Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Kcnq5'

168194

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

039562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21398403-21961942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21402681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 652 (S652P)

Ref Sequence

ENSEMBL: ENSMUSP00000134166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029667] [ENSMUST00000115300] [ENSMUST00000173058] [ENSMUST00000173404] [ENSMUST00000174183]

AlphaFold

Q9JK45

Predicted Effect

probably benign
Transcript: ENSMUST00000029667
AA Change: S762P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: S762P

Domain	Start	End	E-Value	Type
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: S781P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: S781P

Domain	Start	End	E-Value	Type
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: S652P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: S652P

Domain	Start	End	E-Value	Type
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: S753P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: S753P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in Kcnq5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Kcnq5	APN	1	21505763	missense	probably damaging	1.00
IGL01603:Kcnq5	APN	1	21505340	missense	possibly damaging	0.94
IGL02326:Kcnq5	APN	1	21402592	missense	probably benign	0.17
IGL02624:Kcnq5	APN	1	21402430	missense	probably benign	0.27
IGL03151:Kcnq5	APN	1	21535069	missense	probably damaging	1.00
IGL03367:Kcnq5	APN	1	21403065	missense	probably damaging	1.00
PIT1430001:Kcnq5	UTSW	1	21535181	missense	probably damaging	1.00
R0705:Kcnq5	UTSW	1	21535177	missense	probably damaging	1.00
R0798:Kcnq5	UTSW	1	21961175	splice site	probably null
R1263:Kcnq5	UTSW	1	21479378	missense	probably damaging	1.00
R1445:Kcnq5	UTSW	1	21405024	missense	probably benign	0.01
R1465:Kcnq5	UTSW	1	21469468	critical splice donor site	probably null
R1465:Kcnq5	UTSW	1	21469468	critical splice donor site	probably null
R1497:Kcnq5	UTSW	1	21402386	missense	possibly damaging	0.82
R1610:Kcnq5	UTSW	1	21457461	missense	probably damaging	1.00
R1835:Kcnq5	UTSW	1	21466387	missense	probably benign	0.04
R1999:Kcnq5	UTSW	1	21402204	missense	probably null	0.18
R2060:Kcnq5	UTSW	1	21461597	missense	probably benign	0.06
R2145:Kcnq5	UTSW	1	21505349	missense	probably damaging	0.96
R2314:Kcnq5	UTSW	1	21479371	splice site	probably null
R2511:Kcnq5	UTSW	1	21505782	nonsense	probably null
R2697:Kcnq5	UTSW	1	21479432	missense	probably damaging	1.00
R2886:Kcnq5	UTSW	1	21469547	nonsense	probably null
R2889:Kcnq5	UTSW	1	21402302	missense	probably damaging	0.98
R4176:Kcnq5	UTSW	1	21535168	missense	probably damaging	1.00
R4609:Kcnq5	UTSW	1	21405068	splice site	probably null
R4720:Kcnq5	UTSW	1	21403050	missense	probably damaging	0.96
R4904:Kcnq5	UTSW	1	21424100	missense	probably damaging	0.98
R5184:Kcnq5	UTSW	1	21402487	missense	probably damaging	1.00
R5268:Kcnq5	UTSW	1	21505725	missense	probably damaging	1.00
R5373:Kcnq5	UTSW	1	21961571	missense	unknown
R5397:Kcnq5	UTSW	1	21405856	missense	probably damaging	1.00
R5473:Kcnq5	UTSW	1	21457402	critical splice donor site	probably null
R5490:Kcnq5	UTSW	1	21479468	missense	probably damaging	1.00
R5946:Kcnq5	UTSW	1	21505707	missense	probably damaging	1.00
R6941:Kcnq5	UTSW	1	21405844	missense	probably damaging	1.00
R6962:Kcnq5	UTSW	1	21505793	missense	probably damaging	1.00
R7201:Kcnq5	UTSW	1	21402875	missense	possibly damaging	0.93
R7238:Kcnq5	UTSW	1	21402302	missense	probably benign	0.39
R7375:Kcnq5	UTSW	1	21469486	missense	possibly damaging	0.82
R7584:Kcnq5	UTSW	1	21402321	missense	probably benign
R7780:Kcnq5	UTSW	1	21961331	missense	probably benign	0.43
R8043:Kcnq5	UTSW	1	21479420	missense	probably damaging	1.00
R8103:Kcnq5	UTSW	1	21479396	missense	possibly damaging	0.89
R8267:Kcnq5	UTSW	1	21505385	missense	probably damaging	1.00
R8363:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8364:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8370:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8371:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8372:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8374:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8414:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8528:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8542:Kcnq5	UTSW	1	21479424	missense	probably damaging	1.00
R8669:Kcnq5	UTSW	1	21405826	missense	probably damaging	1.00
R8723:Kcnq5	UTSW	1	21505367	missense	probably damaging	1.00
R9000:Kcnq5	UTSW	1	21487259	missense	probably damaging	1.00
R9020:Kcnq5	UTSW	1	21469239	intron	probably benign
R9152:Kcnq5	UTSW	1	21469468	critical splice donor site	probably null
R9426:Kcnq5	UTSW	1	21402894	missense	probably benign
Z1088:Kcnq5	UTSW	1	21457529	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGACTCGCTGCCTGAAAAC -3'
(R):5'- ATGCGCTTAGCCCTACTATGCAC -3'

Sequencing Primer
(F):5'- CGCTGCCTGAAAACTGTAAGTTC -3'
(R):5'- TACTATGCACAGCCAAGCTAC -3'

Posted On

2014-04-13