67A possibly damaging Het
Rps10 A G 17: 27,849,454 (GRCm39) S143P probably damaging Het
Rundc1 T C 11: 101,315,967 (GRCm39) V13A probably benign Het
Sephs2 C A 7: 126,872,564 (GRCm39) M176I probably benign Het
Serpina16 C T 12: 103,641,189 (GRCm39) V179I probably benign Het
Serpini2 T A 3: 75,166,784 (GRCm39) T158S probably damaging Het
Slc12a3 A G 8: 95,072,979 (GRCm39) R701G probably damaging Het
Slc1a6 A G 10: 78,650,436 (GRCm39) E558G probably damaging Het
Ssx2ip T C 3: 146,136,672 (GRCm39) probably benign Het
Tbr1 A T 2: 61,636,346 (GRCm39) I241F possibly damaging Het
Tgfa G C 6: 86,247,064 (GRCm39) probably null Het
Tlr12 T A 4: 128,511,063 (GRCm39) K396* probably null Het
Tmppe A G 9: 114,235,026 (GRCm39) I442V probably benign Het
Tubb3 T C 8: 124,147,607 (GRCm39) V180A probably damaging Het
Vmn1r222 A G 13: 23,416,901 (GRCm39) V104A probably damaging Het
Vmn2r95 G T 17: 18,671,708 (GRCm39) V482L possibly damaging Het
Zfp184 G T 13: 22,143,452 (GRCm39) R386L possibly damaging Het
Zfp444 T A 7: 6,192,792 (GRCm39) V270E probably damaging Het
Zfp985 A T 4: 147,667,438 (GRCm39) Y102F 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
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
R6669:Kcna7 UTSW 7 45,058,988 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2016-06-06