Incidental Mutation 'R1722:Kcnq4'
ID 191533
Institutional Source Beutler Lab
Gene Symbol Kcnq4
Ensembl Gene ENSMUSG00000028631
Gene Name potassium voltage-gated channel, subfamily Q, member 4
Synonyms
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.434) question?
Stock # R1722 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120559624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 525 (D525E)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
AlphaFold Q9JK97
Predicted Effect probably benign
Transcript: ENSMUST00000030376
AA Change: D525E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: D525E

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 36 77 N/A INTRINSIC
Pfam:Ion_trans 99 331 1.2e-28 PFAM
Pfam:Ion_trans_2 244 324 5.4e-16 PFAM
Pfam:KCNQ_channel 465 655 1.6e-93 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Elp3 A T 14: 65,788,846 (GRCm39) D393E probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Other mutations in Kcnq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00225:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00228:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00310:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00330:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00333:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00335:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00336:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL01143:Kcnq4 APN 4 120,555,820 (GRCm39) missense probably damaging 1.00
IGL01373:Kcnq4 APN 4 120,574,229 (GRCm39) missense probably damaging 1.00
IGL02095:Kcnq4 APN 4 120,557,224 (GRCm39) splice site probably benign
IGL02335:Kcnq4 APN 4 120,573,051 (GRCm39) missense probably damaging 1.00
IGL03188:Kcnq4 APN 4 120,561,623 (GRCm39) missense possibly damaging 0.81
R0045:Kcnq4 UTSW 4 120,555,152 (GRCm39) missense probably damaging 0.99
R0045:Kcnq4 UTSW 4 120,555,152 (GRCm39) missense probably damaging 0.99
R0423:Kcnq4 UTSW 4 120,574,705 (GRCm39) missense probably damaging 1.00
R0483:Kcnq4 UTSW 4 120,573,798 (GRCm39) missense probably damaging 1.00
R0837:Kcnq4 UTSW 4 120,604,058 (GRCm39) missense probably benign 0.00
R1826:Kcnq4 UTSW 4 120,561,701 (GRCm39) missense probably benign 0.00
R2059:Kcnq4 UTSW 4 120,555,199 (GRCm39) missense probably benign 0.00
R4327:Kcnq4 UTSW 4 120,568,561 (GRCm39) missense probably benign 0.00
R4690:Kcnq4 UTSW 4 120,574,208 (GRCm39) missense probably damaging 0.99
R4706:Kcnq4 UTSW 4 120,561,683 (GRCm39) missense probably benign
R4729:Kcnq4 UTSW 4 120,570,271 (GRCm39) missense possibly damaging 0.47
R4806:Kcnq4 UTSW 4 120,570,291 (GRCm39) missense probably damaging 1.00
R4859:Kcnq4 UTSW 4 120,573,810 (GRCm39) missense probably damaging 1.00
R4885:Kcnq4 UTSW 4 120,570,260 (GRCm39) missense probably benign 0.01
R5073:Kcnq4 UTSW 4 120,574,714 (GRCm39) missense probably damaging 1.00
R5517:Kcnq4 UTSW 4 120,573,006 (GRCm39) missense possibly damaging 0.66
R5590:Kcnq4 UTSW 4 120,573,082 (GRCm39) missense probably damaging 0.98
R5653:Kcnq4 UTSW 4 120,559,608 (GRCm39) missense probably benign 0.00
R5750:Kcnq4 UTSW 4 120,572,246 (GRCm39) missense probably damaging 1.00
R6141:Kcnq4 UTSW 4 120,573,066 (GRCm39) missense probably damaging 1.00
R6160:Kcnq4 UTSW 4 120,573,756 (GRCm39) missense probably damaging 1.00
R7087:Kcnq4 UTSW 4 120,561,596 (GRCm39) missense probably damaging 0.96
R7088:Kcnq4 UTSW 4 120,561,596 (GRCm39) missense probably damaging 0.96
R7143:Kcnq4 UTSW 4 120,568,436 (GRCm39) missense probably benign 0.05
R7225:Kcnq4 UTSW 4 120,604,111 (GRCm39) missense probably benign 0.03
R7479:Kcnq4 UTSW 4 120,573,022 (GRCm39) missense probably damaging 0.98
R7574:Kcnq4 UTSW 4 120,568,565 (GRCm39) missense probably benign
R7879:Kcnq4 UTSW 4 120,559,632 (GRCm39) missense probably benign 0.13
R7980:Kcnq4 UTSW 4 120,568,494 (GRCm39) missense probably benign 0.02
R9007:Kcnq4 UTSW 4 120,555,150 (GRCm39) missense probably benign 0.01
R9421:Kcnq4 UTSW 4 120,573,868 (GRCm39) missense possibly damaging 0.48
R9468:Kcnq4 UTSW 4 120,568,494 (GRCm39) missense probably benign 0.02
R9774:Kcnq4 UTSW 4 120,573,076 (GRCm39) missense probably damaging 0.99
X0020:Kcnq4 UTSW 4 120,572,524 (GRCm39) missense probably damaging 1.00
Z1176:Kcnq4 UTSW 4 120,555,694 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCCTGAATGGAGCAGACACTGTG -3'
(R):5'- TTCCCATGAGTCCCACTAATGGAGG -3'

Sequencing Primer
(F):5'- AGTGCTGGAAGCCATATGCTC -3'
(R):5'- CACTAATGGAGGTGGGGGC -3'
Posted On 2014-05-14