Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Kcnk5'

170110

Institutional Source

Beutler Lab

Gene Symbol

Kcnk5

Ensembl Gene

ENSMUSG00000023243

Gene Name

potassium channel, subfamily K, member 5

Synonyms

TASK-2

MMRRC Submission

039592-MU

Accession Numbers

Essential gene?

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

Stock #

R1553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20190125-20231850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20192462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 233 (L233Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024011 (fasta)

Gene Model

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

AlphaFold

Q9JK62

Predicted Effect

probably damaging
Transcript: ENSMUST00000024011
AA Change: L233Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: L233Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Chil4	T	G	3: 106,111,006 (GRCm39)	N296T	probably benign	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Naalad2	T	C	9: 18,289,965 (GRCm39)	N221S	probably benign	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or12j3	T	A	7: 139,952,951 (GRCm39)	T191S	probably damaging	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Stub1	A	T	17: 26,051,097 (GRCm39)	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	probably benign	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
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
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'- GGATGCTGTACTTCCAGCCATCTG -3'
(R):5'- AGGAGCTGGTTATTCAACAGTTGCC -3'

Sequencing Primer
(F):5'- GTACTTCCAGCCATCTGTAGGG -3'
(R):5'- gctgtctacctgcctctg -3'

Posted On

2014-04-13