Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Kcnj16'

16486

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

038348-MU

Accession Numbers

Essential gene?

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

Stock #

R0054 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110858859-110918794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110915549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 70 (W70C)

Ref Sequence

ENSEMBL: ENSMUSP00000136382 (fasta)

Gene Model

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

AlphaFold

Q9Z307

Predicted Effect

probably damaging
Transcript: ENSMUST00000106635
AA Change: W70C

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

SMART Domains

Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: W70C

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 damaging
Transcript: ENSMUST00000106636
AA Change: W70C

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

SMART Domains

Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: W70C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125692
AA Change: W70C

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

SMART Domains

Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
AA Change: W70C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150902

SMART Domains

Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178798
AA Change: W70C

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

SMART Domains

Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: W70C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180023
AA Change: W70C

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

SMART Domains

Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: W70C

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

Meta Mutation Damage Score

0.9293

Coding Region Coverage

1x: 88.8%
3x: 85.6%
10x: 76.3%
20x: 59.9%

Validation Efficiency

96% (91/95)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Creb5	A	G	6: 53,424,642 (GRCm39)	M128V	probably benign	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Ighv1-9	A	T	12: 114,547,602 (GRCm39)	F7L	probably benign	Het
Ints8	A	G	4: 11,204,595 (GRCm39)		probably benign	Het
Kpna6	T	C	4: 129,551,251 (GRCm39)	M85V	probably benign	Het
Kri1	G	A	9: 21,186,661 (GRCm39)	S447L	probably damaging	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mrpl44	T	C	1: 79,757,212 (GRCm39)	L219S	probably damaging	Het
Ms4a14	T	C	19: 11,281,303 (GRCm39)	I418M	probably benign	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Nsl1	T	C	1: 190,814,381 (GRCm39)	L194P	probably damaging	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	probably damaging	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
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
R8161:Kcnj16	UTSW	11	110,915,341 (GRCm39)	start codon destroyed	probably null	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

Posted On

2013-01-20