Incidental Mutation 'R1610:Kcnq5'
ID 176701
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 039647-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R1610 (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 G at 21527685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 463 (T463P)
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: T472P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: T472P

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 damaging
Transcript: ENSMUST00000115300
AA Change: T491P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: T491P

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
SMART Domains Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033

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: T463P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: T463P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192487
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I 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
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
Predicted Primers PCR Primer
(F):5'- CTAATCGTACAGCAGCCTATCGAGC -3'
(R):5'- ATTCGCCCCTGAGGAATGAGAGATG -3'

Sequencing Primer
(F):5'- GCAGCCTATCGAGCTAAAAATTGTC -3'
(R):5'- TCGATGGAATAACCGTGGCTC -3'
Posted On 2014-04-24