Incidental Mutation 'R5373:Kcnq5'
ID 475502
Institutional Source Beutler Lab
Gene Symbol Kcnq5
Ensembl Gene ENSMUSG00000028033
Gene Name potassium voltage-gated channel, subfamily Q, member 5
Synonyms 9230107O05Rik, D1Mgi1
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R5373 (G1)
Quality Score 34.1
Status Validated
Chromosome 1
Chromosomal Location 21468627-22032166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22031795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 4 (H4L)
Ref Sequence ENSEMBL: ENSMUSP00000134389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029667] [ENSMUST00000115300] [ENSMUST00000173058] [ENSMUST00000173404] [ENSMUST00000174183]
AlphaFold Q9JK45
Predicted Effect unknown
Transcript: ENSMUST00000029667
AA Change: H4L
SMART Domains Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: H4L

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 52 82 N/A INTRINSIC
transmembrane domain 128 150 N/A INTRINSIC
Pfam:Ion_trans 163 347 1.7e-26 PFAM
Pfam:Ion_trans_2 272 352 5.3e-15 PFAM
Pfam:KCNQ_channel 446 648 3.6e-95 PFAM
low complexity region 848 858 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115299
Predicted Effect unknown
Transcript: ENSMUST00000115300
AA Change: H4L
SMART Domains Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: H4L

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 52 82 N/A INTRINSIC
Pfam:Ion_trans 126 359 4.1e-28 PFAM
Pfam:Ion_trans_2 272 352 3.3e-16 PFAM
Pfam:KCNQ_channel 467 661 1.8e-98 PFAM
low complexity region 867 877 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173058
AA Change: H4L
SMART Domains Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: H4L

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 52 82 N/A INTRINSIC
transmembrane domain 128 150 N/A INTRINSIC
Pfam:Ion_trans 163 347 2e-26 PFAM
Pfam:Ion_trans_2 272 352 3.1e-15 PFAM
Pfam:KCNQ_channel 405 538 8e-64 PFAM
low complexity region 738 748 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173404
AA Change: H4L
SMART Domains Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: H4L

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 52 82 N/A INTRINSIC
transmembrane domain 128 150 N/A INTRINSIC
Pfam:Ion_trans 163 347 2.4e-26 PFAM
Pfam:Ion_trans_2 272 352 3.6e-15 PFAM
Pfam:KCNQ_channel 437 639 2e-95 PFAM
low complexity region 839 849 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000174183
AA Change: H4L
SMART Domains Protein: ENSMUSP00000134389
Gene: ENSMUSG00000028033
AA Change: H4L

DomainStartEndE-ValueType
low complexity region 6 36 N/A INTRINSIC
low complexity region 52 82 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181002
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a dominant negative knock-in mutation in this gene exhibit partial prenatal lethality and abnormal afterhyperpolarization in the in the CA3 area of hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,472,824 (GRCm39) I317T probably damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Kcnq5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Kcnq5 APN 1 21,575,987 (GRCm39) missense probably damaging 1.00
IGL01603:Kcnq5 APN 1 21,575,564 (GRCm39) missense possibly damaging 0.94
IGL02326:Kcnq5 APN 1 21,472,816 (GRCm39) missense probably benign 0.17
IGL02624:Kcnq5 APN 1 21,472,654 (GRCm39) missense probably benign 0.27
IGL03151:Kcnq5 APN 1 21,605,293 (GRCm39) missense probably damaging 1.00
IGL03367:Kcnq5 APN 1 21,473,289 (GRCm39) missense probably damaging 1.00
PIT1430001:Kcnq5 UTSW 1 21,605,405 (GRCm39) missense probably damaging 1.00
R0705:Kcnq5 UTSW 1 21,605,401 (GRCm39) missense probably damaging 1.00
R0798:Kcnq5 UTSW 1 22,031,399 (GRCm39) splice site probably null
R1263:Kcnq5 UTSW 1 21,549,602 (GRCm39) missense probably damaging 1.00
R1445:Kcnq5 UTSW 1 21,475,248 (GRCm39) missense probably benign 0.01
R1465:Kcnq5 UTSW 1 21,539,692 (GRCm39) critical splice donor site probably null
R1465:Kcnq5 UTSW 1 21,539,692 (GRCm39) critical splice donor site probably null
R1497:Kcnq5 UTSW 1 21,472,610 (GRCm39) missense possibly damaging 0.82
R1515:Kcnq5 UTSW 1 21,472,905 (GRCm39) missense probably benign 0.01
R1610:Kcnq5 UTSW 1 21,527,685 (GRCm39) missense probably damaging 1.00
R1835:Kcnq5 UTSW 1 21,536,611 (GRCm39) missense probably benign 0.04
R1999:Kcnq5 UTSW 1 21,472,428 (GRCm39) missense probably null 0.18
R2060:Kcnq5 UTSW 1 21,531,821 (GRCm39) missense probably benign 0.06
R2145:Kcnq5 UTSW 1 21,575,573 (GRCm39) missense probably damaging 0.96
R2314:Kcnq5 UTSW 1 21,549,595 (GRCm39) splice site probably null
R2511:Kcnq5 UTSW 1 21,576,006 (GRCm39) nonsense probably null
R2697:Kcnq5 UTSW 1 21,549,656 (GRCm39) missense probably damaging 1.00
R2886:Kcnq5 UTSW 1 21,539,771 (GRCm39) nonsense probably null
R2889:Kcnq5 UTSW 1 21,472,526 (GRCm39) missense probably damaging 0.98
R4176:Kcnq5 UTSW 1 21,605,392 (GRCm39) missense probably damaging 1.00
R4609:Kcnq5 UTSW 1 21,475,292 (GRCm39) splice site probably null
R4720:Kcnq5 UTSW 1 21,473,274 (GRCm39) missense probably damaging 0.96
R4904:Kcnq5 UTSW 1 21,494,324 (GRCm39) missense probably damaging 0.98
R5184:Kcnq5 UTSW 1 21,472,711 (GRCm39) missense probably damaging 1.00
R5268:Kcnq5 UTSW 1 21,575,949 (GRCm39) missense probably damaging 1.00
R5397:Kcnq5 UTSW 1 21,476,080 (GRCm39) missense probably damaging 1.00
R5473:Kcnq5 UTSW 1 21,527,626 (GRCm39) critical splice donor site probably null
R5490:Kcnq5 UTSW 1 21,549,692 (GRCm39) missense probably damaging 1.00
R5946:Kcnq5 UTSW 1 21,575,931 (GRCm39) missense probably damaging 1.00
R6941:Kcnq5 UTSW 1 21,476,068 (GRCm39) missense probably damaging 1.00
R6962:Kcnq5 UTSW 1 21,576,017 (GRCm39) missense probably damaging 1.00
R7201:Kcnq5 UTSW 1 21,473,099 (GRCm39) missense possibly damaging 0.93
R7238:Kcnq5 UTSW 1 21,472,526 (GRCm39) missense probably benign 0.39
R7375:Kcnq5 UTSW 1 21,539,710 (GRCm39) missense possibly damaging 0.82
R7584:Kcnq5 UTSW 1 21,472,545 (GRCm39) missense probably benign
R7780:Kcnq5 UTSW 1 22,031,555 (GRCm39) missense probably benign 0.43
R8043:Kcnq5 UTSW 1 21,549,644 (GRCm39) missense probably damaging 1.00
R8103:Kcnq5 UTSW 1 21,549,620 (GRCm39) missense possibly damaging 0.89
R8267:Kcnq5 UTSW 1 21,575,609 (GRCm39) missense probably damaging 1.00
R8363:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8364:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8370:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8371:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8372:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8374:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8414:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8528:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8542:Kcnq5 UTSW 1 21,549,648 (GRCm39) missense probably damaging 1.00
R8669:Kcnq5 UTSW 1 21,476,050 (GRCm39) missense probably damaging 1.00
R8723:Kcnq5 UTSW 1 21,575,591 (GRCm39) missense probably damaging 1.00
R9000:Kcnq5 UTSW 1 21,557,483 (GRCm39) missense probably damaging 1.00
R9020:Kcnq5 UTSW 1 21,539,463 (GRCm39) intron probably benign
R9152:Kcnq5 UTSW 1 21,539,692 (GRCm39) critical splice donor site probably null
R9426:Kcnq5 UTSW 1 21,473,118 (GRCm39) missense probably benign
Z1088:Kcnq5 UTSW 1 21,527,753 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCAGCACGTTGTACAGATAG -3'
(R):5'- TTTGGAATTGGAAGCGGCAG -3'

Sequencing Primer
(F):5'- AGATAGTTCTGCACCCGCC -3'
(R):5'- GGCAGAAATCCGGACCTC -3'
Posted On 2017-05-04