Incidental Mutation 'R2272:Kcnq3'
ID 242593
Institutional Source Beutler Lab
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Name potassium voltage-gated channel, subfamily Q, member 3
Synonyms
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 65858236-66158491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65900529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 242 (D242V)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably damaging
Transcript: ENSMUST00000070256
AA Change: D242V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: D242V

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L 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
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
Predicted Primers PCR Primer
(F):5'- TCATTGTCAGTTTTGGCAGC -3'
(R):5'- GCTTAGTTAGAACAGCCTCTGC -3'

Sequencing Primer
(F):5'- AGTTTTGGCAGCATGACTACC -3'
(R):5'- TCAGCTCCTAGACAGTGCTAG -3'
Posted On 2014-10-16