Incidental Mutation 'R5015:Kcnq3'
ID 385534
Institutional Source Beutler Lab
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Name potassium voltage-gated channel, subfamily Q, member 3
Synonyms
MMRRC Submission 042606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R5015 (G1)
Quality Score 221
Status Not validated
Chromosome 15
Chromosomal Location 65858236-66158491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65876612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 510 (E510D)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
AlphaFold Q8K3F6
Predicted Effect probably damaging
Transcript: ENSMUST00000070256
AA Change: E510D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: E510D

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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T 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
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
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'- TTCACAGGACCCGACTCAAG -3'
(R):5'- ACAGCAGCTATGACCTTCTC -3'

Sequencing Primer
(F):5'- AGGACCCGACTCAAGGTGAC -3'
(R):5'- ATGATGTCACAACTGGGGCC -3'
Posted On 2016-05-10