Mutagenetix > Incidental Mutation

Incidental Mutation 'R9420:Kcnk12'

712309

Institutional Source

Beutler Lab

Gene Symbol

Kcnk12

Ensembl Gene

ENSMUSG00000050138

Gene Name

potassium channel, subfamily K, member 12

Synonyms

mntk1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9420 (G1)

Quality Score

90.0077

Status

Not validated

Chromosome

Chromosomal Location

88053229-88105422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88104507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 126 (V126L)

Ref Sequence

ENSEMBL: ENSMUSP00000053595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055221]

AlphaFold

Q76M80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055221
AA Change: V126L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053595
Gene: ENSMUSG00000050138
AA Change: V126L

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
Pfam:Ion_trans_2	94	170	5e-16	PFAM
Pfam:Ion_trans_2	220	304	3.1e-18	PFAM
low complexity region	340	350	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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 product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,912,277 (GRCm39)	I56T	probably benign	Het
Adissp	T	C	2: 130,993,682 (GRCm39)		probably null	Het
Akr1c12	A	G	13: 4,325,796 (GRCm39)	L99S	probably damaging	Het
Azin1	C	A	15: 38,493,871 (GRCm39)	V251F	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
C2cd3	A	T	7: 100,065,262 (GRCm39)	M305L		Het
Casz1	A	G	4: 149,023,320 (GRCm39)	T742A	probably damaging	Het
Cbfa2t2	A	G	2: 154,352,426 (GRCm39)		probably null	Het
Clec2e	T	A	6: 129,071,420 (GRCm39)	Y139F	possibly damaging	Het
Crisp2	T	A	17: 41,094,724 (GRCm39)	N117I	possibly damaging	Het
Ddx52	A	T	11: 83,833,008 (GRCm39)	D2V	probably damaging	Het
Dmpk	T	A	7: 18,824,946 (GRCm39)	V442E	probably benign	Het
Dnah2	A	T	11: 69,368,942 (GRCm39)	M1654K	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,739,935 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,885,054 (GRCm39)	V411A	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fry	A	G	5: 150,356,994 (GRCm39)	E1847G	possibly damaging	Het
Gck	A	G	11: 5,899,553 (GRCm39)		probably null	Het
Gga2	T	C	7: 121,603,195 (GRCm39)	D167G	probably damaging	Het
Gprc6a	A	G	10: 51,491,506 (GRCm39)	S748P	probably damaging	Het
H2-M10.2	T	C	17: 36,595,643 (GRCm39)	R216G	probably benign	Het
H2-M2	T	A	17: 37,792,215 (GRCm39)	I312F	probably benign	Het
Havcr2	A	T	11: 46,347,350 (GRCm39)	Y109F	probably damaging	Het
Hoga1	T	C	19: 42,048,333 (GRCm39)	V67A		Het
Ift70b	T	A	2: 75,768,391 (GRCm39)	I121F	possibly damaging	Het
Klc1	A	G	12: 111,738,950 (GRCm39)	E66G	probably damaging	Het
Klhl2	A	T	8: 65,205,870 (GRCm39)	Y350*	probably null	Het
Letm1	T	C	5: 33,926,802 (GRCm39)	H165R	probably damaging	Het
Luc7l2	T	C	6: 38,547,489 (GRCm39)	C36R	probably damaging	Het
Mab21l1	A	G	3: 55,690,674 (GRCm39)	N87S	probably damaging	Het
Mdn1	A	G	4: 32,678,414 (GRCm39)	T681A	probably damaging	Het
Mrc1	C	T	2: 14,312,790 (GRCm39)	T904I	possibly damaging	Het
Mrpl38	A	G	11: 116,023,276 (GRCm39)	S326P	probably damaging	Het
Mtr	T	G	13: 12,268,764 (GRCm39)	K32N	probably benign	Het
Mybpc3	T	A	2: 90,965,478 (GRCm39)	C1128*	probably null	Het
Ncdn	T	C	4: 126,645,762 (GRCm39)	D49G	probably damaging	Het
Nfkbiz	G	A	16: 55,642,337 (GRCm39)	T27I	probably damaging	Het
Npnt	A	T	3: 132,653,866 (GRCm39)	Y38*	probably null	Het
Nrxn2	A	G	19: 6,581,931 (GRCm39)	E1622G	probably benign	Het
Nutm2	T	C	13: 50,626,964 (GRCm39)	I373T	probably damaging	Het
Or4c58	T	C	2: 89,674,715 (GRCm39)	I201V	probably benign	Het
Or51m1	T	C	7: 103,578,980 (GRCm39)	S317P	possibly damaging	Het
Osbp2	A	G	11: 3,662,170 (GRCm39)	S228P	probably damaging	Het
Pbx3	C	T	2: 34,103,348 (GRCm39)	R208Q	probably damaging	Het
Pcdhgb5	T	C	18: 37,864,838 (GRCm39)	V211A	probably benign	Het
Pi16	C	T	17: 29,544,899 (GRCm39)	T151M	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptpro	T	C	6: 137,420,933 (GRCm39)	I1068T	probably benign	Het
Rbl1	A	T	2: 157,035,154 (GRCm39)	Y309N	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Serpina3g	G	C	12: 104,206,518 (GRCm39)	E106D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Son	G	C	16: 91,454,508 (GRCm39)	R1085P	probably damaging	Het
Tasor	A	T	14: 27,163,927 (GRCm39)	I238F	probably damaging	Het
Tbx18	C	A	9: 87,612,675 (GRCm39)	A75S	probably benign	Het
Tmem232	C	A	17: 65,792,881 (GRCm39)	Q105H	probably damaging	Het
Ttc29	A	G	8: 79,060,390 (GRCm39)	I437V	probably benign	Het
Ttn	T	A	2: 76,621,887 (GRCm39)	I15552L	probably damaging	Het
Ttn	T	A	2: 76,750,313 (GRCm39)	T3579S	probably benign	Het
Vps11	A	G	9: 44,267,719 (GRCm39)	F298L	probably benign	Het
Wbp11	T	C	6: 136,791,259 (GRCm39)	T625A	unknown	Het
Xylb	T	A	9: 119,215,428 (GRCm39)	N460K	probably damaging	Het
Znrf4	C	A	17: 56,819,218 (GRCm39)	V30F	probably damaging	Het

Other mutations in Kcnk12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Kcnk12	APN	17	88,054,195 (GRCm39)	missense	probably damaging	0.99
IGL01611:Kcnk12	APN	17	88,104,495 (GRCm39)	missense	probably benign	0.08
kiskadee	UTSW	17	88,054,164 (GRCm39)	missense	probably damaging	1.00
R1295:Kcnk12	UTSW	17	88,053,801 (GRCm39)	missense	probably damaging	1.00
R1672:Kcnk12	UTSW	17	88,053,747 (GRCm39)	missense	probably benign	0.16
R1806:Kcnk12	UTSW	17	88,053,537 (GRCm39)	missense	probably benign	0.34
R1807:Kcnk12	UTSW	17	88,053,468 (GRCm39)	missense	probably benign	0.04
R1873:Kcnk12	UTSW	17	88,053,499 (GRCm39)	missense	probably damaging	1.00
R1972:Kcnk12	UTSW	17	88,104,560 (GRCm39)	missense	possibly damaging	0.50
R4116:Kcnk12	UTSW	17	88,053,584 (GRCm39)	frame shift	probably null
R5202:Kcnk12	UTSW	17	88,054,033 (GRCm39)	nonsense	probably null
R5888:Kcnk12	UTSW	17	88,054,077 (GRCm39)	missense	probably benign	0.00
R6017:Kcnk12	UTSW	17	88,054,164 (GRCm39)	missense	probably damaging	1.00
R7544:Kcnk12	UTSW	17	88,053,493 (GRCm39)	missense	possibly damaging	0.94
R8298:Kcnk12	UTSW	17	88,104,713 (GRCm39)	missense	probably damaging	1.00
R8796:Kcnk12	UTSW	17	88,054,020 (GRCm39)	missense	probably damaging	1.00
R9233:Kcnk12	UTSW	17	88,053,538 (GRCm39)	missense	probably benign	0.09
R9436:Kcnk12	UTSW	17	88,104,880 (GRCm39)	start codon destroyed	probably null
R9476:Kcnk12	UTSW	17	88,054,122 (GRCm39)	missense	probably benign	0.09
R9510:Kcnk12	UTSW	17	88,054,122 (GRCm39)	missense	probably benign	0.09
Z1177:Kcnk12	UTSW	17	88,053,471 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATGGTCCATTCGGGCAAAC -3'
(R):5'- TGTTCTCTGCGCTCGAAAGC -3'

Sequencing Primer
(F):5'- CTCGCTCCGAATGCAGGAAAG -3'
(R):5'- ACGCTGCGCAACTTCAG -3'

Posted On

2022-05-16