Mutagenetix > Incidental Mutation

Incidental Mutation 'R2145:Kcnq5'

233681

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

040148-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R2145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21468627-22032166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21575573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 291 (D291V)

Ref Sequence

ENSEMBL: ENSMUSP00000110955 (fasta)

Gene Model

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

AlphaFold

Q9JK45

Predicted Effect

probably benign
Transcript: ENSMUST00000029667
AA Change: D291V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: D291V

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

noncoding transcript
Transcript: ENSMUST00000115299

Predicted Effect

probably damaging
Transcript: ENSMUST00000115300
AA Change: D291V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: D291V

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

possibly damaging
Transcript: ENSMUST00000173058
AA Change: D291V

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: D291V

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

possibly damaging
Transcript: ENSMUST00000173404
AA Change: D291V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: D291V

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

Meta Mutation Damage Score

0.7556

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,953,701 (GRCm39)	N535S	probably benign	Het
Abcc6	A	T	7: 45,648,165 (GRCm39)	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,484,790 (GRCm39)	Q278K	probably benign	Het
Acap2	A	T	16: 30,924,342 (GRCm39)	D637E	probably benign	Het
AI661453	A	G	17: 47,777,023 (GRCm39)		probably benign	Het
Aoah	A	T	13: 21,024,266 (GRCm39)	E74V	probably damaging	Het
Aoc1l1	A	T	6: 48,953,629 (GRCm39)	D518V	probably damaging	Het
Appl1	A	G	14: 26,671,576 (GRCm39)	L292S	possibly damaging	Het
Astl	T	A	2: 127,189,109 (GRCm39)	V166E	probably damaging	Het
Bbs1	T	G	19: 4,953,735 (GRCm39)	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,094,907 (GRCm39)		probably benign	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,381,811 (GRCm39)	F178V	probably damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cfap68	T	C	9: 50,676,174 (GRCm39)	Y32C	probably damaging	Het
Clcn7	A	G	17: 25,363,425 (GRCm39)	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Des	C	A	1: 75,340,108 (GRCm39)		probably benign	Het
Dgcr8	A	T	16: 18,098,094 (GRCm39)	D432E	probably benign	Het
Dlgap5	G	A	14: 47,633,380 (GRCm39)	R549*	probably null	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dmxl2	T	C	9: 54,323,194 (GRCm39)	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,848,451 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,001,904 (GRCm39)	T208N	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,044,907 (GRCm39)		probably benign	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Fmod	T	C	1: 133,968,256 (GRCm39)	Y99H	probably benign	Het
Fn1	A	T	1: 71,645,163 (GRCm39)	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,407,739 (GRCm39)	S281T	probably damaging	Het
Glb1	A	G	9: 114,293,233 (GRCm39)	H536R	probably benign	Het
Glis2	T	A	16: 4,431,506 (GRCm39)	S344R	possibly damaging	Het
Gm4847	A	T	1: 166,462,472 (GRCm39)	S339R	probably benign	Het
Gpr155	A	G	2: 73,187,002 (GRCm39)	S44P	probably benign	Het
Gprin1	G	A	13: 54,886,445 (GRCm39)	P610S	probably damaging	Het
Gvin3	T	A	7: 106,202,215 (GRCm39)	H343L	possibly damaging	Het
H2-Ob	A	T	17: 34,461,554 (GRCm39)	M98L	probably benign	Het
H3c6	T	C	13: 23,746,530 (GRCm39)	T4A	probably benign	Het
Hmcn2	T	C	2: 31,223,943 (GRCm39)		probably benign	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Il13	T	C	11: 53,523,351 (GRCm39)	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Irgm2	T	C	11: 58,111,355 (GRCm39)	S361P	possibly damaging	Het
Itga11	C	T	9: 62,639,486 (GRCm39)		probably benign	Het
Kalrn	G	T	16: 33,829,632 (GRCm39)		probably benign	Het
Kcng1	C	A	2: 168,110,952 (GRCm39)	G71C	probably damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lhx6	C	T	2: 35,977,478 (GRCm39)	V325I	probably benign	Het
Lipc	A	G	9: 70,841,817 (GRCm39)	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,648,107 (GRCm39)	G458V	probably damaging	Het
Mga	T	C	2: 119,794,638 (GRCm39)	V2565A	possibly damaging	Het
Mpzl2	C	G	9: 44,955,471 (GRCm39)	D127E	probably benign	Het
Mrtfb	T	C	16: 13,230,450 (GRCm39)	I1045T	probably damaging	Het
Myh3	T	A	11: 66,981,882 (GRCm39)	C793S	probably benign	Het
Nomo1	T	C	7: 45,715,928 (GRCm39)	L765P	probably damaging	Het
Nup210	A	G	6: 91,005,858 (GRCm39)	I1335T	possibly damaging	Het
Or52b3	T	C	7: 102,204,267 (GRCm39)		probably null	Het
Oxr1	T	A	15: 41,683,340 (GRCm39)	S254R	probably damaging	Het
Pan3	A	G	5: 147,466,908 (GRCm39)	I592V	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pex2	T	C	3: 5,626,650 (GRCm39)	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Phactr4	T	C	4: 132,098,095 (GRCm39)	E391G	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,376,273 (GRCm39)		probably null	Het
Pnlip	A	G	19: 58,664,876 (GRCm39)	S235G	probably benign	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptprc	T	C	1: 138,001,419 (GRCm39)	Y780C	probably damaging	Het
Pxn	T	A	5: 115,690,815 (GRCm39)		probably benign	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,757,827 (GRCm39)	K48N	probably damaging	Het
Rfwd3	T	C	8: 112,009,245 (GRCm39)	I444V	probably benign	Het
Rictor	C	T	15: 6,794,588 (GRCm39)	R293C	probably damaging	Het
Rif1	T	A	2: 52,001,412 (GRCm39)	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,306,019 (GRCm39)	V609A	probably benign	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Serac1	A	T	17: 6,101,060 (GRCm39)	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 158,607,492 (GRCm39)	T200K	probably benign	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Socs7	T	C	11: 97,263,950 (GRCm39)	F281L	probably benign	Het
Spta1	C	T	1: 174,040,180 (GRCm39)	L1214F	probably benign	Het
Ssu72	A	G	4: 155,789,900 (GRCm39)	E21G	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,680,595 (GRCm39)	V270L	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Tspyl2	A	T	X: 151,121,890 (GRCm39)	D572E	probably benign	Het
Unc45b	G	A	11: 82,808,580 (GRCm39)	R222H	probably benign	Het
Uxs1	T	C	1: 43,866,783 (GRCm39)	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726 (GRCm39)		probably benign	Het
Vmn1r202	C	T	13: 22,685,953 (GRCm39)	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,755,972 (GRCm39)	F15I	probably benign	Het
Wdr64	A	G	1: 175,594,661 (GRCm39)	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,419,373 (GRCm39)		noncoding transcript	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	probably damaging	Het
Zfp934	T	C	13: 62,665,648 (GRCm39)	D331G	probably damaging	Het
Zscan29	T	C	2: 121,000,587 (GRCm39)	R7G	probably damaging	Het

Other mutations in Kcnq5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGCACAGAATCTCCTCAGATC -3'
(R):5'- TATTTGAAGCCCTGATGCGTAATG -3'

Sequencing Primer
(F):5'- CACGGAGACCATTCATTG -3'
(R):5'- GCGTAATGCATTACTTTAAAGCC -3'

Posted On

2014-10-01