Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4520001:Kcnk9'

555199

Institutional Source

Beutler Lab

Gene Symbol

Kcnk9

Ensembl Gene

ENSMUSG00000036760

Gene Name

potassium channel, subfamily K, member 9

Synonyms

Task3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

PIT4520001 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

72372938-72418189 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72384332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 282 (H282L)

Ref Sequence

ENSEMBL: ENSMUSP00000038729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044624]

AlphaFold

Q3LS21

Predicted Effect

probably benign
Transcript: ENSMUST00000044624
AA Change: H282L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: H282L

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
Pfam:Ion_trans_2	59	134	3.4e-20	PFAM
Pfam:Ion_trans_2	165	248	1.7e-18	PFAM
low complexity region	308	323	N/A	INTRINSIC
low complexity region	325	347	N/A	INTRINSIC

Coding Region Coverage

1x: 93.5%
3x: 91.1%
10x: 86.1%
20x: 75.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased pH sensitive action potential in serotonergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,117,133 (GRCm39)	N1000S	probably damaging	Het
Adgrb1	A	G	15: 74,413,508 (GRCm39)	D564G	probably damaging	Het
Ankmy2	A	G	12: 36,207,390 (GRCm39)	E12G	probably benign	Het
Arid1a	C	T	4: 133,409,227 (GRCm39)	S1375N	unknown	Het
Atp1a2	G	A	1: 172,106,941 (GRCm39)	A793V	probably benign	Het
Atp8b1	T	C	18: 64,701,251 (GRCm39)	Y369C	probably benign	Het
Catsperg2	A	G	7: 29,409,586 (GRCm39)	Y536H	possibly damaging	Het
Ccdc178	A	G	18: 22,200,470 (GRCm39)	Y445H	probably damaging	Het
Cep170	G	T	1: 176,607,765 (GRCm39)	N230K	unknown	Het
Cftr	A	G	6: 18,277,842 (GRCm39)	I977V	probably benign	Het
Chek2	A	G	5: 111,011,195 (GRCm39)	Y331C	probably damaging	Het
Chst13	A	T	6: 90,286,167 (GRCm39)	I265K	probably benign	Het
Coil	T	C	11: 88,872,437 (GRCm39)	M266T	probably benign	Het
Col16a1	T	A	4: 129,945,456 (GRCm39)	C28S	unknown	Het
Col3a1	T	C	1: 45,374,943 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,956,023 (GRCm39)	V3395M	probably benign	Het
Cyp51	A	G	5: 4,151,200 (GRCm39)	V143A	probably damaging	Het
Eif2ak1	C	T	5: 143,836,027 (GRCm39)	Q573*	probably null	Het
Eif2ak4	T	A	2: 118,292,808 (GRCm39)	I1344N	probably damaging	Het
Fhip1a	G	A	3: 85,579,779 (GRCm39)	Q809*	probably null	Het
Gen1	A	G	12: 11,291,509 (GRCm39)	V825A	probably benign	Het
Gm28042	A	T	2: 119,870,148 (GRCm39)	K696*	probably null	Het
Gm4952	A	G	19: 12,602,048 (GRCm39)	Y152C	probably benign	Het
Hdac3	G	A	18: 38,074,817 (GRCm39)	T308I	probably damaging	Het
Hpx	T	C	7: 105,241,341 (GRCm39)	T357A	probably benign	Het
Hscb	A	T	5: 110,983,851 (GRCm39)	Y139N	probably damaging	Het
Kdm2b	G	A	5: 123,079,110 (GRCm39)	T287M	probably damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kmt2c	A	C	5: 25,520,664 (GRCm39)	N1815K	probably benign	Het
Ktn1	C	T	14: 47,923,774 (GRCm39)	T511M	probably damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Lrrc43	T	C	5: 123,630,530 (GRCm39)	V131A	possibly damaging	Het
Man1b1	T	A	2: 25,233,282 (GRCm39)	H218Q	probably damaging	Het
Mapk8ip2	T	A	15: 89,344,900 (GRCm39)	C766S	probably damaging	Het
Mfn1	A	G	3: 32,615,695 (GRCm39)	N353D	probably benign	Het
Mtcl1	A	T	17: 66,692,907 (GRCm39)	L474Q	possibly damaging	Het
Mtr	T	A	13: 12,212,871 (GRCm39)	R915*	probably null	Het
Myh6	C	A	14: 55,187,581 (GRCm39)	V1263L	probably benign	Het
Nt5m	C	A	11: 59,765,415 (GRCm39)	L148M	probably benign	Het
Or4a67	A	G	2: 88,597,921 (GRCm39)	V246A	possibly damaging	Het
Or51t4	A	T	7: 102,597,921 (GRCm39)	D83V	probably damaging	Het
Or8k21	T	C	2: 86,145,142 (GRCm39)	I163V	possibly damaging	Het
Pbrm1	T	A	14: 30,789,818 (GRCm39)	F811I	probably damaging	Het
Pcnt	A	G	10: 76,256,069 (GRCm39)	S724P	probably damaging	Het
Pfdn5	C	A	15: 102,237,158 (GRCm39)	D98E	probably benign	Het
Ptprs	G	A	17: 56,721,980 (GRCm39)	P1715S	probably damaging	Het
Rtkn2	T	A	10: 67,823,291 (GRCm39)	L65Q	probably damaging	Het
Scn2a	G	A	2: 65,518,763 (GRCm39)	R379H	probably damaging	Het
Scn5a	G	T	9: 119,363,636 (GRCm39)	D501E	possibly damaging	Het
Spn	C	A	7: 126,735,611 (GRCm39)	G299W	probably damaging	Het
St6galnac1	T	C	11: 116,660,175 (GRCm39)	N46S	probably benign	Het
Stx19	A	G	16: 62,642,871 (GRCm39)	D229G	probably benign	Het
Tmc6	A	T	11: 117,663,556 (GRCm39)	M552K	possibly damaging	Het
Tnpo3	G	C	6: 29,555,221 (GRCm39)	D787E	possibly damaging	Het
Tyw5	T	C	1: 57,427,674 (GRCm39)	Y310C	probably damaging	Het
Vmn2r15	A	G	5: 109,434,871 (GRCm39)	F611S	probably damaging	Het
Vmn2r49	C	T	7: 9,722,988 (GRCm39)	M95I	probably benign	Het
Wfdc8	A	G	2: 164,445,223 (GRCm39)	S131P	probably benign	Het
Zfp407	A	T	18: 84,450,545 (GRCm39)	M1597K	probably damaging	Het

Other mutations in Kcnk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Kcnk9	APN	15	72,417,924 (GRCm39)	missense	probably benign	0.25
IGL02569:Kcnk9	APN	15	72,384,426 (GRCm39)	missense	probably benign	0.00
R0412:Kcnk9	UTSW	15	72,384,905 (GRCm39)	splice site	probably benign
R1507:Kcnk9	UTSW	15	72,384,083 (GRCm39)	missense	possibly damaging	0.59
R1780:Kcnk9	UTSW	15	72,384,250 (GRCm39)	missense	unknown
R1800:Kcnk9	UTSW	15	72,417,948 (GRCm39)	missense	probably benign	0.04
R2989:Kcnk9	UTSW	15	72,384,207 (GRCm39)	missense	unknown
R4089:Kcnk9	UTSW	15	72,418,112 (GRCm39)	missense	probably benign	0.40
R4710:Kcnk9	UTSW	15	72,384,824 (GRCm39)	missense	probably damaging	1.00
R6375:Kcnk9	UTSW	15	72,418,092 (GRCm39)	missense	probably benign	0.35
R8838:Kcnk9	UTSW	15	72,418,019 (GRCm39)	missense	possibly damaging	0.91
R9274:Kcnk9	UTSW	15	72,384,224 (GRCm39)	missense	unknown
Z1088:Kcnk9	UTSW	15	72,417,864 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTCAACCCTGCAGGAAACG -3'
(R):5'- CATGTATATCCTGGTGGGCCTG -3'

Sequencing Primer
(F):5'- ACTCCTGATAGTGGCACCAG -3'
(R):5'- TGGGCCTGACCGTCATC -3'

Posted On

2019-06-07