Incidental Mutation 'IGL00864:Kcnq5'
ID 12692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnq5
Ensembl Gene ENSMUSG00000028033
Gene Name potassium voltage-gated channel, subfamily Q, member 5
Synonyms 9230107O05Rik, D1Mgi1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # IGL00864
Quality Score
Status
Chromosome 1
Chromosomal Location 21468627-22032166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21575987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 239 (Q239L)
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: Q239L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: Q239L

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: Q239L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: Q239L

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 possibly damaging
Transcript: ENSMUST00000173058
AA Change: Q239L

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: Q239L

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: Q239L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: Q239L

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Ap2b1 A C 11: 83,223,984 (GRCm39) D195A probably damaging Het
Asxl3 T A 18: 22,655,503 (GRCm39) I1171K probably benign Het
Atm T C 9: 53,445,233 (GRCm39) S2G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ephx1 A G 1: 180,818,016 (GRCm39) S356P probably damaging Het
H1f8 A G 6: 115,925,587 (GRCm39) K128R probably damaging Het
Il12rb2 A G 6: 67,313,738 (GRCm39) I6T probably benign Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Lmbrd2 T C 15: 9,175,297 (GRCm39) S403P probably damaging Het
Ola1 A T 2: 72,987,241 (GRCm39) D130E probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Opcml A C 9: 28,812,887 (GRCm39) E193A probably damaging Het
Rab44 T C 17: 29,358,711 (GRCm39) S300P probably benign Het
Sergef C A 7: 46,165,087 (GRCm39) probably null Het
Slc6a2 T C 8: 93,722,622 (GRCm39) F540L probably benign Het
Spag6l A G 16: 16,598,597 (GRCm39) V298A probably benign Het
Svep1 G T 4: 58,068,533 (GRCm39) Y3084* probably null Het
Tbc1d4 T A 14: 101,682,002 (GRCm39) D1235V probably benign Het
Tlr9 T C 9: 106,102,206 (GRCm39) L499P probably damaging Het
Ttn G A 2: 76,544,178 (GRCm39) S24609F probably damaging Het
Other mutations in Kcnq5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06