Incidental Mutation 'IGL02624:Kcnq5'
ID 301003
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 # IGL02624
Quality Score
Status
Chromosome 1
Chromosomal Location 21468627-22032166 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21472654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 845 (L845F)
Ref Sequence ENSEMBL: ENSMUSP00000029667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029667] [ENSMUST00000115300] [ENSMUST00000173058] [ENSMUST00000173404] [ENSMUST00000174183]
AlphaFold Q9JK45
Predicted Effect probably benign
Transcript: ENSMUST00000029667
AA Change: L845F

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: L845F

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 probably benign
Transcript: ENSMUST00000115300
AA Change: L864F

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: L864F

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: L735F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: L735F

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 benign
Transcript: ENSMUST00000173404
AA Change: L836F

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: L836F

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,032,004 (GRCm39) V38A unknown Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Brk1 T G 6: 113,581,805 (GRCm39) I22M possibly damaging Het
Cd3g A G 9: 44,885,459 (GRCm39) probably null Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Ces2g T C 8: 105,691,380 (GRCm39) V172A probably damaging Het
Clcn2 G T 16: 20,522,098 (GRCm39) S830R probably damaging Het
Cyp26b1 T C 6: 84,561,321 (GRCm39) S114G probably benign Het
Dnali1 T C 4: 124,952,791 (GRCm39) Q244R probably benign Het
Entpd1 A T 19: 40,714,502 (GRCm39) K204* probably null Het
Gm5070 A G 3: 95,318,219 (GRCm39) noncoding transcript Het
Gpsm2 G T 3: 108,589,349 (GRCm39) D596E probably benign Het
Hectd1 C T 12: 51,809,233 (GRCm39) A1743T possibly damaging Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp1 A T 10: 127,408,291 (GRCm39) I1795N probably damaging Het
Lsp1 C T 7: 142,044,288 (GRCm39) probably benign Het
Mcm6 C T 1: 128,277,185 (GRCm39) A213T possibly damaging Het
Mylk G T 16: 34,750,266 (GRCm39) V1202L probably benign Het
Myo5b T C 18: 74,848,010 (GRCm39) Y1083H probably damaging Het
Ncoa5 T A 2: 164,854,981 (GRCm39) D47V probably damaging Het
Npat C T 9: 53,478,110 (GRCm39) T954I probably damaging Het
Or2b28 A G 13: 21,531,682 (GRCm39) T195A probably benign Het
Or5p1 A T 7: 107,916,130 (GRCm39) T10S probably benign Het
Pfkm T C 15: 98,024,276 (GRCm39) I428T probably benign Het
Rai1 T C 11: 60,079,569 (GRCm39) F1211S probably damaging Het
Reln T C 5: 22,308,355 (GRCm39) E338G probably benign Het
Tbx18 T C 9: 87,609,459 (GRCm39) Y192C probably damaging Het
Tex21 T A 12: 76,261,398 (GRCm39) D250V probably damaging Het
Tpo A G 12: 30,150,413 (GRCm39) V489A probably benign Het
Tspo T C 15: 83,455,616 (GRCm39) M1T probably null Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnk2 C T 13: 49,256,278 (GRCm39) G281D probably damaging Het
Zfhx2 T C 14: 55,304,085 (GRCm39) T1300A 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
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 2015-04-16