Mutagenetix > Incidental Mutations

Incidental Mutation 'R7238:Kcnq5'

562941

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R7238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21398403-21961942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21402302 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 907 (D907G)

Ref Sequence

ENSEMBL: ENSMUSP00000110955 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029667
AA Change: D888G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029667
Gene: ENSMUSG00000028033
AA Change: D888G

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: D907G

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110955
Gene: ENSMUSG00000028033
AA Change: D907G

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: D778G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134166
Gene: ENSMUSG00000028033
AA Change: D778G

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: D879G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134076
Gene: ENSMUSG00000028033
AA Change: D879G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (104/107)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,069,951	T1634S	probably damaging	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
4933402N22Rik	T	C	5: 11,920,745	I127T		Het
5830473C10Rik	A	T	5: 90,579,660	Y379F	probably damaging	Het
Adgrl1	T	A	8: 83,939,064	M1460K	probably damaging	Het
Adig	T	A	2: 158,505,853	L29Q	unknown	Het
Adnp	T	G	2: 168,183,967	K469N	probably damaging	Het
Akap3	A	G	6: 126,865,237	D273G	probably benign	Het
Ankrd34b	T	C	13: 92,438,631	Y124H	possibly damaging	Het
Ap2b1	T	G	11: 83,333,122	F221C	possibly damaging	Het
Atp2c2	A	G	8: 119,742,421	I358V	possibly damaging	Het
BC051665	G	A	13: 60,782,722	T272I	probably benign	Het
BC117090	C	T	16: 36,321,831	G61D	probably benign	Het
Cdan1	G	T	2: 120,730,302	A262E	probably benign	Het
Ces1d	C	T	8: 93,178,135	V326I	probably benign	Het
Chd3	T	C	11: 69,364,047	R156G	probably benign	Het
Clip1	C	T	5: 123,613,265	E818K		Het
Col6a4	C	T	9: 106,000,320	V2153M	probably damaging	Het
Crlf3	T	C	11: 80,056,525	N296D	possibly damaging	Het
D130052B06Rik	A	G	11: 33,623,594	I109V	probably benign	Het
Dcaf5	G	T	12: 80,338,709	T881K	probably benign	Het
Dennd4a	C	A	9: 64,861,956	T408K	probably damaging	Het
Dnah2	A	G	11: 69,459,146		probably null	Het
Eif2ak2	C	T	17: 78,866,331	V273I	probably benign	Het
Elac1	C	T	18: 73,739,288	G212D	probably damaging	Het
Ercc6l2	A	G	13: 63,865,984	D623G	probably damaging	Het
Exo1	T	C	1: 175,888,847	F177L	probably damaging	Het
Fat4	A	G	3: 38,890,413	T1152A	probably benign	Het
Fbxl12	G	T	9: 20,618,413		probably null	Het
Fbxo43	T	C	15: 36,151,825	Y582C	probably damaging	Het
Fsip2	T	A	2: 82,982,140	N2934K	possibly damaging	Het
Gm4951	A	G	18: 60,246,283	S297G	possibly damaging	Het
Gm8300	A	T	12: 87,517,236	K114*	probably null	Het
Gna12	A	G	5: 140,830,092	S69P	probably damaging	Het
Gpatch8	C	A	11: 102,478,528	G1395C	probably damaging	Het
Gpr137c	A	G	14: 45,278,691	Y294C	probably damaging	Het
Greb1	A	G	12: 16,674,672	S1834P	probably damaging	Het
Grin2b	T	C	6: 135,780,251	D404G	probably damaging	Het
Hectd2	A	T	19: 36,597,078	N236I	probably damaging	Het
Hhip	C	T	8: 79,987,012	V562I	probably benign	Het
Hipk2	G	T	6: 38,716,057	T867N	probably benign	Het
Hmgcl	T	C	4: 135,962,113	V294A	possibly damaging	Het
Hnrnpl	T	A	7: 28,813,975	F158I		Het
Hspa5	T	C	2: 34,772,371	V17A	unknown	Het
Hspg2	T	C	4: 137,508,393	V168A	probably damaging	Het
Idh1	A	G	1: 65,166,125	F227S	probably damaging	Het
Immp2l	T	C	12: 41,110,916	V71A	possibly damaging	Het
Iqce	G	A	5: 140,689,958	R193*	probably null	Het
Krt17	T	A	11: 100,257,787	T306S	probably benign	Het
Lhx3	T	C	2: 26,202,997	D149G	probably damaging	Het
Lrrc73	G	A	17: 46,254,562	R73H	probably damaging	Het
Mgat5b	T	C	11: 116,984,983	S678P	probably benign	Het
Mink1	T	C	11: 70,611,479		probably null	Het
Mroh5	T	G	15: 73,791,429		probably null	Het
Muc5ac	T	A	7: 141,809,517	H2188Q	unknown	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Musk	G	A	4: 58,344,312	G305D	probably benign	Het
Mx1	A	G	16: 97,448,296	I347T	unknown	Het
Mybbp1a	G	T	11: 72,443,512	V198F	probably damaging	Het
Mycbp2	A	G	14: 103,156,297	S2943P	probably damaging	Het
Myo18a	G	A	11: 77,842,233	R1363K	probably damaging	Het
Nav3	T	A	10: 109,853,324	D364V	possibly damaging	Het
Olfr127	T	C	17: 37,904,437	L297S	probably benign	Het
Olfr178	T	A	16: 58,889,889	E110D	probably damaging	Het
Olfr309	T	C	7: 86,306,591	H174R	probably damaging	Het
Olfr341	T	A	2: 36,479,714	N139Y	possibly damaging	Het
Olfr385	A	T	11: 73,589,735	M1K	probably null	Het
Pecr	T	C	1: 72,259,433	D276G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Ppp1cb	A	T	5: 32,491,032	T320S	probably benign	Het
Ppp1r9a	G	T	6: 5,159,716	K1084N	probably damaging	Het
Prdm2	A	G	4: 143,135,821	S300P	probably benign	Het
Prkg1	C	T	19: 30,624,690	V389I	probably damaging	Het
Psg25	C	T	7: 18,532,202		probably benign	Het
Ptpn6	A	G	6: 124,721,858	S498P	possibly damaging	Het
Pus3	A	G	9: 35,566,669	H399R	probably benign	Het
Pus7	T	C	5: 23,778,452	T6A	probably benign	Het
Rnf169	A	G	7: 99,925,747	V547A	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,921		probably benign	Het
Ryr1	C	T	7: 29,095,382	D1194N	probably benign	Het
Scn5a	T	C	9: 119,491,544	M1490V	possibly damaging	Het
Sec23b	A	G	2: 144,590,338	D756G	possibly damaging	Het
Selenoo	T	A	15: 89,089,224	M39K	probably benign	Het
Sept8	T	G	11: 53,536,692	V246G	possibly damaging	Het
Serpina3k	T	A	12: 104,343,108	N270K	probably damaging	Het
Setd5	G	A	6: 113,121,130	R710H	probably damaging	Het
Sirt4	A	T	5: 115,482,990	I41N	possibly damaging	Het
Slc26a9	T	A	1: 131,758,818	Y425*	probably null	Het
Slc4a9	A	G	18: 36,529,720	E176G	probably benign	Het
Spidr	A	T	16: 15,966,816	W463R	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tmcc1	G	A	6: 116,134,237	Q28*	probably null	Het
Tmem52b	A	G	6: 129,516,688	E88G	probably damaging	Het
Trpc7	A	T	13: 56,826,897	I402K	probably benign	Het
Tshz3	T	C	7: 36,770,097	Y504H	probably damaging	Het
Ttn	T	C	2: 76,712,205	E33479G	possibly damaging	Het
Ttn	G	A	2: 76,881,328	R8290C	unknown	Het
Urb1	T	C	16: 90,752,115	D2235G	possibly damaging	Het
Usp10	T	C	8: 119,941,544	F195L	probably benign	Het
Vmn1r31	A	T	6: 58,472,873	F2L		Het
Vmn2r109	C	T	17: 20,541,074	V674M	probably damaging	Het
Vmn2r12	G	A	5: 109,097,789	P26S	possibly damaging	Het
Vmn2r61	T	A	7: 42,267,205	M414K	possibly damaging	Het
Yipf3	T	C	17: 46,251,659	V330A	probably benign	Het
Zic4	A	T	9: 91,379,397	H235L	probably benign	Het
Zxdc	T	A	6: 90,369,660	W16R	unknown	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
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
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
Z1088:Kcnq5	UTSW	1	21457529	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCATGCAGTGATATGTATGGC -3'
(R):5'- CCATGGTGCCCAAGGATTTG -3'

Sequencing Primer
(F):5'- TGTATGGCTAAAAGAACAGCTATGC -3'
(R):5'- GGGCAAATCTCTGTCTGTACAAAAC -3'

Posted On

2019-06-26