Incidental Mutation 'R4571:Kcnq3'
ID 342163
Institutional Source Beutler Lab
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Name potassium voltage-gated channel, subfamily Q, member 3
Synonyms
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 65858236-66158491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65902461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 172 (F172L)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably damaging
Transcript: ENSMUST00000070256
AA Change: F172L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: F172L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183354
Meta Mutation Damage Score 0.2613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P 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
R4505:Kcnq3 UTSW 15 65,867,191 (GRCm39) nonsense probably null
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'- TTTGGCACTCTTCACCCATAAAAC -3'
(R):5'- GACCTGGATTCATTTTGCATAGAGG -3'

Sequencing Primer
(F):5'- TCTTCACCCATAAAACCTTCCTAGAG -3'
(R):5'- GAGCTGTCACAATGGCCAACATG -3'
Posted On 2015-09-24