Incidental Mutation 'R5791:Kcng3'
ID 446994
Institutional Source Beutler Lab
Gene Symbol Kcng3
Ensembl Gene ENSMUSG00000045053
Gene Name potassium voltage-gated channel, subfamily G, member 3
Synonyms KV6.3, Kv10.1a, Kv10.1b
MMRRC Submission 043207-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R5791 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 83893386-83939324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83895639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 276 (S276P)
Ref Sequence ENSEMBL: ENSMUSP00000054910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051482]
AlphaFold P59053
Predicted Effect probably benign
Transcript: ENSMUST00000051482
AA Change: S276P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000054910
Gene: ENSMUSG00000045053
AA Change: S276P

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G C 8: 41,207,257 (GRCm39) Q174H probably benign Het
Adipor2 A T 6: 119,338,866 (GRCm39) M129K possibly damaging Het
Arhgap29 T A 3: 121,807,894 (GRCm39) M616K probably damaging Het
Calcrl A T 2: 84,181,609 (GRCm39) F180I probably damaging Het
Cdh4 T C 2: 179,537,560 (GRCm39) V864A probably damaging Het
Cep78 A G 19: 15,938,436 (GRCm39) F504S probably benign Het
Coasy A G 11: 100,975,211 (GRCm39) probably null Het
Dnah3 T C 7: 119,530,696 (GRCm39) N751S probably benign Het
Ecpas C T 4: 58,814,027 (GRCm39) E1360K possibly damaging Het
Ecpas T A 4: 58,822,111 (GRCm39) D1152V probably damaging Het
Eea1 T A 10: 95,855,857 (GRCm39) N631K probably benign Het
Fam149b A G 14: 20,401,394 (GRCm39) K27R probably damaging Het
Fbxw26 A G 9: 109,574,221 (GRCm39) W42R probably damaging Het
Gas6 A G 8: 13,520,217 (GRCm39) probably null Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gmppa T C 1: 75,418,899 (GRCm39) V324A possibly damaging Het
Gstm2 C T 3: 107,891,444 (GRCm39) probably null Het
Lrrd1 T C 5: 3,901,254 (GRCm39) S520P probably benign Het
Lrrn2 A G 1: 132,865,505 (GRCm39) N190S probably benign Het
Lrwd1 G C 5: 136,159,887 (GRCm39) A392G probably benign Het
Mab21l2 A G 3: 86,454,044 (GRCm39) Y319H probably damaging Het
Ndufv3 A G 17: 31,746,382 (GRCm39) N91D probably benign Het
Nfatc2 T A 2: 168,378,313 (GRCm39) M451L probably benign Het
Or10g9b A T 9: 39,918,030 (GRCm39) S72T probably damaging Het
Pcdhgb2 G T 18: 37,825,393 (GRCm39) V795F possibly damaging Het
Pdcd11 T A 19: 47,099,430 (GRCm39) M843K possibly damaging Het
Pla2g4c T A 7: 13,073,617 (GRCm39) N221K probably benign Het
Ppox T C 1: 171,104,885 (GRCm39) Y422C probably damaging Het
Retreg3 A G 11: 100,991,769 (GRCm39) S55P probably damaging Het
Rnf103 C A 6: 71,485,909 (GRCm39) T180K probably damaging Het
Tbl3 A T 17: 24,923,408 (GRCm39) L307H probably damaging Het
Tex26 A T 5: 149,363,240 (GRCm39) probably null Het
Tln2 A T 9: 67,293,887 (GRCm39) I247K probably damaging Het
Txlnb T C 10: 17,674,876 (GRCm39) S10P probably benign Het
Vwde C A 6: 13,195,985 (GRCm39) E347* probably null Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Zfp14 A G 7: 29,737,687 (GRCm39) S433P probably damaging Het
Zfp647 G T 15: 76,802,206 (GRCm39) A2E unknown Het
Other mutations in Kcng3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Kcng3 APN 17 83,895,279 (GRCm39) missense probably damaging 1.00
PIT4403001:Kcng3 UTSW 17 83,895,611 (GRCm39) missense probably damaging 1.00
R0034:Kcng3 UTSW 17 83,895,812 (GRCm39) splice site probably benign
R0056:Kcng3 UTSW 17 83,895,185 (GRCm39) missense probably damaging 0.98
R0335:Kcng3 UTSW 17 83,895,166 (GRCm39) missense possibly damaging 0.51
R1224:Kcng3 UTSW 17 83,938,824 (GRCm39) missense probably damaging 1.00
R1462:Kcng3 UTSW 17 83,938,492 (GRCm39) missense probably damaging 0.96
R1601:Kcng3 UTSW 17 83,895,768 (GRCm39) missense probably damaging 1.00
R3147:Kcng3 UTSW 17 83,895,749 (GRCm39) missense possibly damaging 0.71
R4854:Kcng3 UTSW 17 83,895,735 (GRCm39) missense probably damaging 0.97
R5408:Kcng3 UTSW 17 83,938,434 (GRCm39) missense probably benign 0.12
R5719:Kcng3 UTSW 17 83,938,563 (GRCm39) missense possibly damaging 0.71
R6155:Kcng3 UTSW 17 83,895,807 (GRCm39) missense probably benign
R6437:Kcng3 UTSW 17 83,938,558 (GRCm39) missense probably damaging 1.00
R8139:Kcng3 UTSW 17 83,938,516 (GRCm39) missense probably damaging 1.00
R8279:Kcng3 UTSW 17 83,895,254 (GRCm39) missense probably damaging 1.00
R8325:Kcng3 UTSW 17 83,939,007 (GRCm39) missense possibly damaging 0.83
R9072:Kcng3 UTSW 17 83,938,423 (GRCm39) missense possibly damaging 0.95
R9073:Kcng3 UTSW 17 83,938,423 (GRCm39) missense possibly damaging 0.95
R9599:Kcng3 UTSW 17 83,895,211 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTGGCGAAATCCTTGTTG -3'
(R):5'- TGACAGGATAATTGAAGCTATCTGC -3'

Sequencing Primer
(F):5'- TGCACTAAAGATTGCCATGGC -3'
(R):5'- AAGCTATCTGCATAGGGTGGTTCAC -3'
Posted On 2016-12-15