Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Kcnq5'

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: 0.289) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21398403-21961942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21457461 bp (GRCm38)

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

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 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

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

SMART Domains

Protein: ENSMUSP00000134166
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	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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,289	P258Q	probably damaging	Het
4930452B06Rik	G	T	14: 8,511,110	H435N	probably benign	Het
Acbd5	G	A	2: 23,090,551	C312Y	probably damaging	Het
Adgrl1	T	A	8: 83,932,373	M601K	probably benign	Het
Agbl4	G	A	4: 111,657,168	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Casz1	C	T	4: 148,929,087	A36V	possibly damaging	Het
Chpf	A	G	1: 75,476,648	V327A	probably damaging	Het
Cldn23	A	G	8: 35,825,930	Y135H	probably damaging	Het
Cobll1	C	T	2: 65,133,642	D211N	probably damaging	Het
Cramp1l	A	G	17: 24,983,951	V368A	probably benign	Het
Dnah6	T	C	6: 73,144,963	T1374A	probably benign	Het
Dpyd	A	G	3: 119,065,006	H623R	probably benign	Het
Dyrk2	T	C	10: 118,859,925	N476S	probably benign	Het
Endog	A	T	2: 30,173,887	I267F	probably damaging	Het
Ephb6	A	T	6: 41,614,373	K155*	probably null	Het
Far2	T	C	6: 148,157,458	V214A	possibly damaging	Het
Fat2	A	G	11: 55,278,924	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,531,288	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,996,179	T349S	probably benign	Het
Golgb1	A	G	16: 36,926,101	T2951A	probably benign	Het
Hc	G	T	2: 35,006,161	D1203E	probably benign	Het
Isg20	C	A	7: 78,914,509	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,114,103	A152E	probably damaging	Het
Kcnq3	T	C	15: 66,025,260	T264A	probably damaging	Het
Klra8	A	G	6: 130,119,018	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,214,875	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,194,136	T30A	possibly damaging	Het
Lig1	T	A	7: 13,285,340	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,612	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,452,993	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,407,448	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582	T137A	probably benign	Het
Nfatc2ip	A	T	7: 126,387,407	S359T	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1193	A	T	2: 88,678,574	K233*	probably null	Het
Olfr1229	T	C	2: 89,282,821	H104R	probably damaging	Het
Olfr514	T	A	7: 108,825,924	H25L	probably benign	Het
Olfr904	C	T	9: 38,464,631	L197F	probably damaging	Het
Plagl1	C	T	10: 13,128,962		probably benign	Het
Plxnb2	A	T	15: 89,158,493	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,902,196		probably null	Het
Rtn1	T	A	12: 72,219,279	Q174L	possibly damaging	Het
Selenoo	A	G	15: 89,099,916	E645G	probably benign	Het
Serpina1a	A	C	12: 103,853,837	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,668,225	Y345F	probably benign	Het
Smbd1	A	G	16: 32,806,765	V51A	possibly damaging	Het
Tchh	C	T	3: 93,444,839	R529W	unknown	Het
Tmem206	A	G	1: 191,345,065	D195G	probably benign	Het
Tonsl	A	T	15: 76,638,557	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,516,059	T344I	probably damaging	Het
Ubash3b	C	A	9: 41,043,500	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,243,733	V765A	probably damaging	Het
Zfp474	C	T	18: 52,638,365	T30I	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
R1515:Kcnq5	UTSW	1	21402681	missense	probably benign	0.01
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'- CTAATCGTACAGCAGCCTATCGAGC -3'
(R):5'- ATTCGCCCCTGAGGAATGAGAGATG -3'

Sequencing Primer
(F):5'- GCAGCCTATCGAGCTAAAAATTGTC -3'
(R):5'- TCGATGGAATAACCGTGGCTC -3'

Posted On

2014-04-24