Incidental Mutation 'R5268:Kcnq5'
ID 399845
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 042860-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R5268 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 21468627-22032166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21575949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 252 (T252S)
Ref Sequence ENSEMBL: ENSMUSP00000134076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029667] [ENSMUST00000115300] [ENSMUST00000173058] [ENSMUST00000173404] [ENSMUST00000174183]
AlphaFold Q9JK45
Predicted Effect probably damaging
Transcript: ENSMUST00000029667
AA Change: T252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: T252S

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 probably damaging
Transcript: ENSMUST00000115300
AA Change: T252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: T252S

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 probably benign
Transcript: ENSMUST00000173058
AA Change: T252S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: T252S

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 probably damaging
Transcript: ENSMUST00000173404
AA Change: T252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: T252S

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 probably benign
Transcript: ENSMUST00000174183
SMART Domains Protein: ENSMUSP00000134389
Gene: ENSMUSG00000028033

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,444 (GRCm39) E299G probably damaging Het
Adamtsl4 C A 3: 95,587,473 (GRCm39) R701L probably damaging Het
Adgrf5 T C 17: 43,761,890 (GRCm39) V1195A probably damaging Het
Agpat5 A G 8: 18,931,878 (GRCm39) T333A possibly damaging Het
Aspm G T 1: 139,392,033 (GRCm39) G795C probably damaging Het
Car4 C A 11: 84,856,626 (GRCm39) Q305K probably benign Het
Catsperg1 T C 7: 28,894,672 (GRCm39) N612S probably benign Het
Cdc5l G A 17: 45,726,511 (GRCm39) R354W probably damaging Het
Cdh9 G A 15: 16,851,099 (GRCm39) V623I probably benign Het
Cfap65 A G 1: 74,964,061 (GRCm39) V629A probably benign Het
Chd1 G A 17: 15,956,005 (GRCm39) V535I probably damaging Het
Col12a1 A G 9: 79,585,329 (GRCm39) V1316A probably damaging Het
Col6a3 A T 1: 90,712,965 (GRCm39) D1721E unknown Het
Cop1 T A 1: 159,154,734 (GRCm39) F647L probably damaging Het
Corin A C 5: 72,500,362 (GRCm39) S421A probably damaging Het
Crb2 T C 2: 37,680,833 (GRCm39) V587A probably damaging Het
Ctc1 T A 11: 68,920,636 (GRCm39) V646E possibly damaging Het
Cyp2a12 A T 7: 26,730,643 (GRCm39) M203L probably benign Het
Dcdc2c T A 12: 28,566,656 (GRCm39) K336M possibly damaging Het
Ddx39a G A 8: 84,448,950 (GRCm39) R275H probably benign Het
Dennd2b A G 7: 109,156,519 (GRCm39) L77P probably benign Het
Des A G 1: 75,339,572 (GRCm39) N310S possibly damaging Het
Dlk1 C A 12: 109,425,764 (GRCm39) S212R probably benign Het
Dnajc5b A G 3: 19,633,224 (GRCm39) E149G probably benign Het
Dpep1 A T 8: 123,920,828 (GRCm39) I3F probably benign Het
Eml6 T A 11: 29,753,108 (GRCm39) R934S probably benign Het
Ercc6l2 T C 13: 64,016,925 (GRCm39) L676P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem2 T A 3: 53,560,575 (GRCm39) I1311F probably damaging Het
Gldc T A 19: 30,123,125 (GRCm39) M257L probably damaging Het
Gm8674 T G 13: 50,055,390 (GRCm39) noncoding transcript Het
Gnai3 C T 3: 108,030,857 (GRCm39) probably null Het
Gtf3a A G 5: 146,891,965 (GRCm39) D300G probably damaging Het
Haus3 A T 5: 34,323,449 (GRCm39) V387D probably damaging Het
Hpf1 T A 8: 61,346,768 (GRCm39) F28I possibly damaging Het
Iars1 A G 13: 49,843,967 (GRCm39) D147G probably damaging Het
Ibtk A T 9: 85,625,743 (GRCm39) D2E probably benign Het
Ift140 T A 17: 25,239,601 (GRCm39) I86K possibly damaging Het
Igf2bp2 T A 16: 21,898,241 (GRCm39) I235F probably damaging Het
Ighv3-8 G T 12: 114,286,252 (GRCm39) A30E probably benign Het
Lrrc4b A T 7: 44,110,787 (GRCm39) N220Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mamdc4 T C 2: 25,454,702 (GRCm39) T1037A possibly damaging Het
Mbd5 A T 2: 49,162,106 (GRCm39) I863F possibly damaging Het
Muc4 T A 16: 32,570,484 (GRCm39) S515T possibly damaging Het
Mylk4 T A 13: 32,892,864 (GRCm39) probably null Het
Neu4 G A 1: 93,952,669 (GRCm39) R346H probably benign Het
Nxpe5 T A 5: 138,238,200 (GRCm39) Y253* probably null Het
Olfml2b A T 1: 170,477,330 (GRCm39) E155V probably damaging Het
Or14a258 A G 7: 86,034,867 (GRCm39) *334Q probably null Het
Or6a2 T A 7: 106,600,111 (GRCm39) N319Y probably benign Het
Or8a1b T A 9: 37,623,300 (GRCm39) I92F probably damaging Het
Pamr1 G A 2: 102,417,029 (GRCm39) A114T probably damaging Het
Pdzd2 T A 15: 12,592,263 (GRCm39) N127I probably damaging Het
Pglyrp4 C T 3: 90,634,271 (GRCm39) L5F probably damaging Het
Plce1 T A 19: 38,747,279 (GRCm39) S1667T possibly damaging Het
Qser1 A T 2: 104,617,776 (GRCm39) V1012E possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rcn3 A T 7: 44,736,203 (GRCm39) D168E probably damaging Het
Rdh1 T G 10: 127,595,832 (GRCm39) V9G possibly damaging Het
Rin2 A G 2: 145,686,680 (GRCm39) T70A probably benign Het
Rnf207 T C 4: 152,398,346 (GRCm39) D276G probably damaging Het
Rtel1 C T 2: 180,982,354 (GRCm39) S368L probably benign Het
Slc15a5 C A 6: 138,056,751 (GRCm39) C55F probably damaging Het
Slc36a4 T C 9: 15,638,212 (GRCm39) F213L possibly damaging Het
Snhg16 G T 11: 116,562,582 (GRCm39) M18I probably benign Het
Spata25 C T 2: 164,669,954 (GRCm39) G19D probably damaging Het
Tas2r102 A T 6: 132,739,360 (GRCm39) L89F probably damaging Het
Tbc1d1 A G 5: 64,481,910 (GRCm39) K704E probably damaging Het
Tert T G 13: 73,775,473 (GRCm39) S75A probably damaging Het
Tiparp T A 3: 65,454,986 (GRCm39) L195Q possibly damaging Het
Tmem205 A C 9: 21,837,380 (GRCm39) Y57* probably null Het
Tomm22 A G 15: 79,555,428 (GRCm39) R5G probably benign Het
Trav10 A T 14: 53,743,515 (GRCm39) S39C probably benign Het
Trav6-2 T A 14: 52,905,205 (GRCm39) N75K probably benign Het
Trio T C 15: 27,748,372 (GRCm39) S2427G probably benign Het
Ttc41 C A 10: 86,580,342 (GRCm39) H763N possibly damaging Het
Usp29 A T 7: 6,964,583 (GRCm39) N142I probably damaging Het
Vmn1r204 G T 13: 22,740,912 (GRCm39) W181L probably damaging Het
Vmn2r76 G A 7: 85,875,267 (GRCm39) T570M probably damaging Het
Wdr90 A G 17: 26,069,819 (GRCm39) L1173P probably damaging Het
Wnt9a T A 11: 59,219,396 (GRCm39) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm39) I1422L probably benign 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
R5373:Kcnq5 UTSW 1 22,031,795 (GRCm39) missense unknown
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'- ACGCATCAGGGCTTCAAATAGC -3'
(R):5'- TTTACTCAAAACGACGCACATG -3'

Sequencing Primer
(F):5'- TAGCTTGAAACACAATCTGGAGC -3'
(R):5'- GACGCACATGAACGCTTCAG -3'
Posted On 2016-07-06