Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Kcnk5'

697337

Institutional Source

Beutler Lab

Gene Symbol

Kcnk5

Ensembl Gene

ENSMUSG00000023243

Gene Name

potassium channel, subfamily K, member 5

Synonyms

TASK-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20190125-20231850 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 20195135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 118 (Y118*)

Ref Sequence

ENSEMBL: ENSMUSP00000024011 (fasta)

Gene Model

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

AlphaFold

Q9JK62

Predicted Effect

probably null
Transcript: ENSMUST00000024011
AA Change: Y118*

SMART Domains

Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: Y118*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	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
R1693:Kcnk5	UTSW	14	20,191,964 (GRCm39)	missense	probably damaging	0.99
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
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'- TTCCTATCCCAGCTGAGACAC -3'
(R):5'- AGTGTGTTTCTCTCAAGCTAGC -3'

Sequencing Primer
(F):5'- GGGTCACCTGTCCCAACAC -3'
(R):5'- TCTCTCAAGCTAGCATGTGTG -3'

Posted On

2022-02-07