Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Kcnk5'

191957

Institutional Source

Beutler Lab

Gene Symbol

Kcnk5

Ensembl Gene

ENSMUSG00000023243

Gene Name

potassium channel, subfamily K, member 5

Synonyms

TASK-2

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20190125-20231850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20191964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 399 (R399L)

Ref Sequence

ENSEMBL: ENSMUSP00000024011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024011]

AlphaFold

Q9JK62

Predicted Effect

probably damaging
Transcript: ENSMUST00000024011
AA Change: R399L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: R399L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	60	138	7.1e-20	PFAM
Pfam:Ion_trans_2	161	251	2.1e-13	PFAM
low complexity region	257	264	N/A	INTRINSIC
low complexity region	317	330	N/A	INTRINSIC
low complexity region	469	483	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226090

Meta Mutation Damage Score

0.1206

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal and display varying amounts of prenatal lethality depending on genetic background. Otherwise, the mice are viable and fertile. Other targeted mice display aberrations in respiratory physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	Het

Other mutations in Kcnk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02555:Kcnk5	APN	14	20,192,053 (GRCm39)	missense	probably benign	0.27
IGL02672:Kcnk5	APN	14	20,196,580 (GRCm39)	missense	probably damaging	1.00
IGL02716:Kcnk5	APN	14	20,231,496 (GRCm39)	missense	probably damaging	1.00
IGL03253:Kcnk5	APN	14	20,192,405 (GRCm39)	missense	probably benign	0.21
R1553:Kcnk5	UTSW	14	20,192,462 (GRCm39)	missense	probably damaging	1.00
R1742:Kcnk5	UTSW	14	20,191,925 (GRCm39)	missense	probably benign	0.00
R2051:Kcnk5	UTSW	14	20,192,277 (GRCm39)	missense	probably damaging	1.00
R2415:Kcnk5	UTSW	14	20,191,880 (GRCm39)	missense	possibly damaging	0.61
R4230:Kcnk5	UTSW	14	20,194,852 (GRCm39)	missense	probably damaging	1.00
R6637:Kcnk5	UTSW	14	20,194,789 (GRCm39)	missense	probably null	1.00
R6877:Kcnk5	UTSW	14	20,194,784 (GRCm39)	missense	possibly damaging	0.69
R7552:Kcnk5	UTSW	14	20,192,349 (GRCm39)	missense	probably benign	0.31
R8948:Kcnk5	UTSW	14	20,192,046 (GRCm39)	missense	probably benign
R8950:Kcnk5	UTSW	14	20,192,046 (GRCm39)	missense	probably benign
R9175:Kcnk5	UTSW	14	20,192,117 (GRCm39)	missense	probably benign	0.14
R9185:Kcnk5	UTSW	14	20,195,135 (GRCm39)	nonsense	probably null
R9437:Kcnk5	UTSW	14	20,192,468 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnk5	UTSW	14	20,231,442 (GRCm39)	nonsense	probably null
Z1177:Kcnk5	UTSW	14	20,195,118 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCACCCGTGCTGCTCAAGG -3'
(R):5'- GCTGGAAGTACAGCATCCAAGGAC -3'

Sequencing Primer
(F):5'- GTTGTCCTCCACAGAAGACT -3'
(R):5'- TCTTCAGCTTCCTATCCAAAAAGG -3'

Posted On

2014-05-14