Incidental Mutation 'R0056:Kcng3'
ID18426
Institutional Source Beutler Lab
Gene Symbol Kcng3
Ensembl Gene ENSMUSG00000045053
Gene Namepotassium voltage-gated channel, subfamily G, member 3
SynonymsKv10.1a, Kv10.1b, KV6.3
MMRRC Submission 038350-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location83585957-83631895 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83587756 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 427 (L427P)
Ref Sequence ENSEMBL: ENSMUSP00000054910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051482]
Predicted Effect probably damaging
Transcript: ENSMUST00000051482
AA Change: L427P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: L427P

DomainStartEndE-ValueType
BTB 9 119 5.2e-5 SMART
Pfam:Ion_trans 167 417 4.6e-42 PFAM
Pfam:Ion_trans_2 321 411 4.3e-13 PFAM
Meta Mutation Damage Score 0.4278 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Camkk2 C T 5: 122,742,198 E452K probably damaging Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Etv6 G T 6: 134,248,534 E154* probably null Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gm5346 A T 8: 43,625,503 C561* probably null Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Klk7 T C 7: 43,812,010 L17P possibly damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Ticam2 G T 18: 46,560,334 Q229K possibly damaging Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Kcng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Kcng3 APN 17 83587850 missense probably damaging 1.00
PIT4403001:Kcng3 UTSW 17 83588182 missense probably damaging 1.00
R0034:Kcng3 UTSW 17 83588383 splice site probably benign
R0335:Kcng3 UTSW 17 83587737 missense possibly damaging 0.51
R1224:Kcng3 UTSW 17 83631395 missense probably damaging 1.00
R1462:Kcng3 UTSW 17 83631063 missense probably damaging 0.96
R1601:Kcng3 UTSW 17 83588339 missense probably damaging 1.00
R3147:Kcng3 UTSW 17 83588320 missense possibly damaging 0.71
R4854:Kcng3 UTSW 17 83588306 missense probably damaging 0.97
R5408:Kcng3 UTSW 17 83631005 missense probably benign 0.12
R5719:Kcng3 UTSW 17 83631134 missense possibly damaging 0.71
R5791:Kcng3 UTSW 17 83588210 missense probably benign 0.02
R6155:Kcng3 UTSW 17 83588378 missense probably benign
R6437:Kcng3 UTSW 17 83631129 missense probably damaging 1.00
Posted On2013-03-25