Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Kcnq5'

205124

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

039862-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21468627-22032166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21536611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 416 (S416G)

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: S416G

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

SMART Domains

Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: S416G

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 benign
Transcript: ENSMUST00000115300
AA Change: S416G

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

SMART Domains

Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: S416G

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: S416G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: S416G

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

SMART Domains

Protein: ENSMUSP00000134076
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	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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,466,333 (GRCm39)	I763V	probably benign	Het
Aipl1	T	G	11: 71,921,325 (GRCm39)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,027,136 (GRCm39)	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,338,444 (GRCm39)	S365R	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Apc	T	A	18: 34,450,130 (GRCm39)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,822,098 (GRCm39)	V501I	probably benign	Het
Baz2b	T	C	2: 59,732,163 (GRCm39)	E1994G	probably benign	Het
Bltp2	G	T	11: 78,178,576 (GRCm39)	V1993F	probably damaging	Het
Cacna1a	T	C	8: 85,307,986 (GRCm39)		probably null	Het
Cacna1h	C	A	17: 25,611,050 (GRCm39)	V583L	probably benign	Het
Cd55	T	C	1: 130,375,346 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,937,494 (GRCm39)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,798,237 (GRCm39)	D1674V	probably benign	Het
Churc1	T	C	12: 76,820,071 (GRCm39)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,986,604 (GRCm39)	I280T	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cyp2b9	A	G	7: 25,900,208 (GRCm39)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm39)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,603,957 (GRCm39)	V888A	probably damaging	Het
Disp1	A	G	1: 182,870,564 (GRCm39)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,438,402 (GRCm39)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,394,164 (GRCm39)	T143A	possibly damaging	Het
Eps8	T	A	6: 137,499,277 (GRCm39)	K204*	probably null	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Ergic2	T	A	6: 148,091,079 (GRCm39)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,362,560 (GRCm39)	L274M	probably damaging	Het
Fat3	G	A	9: 15,909,384 (GRCm39)	T2206I	probably damaging	Het
Fat4	A	G	3: 39,037,720 (GRCm39)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,104,122 (GRCm39)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,025,723 (GRCm39)	M119V	probably benign	Het
Heatr5b	A	T	17: 79,080,992 (GRCm39)	L1420Q	probably damaging	Het
Herc2	G	T	7: 55,856,513 (GRCm39)	G3918*	probably null	Het
Ints9	A	G	14: 65,269,705 (GRCm39)	Y465C	probably damaging	Het
Ist1	A	G	8: 110,405,515 (GRCm39)	V175A	probably damaging	Het
Kcnj12	T	C	11: 60,960,383 (GRCm39)	L227P	possibly damaging	Het
Kdm3a	T	A	6: 71,590,940 (GRCm39)	T295S	probably benign	Het
Kif1c	T	A	11: 70,599,797 (GRCm39)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,933,438 (GRCm39)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,507,624 (GRCm39)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,595,556 (GRCm39)	M81V	probably benign	Het
Map4k5	C	A	12: 69,871,436 (GRCm39)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,790 (GRCm39)	R146C	probably benign	Het
Mettl24	T	A	10: 40,613,812 (GRCm39)		probably null	Het
Mical1	T	C	10: 41,359,531 (GRCm39)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,239,694 (GRCm39)	Y77*	probably null	Het
Mss51	A	T	14: 20,533,246 (GRCm39)	C408*	probably null	Het
Myh6	T	C	14: 55,194,858 (GRCm39)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,673 (GRCm39)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,359,726 (GRCm39)	Y503*	probably null	Het
Neil1	A	C	9: 57,053,888 (GRCm39)	F144C	probably damaging	Het
Nipbl	T	A	15: 8,373,001 (GRCm39)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nt5el	C	A	13: 105,218,702 (GRCm39)	A12E	unknown	Het
Ntng2	G	A	2: 29,087,069 (GRCm39)	Q384*	probably null	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or10j27	A	G	1: 172,958,382 (GRCm39)	V134A	probably benign	Het
Or13a22	A	G	7: 140,072,622 (GRCm39)	S24G	probably benign	Het
Or14j8	C	T	17: 38,263,276 (GRCm39)	G213E	possibly damaging	Het
Or1e22	A	C	11: 73,377,200 (GRCm39)	V150G	probably benign	Het
Or2j3	A	T	17: 38,616,203 (GRCm39)	S50T	probably benign	Het
Or2y1	A	T	11: 49,385,497 (GRCm39)	I46F	probably damaging	Het
Patj	A	G	4: 98,379,827 (GRCm39)	D151G	probably benign	Het
Plpbp	T	C	8: 27,539,259 (GRCm39)	V126A	probably damaging	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,486,650 (GRCm39)	S480A	probably damaging	Het
Pum1	T	C	4: 130,428,359 (GRCm39)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,014,925 (GRCm39)	G353A	probably damaging	Het
Reln	C	A	5: 22,184,000 (GRCm39)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,266,071 (GRCm39)	I9V	probably benign	Het
Ryr2	T	C	13: 11,784,764 (GRCm39)	H1063R	probably benign	Het
Samd14	C	G	11: 94,914,426 (GRCm39)	D361E	probably damaging	Het
Samd15	A	T	12: 87,248,617 (GRCm39)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,358,882 (GRCm39)	H105R	probably benign	Het
Sez6	T	C	11: 77,844,329 (GRCm39)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,789,350 (GRCm39)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,434,274 (GRCm39)	T991I	probably damaging	Het
Suco	A	T	1: 161,687,069 (GRCm39)	L97*	probably null	Het
Tab1	C	A	15: 80,032,497 (GRCm39)	R35S	probably benign	Het
Tet3	C	A	6: 83,381,145 (GRCm39)	S341I	possibly damaging	Het
Tlr1	A	T	5: 65,083,043 (GRCm39)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,862,963 (GRCm39)	D656A	probably damaging	Het
Tmtc4	T	A	14: 123,179,400 (GRCm39)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm39)	T404A	probably damaging	Het
Trpm1	A	G	7: 63,880,016 (GRCm39)	K790E	probably damaging	Het
Ulk4	C	A	9: 120,997,250 (GRCm39)	R774M	probably null	Het
Ush2a	C	T	1: 188,184,015 (GRCm39)	L1440F	probably benign	Het
Usp16	A	G	16: 87,277,795 (GRCm39)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm39)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,565,111 (GRCm39)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 41,916,076 (GRCm39)	R230*	probably null	Het
Vps13c	T	A	9: 67,900,295 (GRCm39)	F3671L	probably benign	Het
Washc5	T	C	15: 59,231,189 (GRCm39)	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,058,899 (GRCm39)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,625,805 (GRCm39)	K155I	probably benign	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
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'- TTGTTAAAAGGCACTGAGTGGG -3'
(R):5'- CTGTCTCAGATCTGCCACAAAG -3'

Sequencing Primer
(F):5'- TTAAAAGGCACTGAGTGGGTTAGG -3'
(R):5'- GATCTGCCACAAAGAACATATGCTTG -3'

Posted On

2014-06-23