Mutagenetix > Incidental Mutation

Incidental Mutation 'R8161:Kcnj16'

633535

Institutional Source

Beutler Lab

Gene Symbol

Kcnj16

Ensembl Gene

ENSMUSG00000051497

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 16

Synonyms

6430410F18Rik, Kir5.1

MMRRC Submission

067587-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8161 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110858859-110918794 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 110915341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000102246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106635] [ENSMUST00000106636] [ENSMUST00000125692] [ENSMUST00000150902] [ENSMUST00000178798] [ENSMUST00000180023]

AlphaFold

Q9Z307

Predicted Effect

probably null
Transcript: ENSMUST00000106635
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	357	9.3e-132	PFAM
low complexity region	371	383	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106636
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	368	2e-145	PFAM
low complexity region	371	383	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000125692
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	103	3.4e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150902
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	66	1.5e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000178798
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	368	2e-145	PFAM
low complexity region	371	383	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180023
AA Change: M1K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:IRK	37	368	2e-145	PFAM
low complexity region	371	383	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron response to ammonium chloride withdrawal and carbon dioxide treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	C	9: 101,815,968 (GRCm39)	L51P	probably damaging	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ank2	T	C	3: 126,825,778 (GRCm39)	N371S		Het
Arhgef5	T	A	6: 43,260,885 (GRCm39)	C1437S	probably damaging	Het
Atp8b1	A	T	18: 64,690,058 (GRCm39)	L558Q	probably damaging	Het
Bsn	T	C	9: 108,016,729 (GRCm39)	K94R	probably benign	Het
Cacna2d1	T	A	5: 16,519,935 (GRCm39)	V435D	probably damaging	Het
Chd3	T	C	11: 69,241,711 (GRCm39)	N1474S	probably damaging	Het
Chd7	A	G	4: 8,855,038 (GRCm39)	D2089G	probably damaging	Het
Col11a2	T	A	17: 34,270,264 (GRCm39)	M492K	unknown	Het
Col16a1	A	T	4: 129,954,262 (GRCm39)	T502S	unknown	Het
Csl	A	T	10: 99,594,182 (GRCm39)	N294K	probably damaging	Het
Dnah5	T	A	15: 28,350,850 (GRCm39)	M2624K	possibly damaging	Het
Dync1li1	C	A	9: 114,535,251 (GRCm39)	H172N	probably damaging	Het
Eef1a1	C	T	9: 78,387,672 (GRCm39)	V59I	probably benign	Het
Ephb1	T	C	9: 102,072,012 (GRCm39)	K256E	probably damaging	Het
Erlin2	C	A	8: 27,518,970 (GRCm39)	T78N	probably damaging	Het
Fbxo10	A	G	4: 45,044,793 (GRCm39)	L614P	probably damaging	Het
Fer1l4	A	T	2: 155,866,555 (GRCm39)	D1555E	probably benign	Het
Gabrr2	A	G	4: 33,082,566 (GRCm39)	D230G	probably damaging	Het
Gen1	A	T	12: 11,291,465 (GRCm39)	S840T	probably benign	Het
Glyctk	G	A	9: 106,034,892 (GRCm39)	T58I	probably benign	Het
Gm12258	G	A	11: 58,750,138 (GRCm39)	A438T	unknown	Het
Gm14305	A	G	2: 176,413,298 (GRCm39)	T397A	probably benign	Het
Hnrnpu	G	T	1: 178,165,067 (GRCm39)	R24S	possibly damaging	Het
Iffo2	A	G	4: 139,302,265 (GRCm39)	N3D	possibly damaging	Het
Insr	C	T	8: 3,308,660 (GRCm39)	M125I	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kcns3	G	A	12: 11,169,764 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,579,562 (GRCm39)	V578A	probably benign	Het
Krt79	T	C	15: 101,839,137 (GRCm39)	K444R	probably damaging	Het
Mtg2	T	C	2: 179,727,368 (GRCm39)	V340A	probably benign	Het
Mtr	A	C	13: 12,236,372 (GRCm39)	L618R	probably damaging	Het
Myo6	T	A	9: 80,124,991 (GRCm39)	D23E	unknown	Het
Nos1ap	A	G	1: 170,218,328 (GRCm39)	V27A	probably damaging	Het
Npc1	A	T	18: 12,328,129 (GRCm39)	I1060K	possibly damaging	Het
Nrbp1	T	A	5: 31,401,193 (GRCm39)	L23*	probably null	Het
Or10ag52	T	C	2: 87,044,148 (GRCm39)	I304T	probably damaging	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or6c6c	A	T	10: 129,540,753 (GRCm39)	K2I	possibly damaging	Het
Or8b3	C	A	9: 38,314,803 (GRCm39)	T211K	probably damaging	Het
Or9s13	G	A	1: 92,548,078 (GRCm39)	R150H	probably benign	Het
Pcdhgc5	A	T	18: 37,954,615 (GRCm39)	T630S	probably damaging	Het
Pgm2	C	A	5: 64,269,503 (GRCm39)	T530K	probably damaging	Het
Phf20l1	A	T	15: 66,475,922 (GRCm39)	N185I	probably damaging	Het
Pkp2	A	G	16: 16,031,313 (GRCm39)	D26G	probably damaging	Het
Rangap1	C	T	15: 81,594,696 (GRCm39)	E378K	probably benign	Het
Rapgef1	A	C	2: 29,569,210 (GRCm39)	I43L	probably benign	Het
Rbfox1	A	G	16: 7,094,892 (GRCm39)	T111A		Het
Rptn	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	3: 93,304,000 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,811 (GRCm39)	M287L	probably benign	Het
Speer4a2	T	C	5: 26,289,690 (GRCm39)	S246G	possibly damaging	Het
Stau2	A	G	1: 16,416,049 (GRCm39)	M470T	probably benign	Het
Tcf12	T	C	9: 71,922,933 (GRCm39)	Y70C	probably damaging	Het
Tsc22d1	C	T	14: 76,654,460 (GRCm39)	T313M	probably benign	Het
Vmn1r52	T	A	6: 90,156,239 (GRCm39)	M181K	possibly damaging	Het
Zbtb48	A	T	4: 152,106,567 (GRCm39)	C345S	probably damaging	Het
Zfp628	G	A	7: 4,921,958 (GRCm39)	R60Q	probably damaging	Het
Zfp638	T	C	6: 83,906,713 (GRCm39)	S293P	possibly damaging	Het
Zkscan17	G	A	11: 59,393,770 (GRCm39)	P183S	probably benign	Het
Zscan12	G	T	13: 21,547,897 (GRCm39)	K26N	probably benign	Het

Other mutations in Kcnj16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Kcnj16	APN	11	110,916,034 (GRCm39)	missense	probably benign	0.15
IGL00596:Kcnj16	APN	11	110,915,349 (GRCm39)	missense	probably damaging	0.99
IGL02152:Kcnj16	APN	11	110,916,036 (GRCm39)	missense	probably benign	0.01
IGL02637:Kcnj16	APN	11	110,916,439 (GRCm39)	missense	probably benign	0.13
R0054:Kcnj16	UTSW	11	110,915,549 (GRCm39)	missense	probably damaging	1.00
R0054:Kcnj16	UTSW	11	110,915,549 (GRCm39)	missense	probably damaging	1.00
R1256:Kcnj16	UTSW	11	110,916,262 (GRCm39)	missense	probably damaging	0.99
R1557:Kcnj16	UTSW	11	110,916,067 (GRCm39)	missense	possibly damaging	0.94
R1919:Kcnj16	UTSW	11	110,915,779 (GRCm39)	missense	possibly damaging	0.86
R1985:Kcnj16	UTSW	11	110,916,409 (GRCm39)	missense	probably benign	0.00
R2047:Kcnj16	UTSW	11	110,915,946 (GRCm39)	splice site	probably null
R2504:Kcnj16	UTSW	11	110,916,409 (GRCm39)	missense	probably benign	0.00
R3915:Kcnj16	UTSW	11	110,916,382 (GRCm39)	missense	probably benign	0.34
R6102:Kcnj16	UTSW	11	110,916,403 (GRCm39)	missense	probably benign	0.39
R6225:Kcnj16	UTSW	11	110,916,378 (GRCm39)	nonsense	probably null
R6554:Kcnj16	UTSW	11	110,916,131 (GRCm39)	nonsense	probably null
R6620:Kcnj16	UTSW	11	110,915,473 (GRCm39)	missense	probably damaging	1.00
R7747:Kcnj16	UTSW	11	110,915,569 (GRCm39)	missense	probably damaging	1.00
R7990:Kcnj16	UTSW	11	110,915,886 (GRCm39)	missense	probably damaging	0.99
R8414:Kcnj16	UTSW	11	110,916,441 (GRCm39)	missense	probably benign
R8810:Kcnj16	UTSW	11	110,915,677 (GRCm39)	missense	possibly damaging	0.91
R8932:Kcnj16	UTSW	11	110,915,829 (GRCm39)	missense	probably damaging	1.00
X0021:Kcnj16	UTSW	11	110,915,953 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnj16	UTSW	11	110,916,596 (GRCm39)	missense	probably benign
Z1177:Kcnj16	UTSW	11	110,915,379 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GTCAGACTGCTAAGATGGAAATTG -3'
(R):5'- ATATGGCGCCACTTGGTATCC -3'

Sequencing Primer
(F):5'- ACTGCTAAGATGGAAATTGGAATC -3'
(R):5'- GCCACTTGGTATCCACAAGAGTG -3'

Posted On

2020-07-13