Incidental Mutation 'R4505:Kcnq3'
ID 331988
Institutional Source Beutler Lab
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Name potassium voltage-gated channel, subfamily Q, member 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4505 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 65858236-66158491 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65867191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 817 (Y817*)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably null
Transcript: ENSMUST00000070256
AA Change: Y817*
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: Y817*

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
Pfam:Ion_trans 122 364 9.9e-31 PFAM
Pfam:Ion_trans_2 268 357 3.4e-14 PFAM
Pfam:KCNQ_channel 448 658 1.4e-89 PFAM
Pfam:KCNQC3-Ank-G_bd 771 867 3.8e-41 PFAM
Meta Mutation Damage Score 0.9708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,152,445 (GRCm39) I1367N probably damaging Het
Acbd4 A G 11: 102,995,605 (GRCm39) probably benign Het
Adarb2 A T 13: 8,747,727 (GRCm39) S428C probably damaging Het
Atl3 T A 19: 7,498,184 (GRCm39) D193E probably benign Het
Bhlhe22 T C 3: 18,109,123 (GRCm39) S58P probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Epha10 A G 4: 124,809,480 (GRCm39) probably benign Het
Farp2 A T 1: 93,546,732 (GRCm39) N917I probably damaging Het
Fbh1 A G 2: 11,753,828 (GRCm39) V838A possibly damaging Het
Fras1 T A 5: 96,929,207 (GRCm39) N3870K probably damaging Het
Gm6632 C T 5: 59,211,821 (GRCm39) noncoding transcript Het
Gpr20 T C 15: 73,568,321 (GRCm39) T23A probably benign Het
Grb14 A C 2: 64,852,912 (GRCm39) V26G probably damaging Het
H2-T5 A T 17: 36,472,372 (GRCm39) probably benign Het
Itgb4 G A 11: 115,874,087 (GRCm39) silent Het
Jak1 T C 4: 101,011,800 (GRCm39) T1101A probably benign Het
Krtcap2 A G 3: 89,153,563 (GRCm39) probably benign Het
Lhx5 C A 5: 120,578,073 (GRCm39) H298N possibly damaging Het
Lrig3 C T 10: 125,849,216 (GRCm39) P979S probably benign Het
Map3k13 A G 16: 21,740,928 (GRCm39) S752G probably benign Het
Map4 T C 9: 109,861,253 (GRCm39) S206P probably benign Het
Mon2 A G 10: 122,845,494 (GRCm39) S1405P probably damaging Het
Mvb12a G T 8: 71,996,103 (GRCm39) A86S probably benign Het
Or5p62 T C 7: 107,771,175 (GRCm39) I259V probably benign Het
Or8a1b C T 9: 37,622,760 (GRCm39) V272I probably benign Het
Pithd1 T C 4: 135,706,144 (GRCm39) N37S probably benign Het
Piwil4 T C 9: 14,637,259 (GRCm39) T352A probably damaging Het
Prb1a T A 6: 132,184,533 (GRCm39) R367* probably null Het
Psmb4 A C 3: 94,793,456 (GRCm39) Y142D probably damaging Het
Ptprs T C 17: 56,758,678 (GRCm39) N181S possibly damaging Het
Rcbtb2 T C 14: 73,411,345 (GRCm39) L370P probably damaging Het
Ric8a A G 7: 140,438,429 (GRCm39) I223V probably benign Het
Runx1t1 G T 4: 13,889,676 (GRCm39) C535F probably damaging Het
Samd4b A G 7: 28,106,925 (GRCm39) M329T probably benign Het
Serpinb9g T A 13: 33,670,546 (GRCm39) F11L probably damaging Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Sp110 T G 1: 85,516,894 (GRCm39) Q201P probably damaging Het
Taar3 A G 10: 23,825,471 (GRCm39) I6V possibly damaging Het
Tjp2 T C 19: 24,086,195 (GRCm39) T776A possibly damaging Het
Tmc1 C T 19: 20,845,738 (GRCm39) V162I probably benign Het
Upf1 G A 8: 70,790,216 (GRCm39) R637C probably damaging Het
Ush2a A G 1: 188,460,793 (GRCm39) T2685A possibly damaging Het
Vmn2r102 C T 17: 19,880,845 (GRCm39) T62I probably benign Het
Vps13c A T 9: 67,846,316 (GRCm39) Q2128L probably benign Het
Zfp26 T C 9: 20,353,561 (GRCm39) E76G probably benign Het
Zfp28 T C 7: 6,397,160 (GRCm39) S532P probably damaging Het
Other mutations in Kcnq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Kcnq3 APN 15 65,867,120 (GRCm39) missense probably damaging 1.00
IGL00808:Kcnq3 APN 15 65,867,603 (GRCm39) missense possibly damaging 0.49
IGL00969:Kcnq3 APN 15 65,876,575 (GRCm39) missense probably damaging 1.00
IGL01121:Kcnq3 APN 15 65,877,826 (GRCm39) splice site probably benign
IGL01996:Kcnq3 APN 15 65,895,545 (GRCm39) missense probably damaging 0.98
IGL02153:Kcnq3 APN 15 65,897,040 (GRCm39) missense probably damaging 0.96
IGL02950:Kcnq3 APN 15 65,892,142 (GRCm39) missense probably benign 0.12
IGL02963:Kcnq3 APN 15 66,157,675 (GRCm39) splice site probably benign
IGL03102:Kcnq3 APN 15 65,900,637 (GRCm39) missense probably damaging 1.00
IGL03050:Kcnq3 UTSW 15 65,897,027 (GRCm39) missense possibly damaging 0.52
R0345:Kcnq3 UTSW 15 65,892,154 (GRCm39) missense possibly damaging 0.55
R0388:Kcnq3 UTSW 15 65,871,887 (GRCm39) missense probably benign 0.00
R0730:Kcnq3 UTSW 15 65,867,457 (GRCm39) missense probably benign
R1173:Kcnq3 UTSW 15 65,871,891 (GRCm39) missense probably benign 0.01
R1610:Kcnq3 UTSW 15 65,897,109 (GRCm39) missense probably damaging 1.00
R1678:Kcnq3 UTSW 15 65,903,281 (GRCm39) missense probably damaging 1.00
R1714:Kcnq3 UTSW 15 65,871,912 (GRCm39) missense probably benign 0.21
R1755:Kcnq3 UTSW 15 65,867,270 (GRCm39) missense probably damaging 1.00
R1768:Kcnq3 UTSW 15 65,877,755 (GRCm39) missense probably damaging 0.98
R1873:Kcnq3 UTSW 15 65,874,104 (GRCm39) missense probably benign 0.16
R1925:Kcnq3 UTSW 15 65,876,658 (GRCm39) missense possibly damaging 0.75
R1970:Kcnq3 UTSW 15 65,900,472 (GRCm39) critical splice donor site probably null
R2140:Kcnq3 UTSW 15 65,877,827 (GRCm39) splice site probably benign
R2141:Kcnq3 UTSW 15 65,867,700 (GRCm39) missense probably benign 0.21
R2149:Kcnq3 UTSW 15 65,895,578 (GRCm39) missense probably damaging 1.00
R2212:Kcnq3 UTSW 15 65,892,142 (GRCm39) missense probably benign
R2272:Kcnq3 UTSW 15 65,900,529 (GRCm39) missense probably damaging 1.00
R2566:Kcnq3 UTSW 15 65,903,276 (GRCm39) missense probably damaging 1.00
R2909:Kcnq3 UTSW 15 65,897,085 (GRCm39) missense possibly damaging 0.87
R3703:Kcnq3 UTSW 15 65,893,588 (GRCm39) critical splice donor site probably null
R3704:Kcnq3 UTSW 15 65,893,588 (GRCm39) critical splice donor site probably null
R3899:Kcnq3 UTSW 15 65,902,372 (GRCm39) missense probably benign 0.01
R4096:Kcnq3 UTSW 15 66,157,664 (GRCm39) splice site probably null
R4421:Kcnq3 UTSW 15 65,867,360 (GRCm39) missense probably benign 0.01
R4504:Kcnq3 UTSW 15 65,867,191 (GRCm39) nonsense probably null
R4571:Kcnq3 UTSW 15 65,902,461 (GRCm39) missense probably damaging 1.00
R4577:Kcnq3 UTSW 15 66,158,063 (GRCm39) missense unknown
R4900:Kcnq3 UTSW 15 65,867,259 (GRCm39) missense probably damaging 1.00
R4981:Kcnq3 UTSW 15 65,903,254 (GRCm39) missense possibly damaging 0.84
R5015:Kcnq3 UTSW 15 65,876,612 (GRCm39) missense probably damaging 1.00
R5049:Kcnq3 UTSW 15 66,157,746 (GRCm39) missense probably benign 0.17
R5245:Kcnq3 UTSW 15 65,903,284 (GRCm39) missense possibly damaging 0.89
R5334:Kcnq3 UTSW 15 65,897,073 (GRCm39) missense probably damaging 1.00
R5528:Kcnq3 UTSW 15 65,897,027 (GRCm39) missense probably damaging 0.97
R5532:Kcnq3 UTSW 15 65,869,622 (GRCm39) nonsense probably null
R5630:Kcnq3 UTSW 15 65,896,971 (GRCm39) missense probably damaging 1.00
R5639:Kcnq3 UTSW 15 65,869,599 (GRCm39) missense probably damaging 0.96
R5936:Kcnq3 UTSW 15 65,871,959 (GRCm39) missense probably damaging 1.00
R6306:Kcnq3 UTSW 15 65,876,643 (GRCm39) missense probably benign 0.40
R6576:Kcnq3 UTSW 15 65,897,027 (GRCm39) missense possibly damaging 0.52
R7006:Kcnq3 UTSW 15 65,892,165 (GRCm39) nonsense probably null
R7403:Kcnq3 UTSW 15 65,874,066 (GRCm39) missense probably damaging 1.00
R8140:Kcnq3 UTSW 15 65,867,390 (GRCm39) missense probably damaging 1.00
R9189:Kcnq3 UTSW 15 65,867,510 (GRCm39) missense probably damaging 1.00
RF045:Kcnq3 UTSW 15 66,158,033 (GRCm39) small deletion probably benign
X0060:Kcnq3 UTSW 15 65,903,235 (GRCm39) missense probably damaging 1.00
Z1177:Kcnq3 UTSW 15 65,867,301 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- ACCCCTTTTAAGTGGGCTTG -3'
(R):5'- ACATATGCAGAGAGGCCCAC -3'

Sequencing Primer
(F):5'- CCCTTTTAAGTGGGCTTGTTGGAAG -3'
(R):5'- CATGTGTGAGCTACCACTCCCAG -3'
Posted On 2015-07-21