Incidental Mutation 'IGL03102:Kcnq3'
ID 418780
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03102
Quality Score
Status
Chromosome 15
Chromosomal Location 65858236-66158491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65900637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 206 (V206A)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably damaging
Transcript: ENSMUST00000070256
AA Change: V206A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: V206A

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
Coding Region Coverage
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,744,804 (GRCm39) probably null Het
Alyref G A 11: 120,488,591 (GRCm39) P79L possibly damaging Het
Arhgap28 T C 17: 68,203,231 (GRCm39) D74G probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdc5l A T 17: 45,718,857 (GRCm39) D586E probably damaging Het
Chd3 G T 11: 69,252,022 (GRCm39) Y79* probably null Het
Cnot3 C A 7: 3,659,155 (GRCm39) S467* probably null Het
Col18a1 A T 10: 76,903,457 (GRCm39) probably benign Het
Col19a1 C A 1: 24,367,134 (GRCm39) G483C probably damaging Het
Col5a3 A C 9: 20,715,931 (GRCm39) probably null Het
Dctn5 A T 7: 121,732,382 (GRCm39) N9I probably benign Het
Emc10 T A 7: 44,141,413 (GRCm39) N225I probably damaging Het
Fam219b A G 9: 57,447,981 (GRCm39) Y158C probably damaging Het
Fras1 T C 5: 96,874,394 (GRCm39) V2273A probably benign Het
Frem3 T A 8: 81,339,661 (GRCm39) H651Q possibly damaging Het
Gm4076 T A 13: 85,275,438 (GRCm39) noncoding transcript Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Ifnab T G 4: 88,609,062 (GRCm39) T135P possibly damaging Het
Jag1 T C 2: 136,926,608 (GRCm39) I979V probably benign Het
Kank1 G T 19: 25,403,282 (GRCm39) M1097I probably damaging Het
Kel T C 6: 41,679,917 (GRCm39) K91R probably benign Het
Kirrel1 G T 3: 86,990,807 (GRCm39) R672S probably damaging Het
Kmt2d A G 15: 98,753,424 (GRCm39) M143T probably benign Het
Kpna1 A G 16: 35,833,289 (GRCm39) I122V probably damaging Het
Lrpap1 A G 5: 35,250,694 (GRCm39) S353P probably damaging Het
Mtfr1l T A 4: 134,259,543 (GRCm39) Q11L probably damaging Het
Muc5b G A 7: 141,416,806 (GRCm39) V3251M probably benign Het
Mup8 C T 4: 60,219,746 (GRCm39) D174N probably benign Het
Nup155 A T 15: 8,176,768 (GRCm39) E1015D probably benign Het
Or10ak14 C A 4: 118,611,131 (GRCm39) L201F probably benign Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
P2rx7 T C 5: 122,801,668 (GRCm39) F188L possibly damaging Het
Pacrg A G 17: 11,058,719 (GRCm39) F13L probably benign Het
Palb2 A T 7: 121,723,722 (GRCm39) S676T possibly damaging Het
Pdia6 T A 12: 17,331,040 (GRCm39) probably null Het
Pfkm A T 15: 98,024,266 (GRCm39) I425F possibly damaging Het
Pikfyve C T 1: 65,291,626 (GRCm39) R1282* probably null Het
Pole C T 5: 110,444,939 (GRCm39) L432F probably damaging Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prr5 G T 15: 84,650,508 (GRCm39) probably benign Het
Prxl2b T C 4: 154,981,058 (GRCm39) probably benign Het
Psat1 A G 19: 15,883,487 (GRCm39) Y343H probably damaging Het
Ptprj C T 2: 90,309,312 (GRCm39) R51K probably benign Het
Qars1 A G 9: 108,386,118 (GRCm39) D103G probably benign Het
Rims2 A T 15: 39,322,989 (GRCm39) I768F possibly damaging Het
Robo4 T A 9: 37,315,481 (GRCm39) V275E probably damaging Het
Ryr2 A G 13: 11,650,468 (GRCm39) probably benign Het
Sez6l T C 5: 112,623,269 (GRCm39) H94R probably benign Het
Slco1c1 T A 6: 141,490,553 (GRCm39) N211K possibly damaging Het
Strbp T C 2: 37,476,515 (GRCm39) probably benign Het
Tceanc2 T A 4: 107,004,878 (GRCm39) H90L probably damaging Het
Tdrkh A T 3: 94,331,844 (GRCm39) T90S possibly damaging Het
Tiam2 A G 17: 3,559,823 (GRCm39) D1288G probably damaging Het
Tln1 T C 4: 43,532,861 (GRCm39) D2447G possibly damaging Het
Tmem63c G A 12: 87,112,323 (GRCm39) V141M probably benign Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Tprkb T A 6: 85,901,400 (GRCm39) C13S probably benign Het
Traf3ip3 T C 1: 192,877,385 (GRCm39) T184A probably damaging Het
Trpc6 T A 9: 8,649,302 (GRCm39) M504K probably benign Het
Ttn G T 2: 76,597,567 (GRCm39) S18036* probably null Het
Wdfy4 A T 14: 32,688,392 (GRCm39) C2914S probably damaging Het
Ylpm1 T A 12: 85,096,032 (GRCm39) probably benign Het
Zfp644 T C 5: 106,785,134 (GRCm39) H471R probably damaging Het
Zfp747l1 T C 7: 126,983,951 (GRCm39) T384A probably benign Het
Zfyve16 C T 13: 92,648,325 (GRCm39) E910K possibly 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
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
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
Posted On 2016-08-02