Incidental Mutation 'R1873:Kcnq3'
ID 210974
Institutional Source Beutler Lab
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Name potassium voltage-gated channel, subfamily Q, member 3
Synonyms
MMRRC Submission 039895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1873 (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 65874104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 548 (I548T)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably benign
Transcript: ENSMUST00000070256
AA Change: I548T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: I548T

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 0.6943 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Cfhr4 C T 1: 139,702,398 (GRCm39) E29K probably damaging Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kat6b T C 14: 21,567,057 (GRCm39) S39P probably damaging Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Masp2 A T 4: 148,698,952 (GRCm39) I678F probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Nsf T C 11: 103,749,843 (GRCm39) S547G probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TAAATGTGTCCTCCTGTTTGTGAAG -3'
(R):5'- AAGGCCAGCATTCTGCCATC -3'

Sequencing Primer
(F):5'- GAAGTTTCTCTGCTGCATTTTGC -3'
(R):5'- CCATCCAGGCCTTCTCTTTATG -3'
Posted On 2014-06-30