Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Kcnj16'

504283

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

044356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110858859-110918794 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 110916378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 347 (K347*)

Ref Sequence

ENSEMBL: ENSMUSP00000136382 (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: K347*

SMART Domains

Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: K347*

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: K347*

SMART Domains

Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: K347*

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

SMART Domains

Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000178798
AA Change: K347*

SMART Domains

Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: K347*

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: K347*

SMART Domains

Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: K347*

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

0.9753

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,870,445 (GRCm39)	H288R	possibly damaging	Het
Adh1	T	C	3: 137,995,565 (GRCm39)	F323L	probably benign	Het
Adss1	A	C	12: 112,600,837 (GRCm39)	H226P	probably damaging	Het
Ahrr	A	G	13: 74,371,031 (GRCm39)	S230P	possibly damaging	Het
Akap9	T	C	5: 4,012,105 (GRCm39)	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,759,268 (GRCm39)	Y339H	probably damaging	Het
Bltp1	T	C	3: 37,002,453 (GRCm39)	V1466A	probably damaging	Het
C4b	C	A	17: 34,957,848 (GRCm39)	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,205,427 (GRCm39)	M128V	probably damaging	Het
Chia1	T	C	3: 106,038,213 (GRCm39)	S370P	possibly damaging	Het
Cops6	T	C	5: 138,159,673 (GRCm39)	V9A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,321 (GRCm39)	I193K	probably benign	Het
Daam2	T	C	17: 49,801,467 (GRCm39)	D90G	probably damaging	Het
Fads3	A	G	19: 10,019,202 (GRCm39)	D36G	probably benign	Het
Fam185a	T	C	5: 21,630,554 (GRCm39)	V130A	probably damaging	Het
Fbn1	A	T	2: 125,172,463 (GRCm39)	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,615,843 (GRCm39)	M110V	probably benign	Het
G2e3	A	G	12: 51,415,919 (GRCm39)	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,226,830 (GRCm39)	T462I	probably damaging	Het
Glrx2	T	A	1: 143,621,121 (GRCm39)		probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,425,605 (GRCm39)	K275*	probably null	Het
Gm6569	A	G	15: 73,711,640 (GRCm39)		probably benign	Het
Herc6	G	T	6: 57,639,139 (GRCm39)	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,209,459 (GRCm39)		probably null	Het
Kcnt2	T	A	1: 140,354,661 (GRCm39)	C305*	probably null	Het
Large2	A	G	2: 92,196,825 (GRCm39)	L477P	probably damaging	Het
Lnpep	T	C	17: 17,799,245 (GRCm39)	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,534,215 (GRCm39)		probably null	Het
Mical3	C	T	6: 120,935,684 (GRCm39)	S1614N	probably damaging	Het
Mmut	T	A	17: 41,249,622 (GRCm39)	V199E	possibly damaging	Het
Morc3	C	A	16: 93,642,082 (GRCm39)	Y100*	probably null	Het
Mrc2	A	G	11: 105,237,646 (GRCm39)	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,960,835 (GRCm39)	V243A	probably damaging	Het
Mtor	T	A	4: 148,605,794 (GRCm39)	N1505K	probably benign	Het
Myo1g	A	T	11: 6,469,168 (GRCm39)	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,325,905 (GRCm39)	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,056,099 (GRCm39)	T66A	probably damaging	Het
Nos1	T	A	5: 118,050,917 (GRCm39)	H779Q	probably damaging	Het
Or12e13	A	G	2: 87,663,661 (GRCm39)	T93A	probably benign	Het
Or13j1	T	C	4: 43,705,698 (GRCm39)	Y290C	probably damaging	Het
Or1e23	T	C	11: 73,407,831 (GRCm39)	N65D	probably damaging	Het
Or4c3	A	G	2: 89,851,573 (GRCm39)		probably null	Het
Or51ah3	A	T	7: 103,210,489 (GRCm39)	R268S	probably benign	Het
Or5au1	C	A	14: 52,272,825 (GRCm39)	V248L	possibly damaging	Het
Or5k16	T	C	16: 58,736,545 (GRCm39)	N153S	probably benign	Het
Otog	C	T	7: 45,898,458 (GRCm39)	T192I	possibly damaging	Het
Oxct1	T	C	15: 4,064,812 (GRCm39)	V50A	probably benign	Het
P3h2	T	A	16: 25,784,493 (GRCm39)	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,638,047 (GRCm39)	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,670,083 (GRCm39)	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,407,674 (GRCm39)	V81A	possibly damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,095,469 (GRCm39)	I406T	probably benign	Het
Ppat	T	C	5: 77,070,202 (GRCm39)	I173V	probably damaging	Het
Proser3	T	C	7: 30,243,153 (GRCm39)	S167G	probably damaging	Het
Rnf135	A	C	11: 80,080,053 (GRCm39)	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,414,536 (GRCm39)	R65C	probably benign	Het
Scel	T	C	14: 103,829,420 (GRCm39)	F405L	probably benign	Het
Serinc3	A	G	2: 163,469,799 (GRCm39)	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,764,102 (GRCm39)	T53K	probably damaging	Het
Slco1a1	A	T	6: 141,870,215 (GRCm39)	F308I	possibly damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smok3c	T	C	5: 138,063,314 (GRCm39)	V267A	probably benign	Het
Ssrp1	A	G	2: 84,873,158 (GRCm39)	D473G	probably benign	Het
Svs6	A	G	2: 164,159,405 (GRCm39)	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,607,547 (GRCm39)		probably benign	Het
Thoc3	T	C	13: 54,615,785 (GRCm39)	N93S	probably benign	Het
Tle6	A	G	10: 81,428,600 (GRCm39)	C443R	probably damaging	Het
Tmed6	A	G	8: 107,788,371 (GRCm39)	F192S	probably damaging	Het
Tpx2	A	G	2: 152,718,548 (GRCm39)	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,397,638 (GRCm39)	N207Y	probably benign	Het
Zfp267	T	C	3: 36,220,352 (GRCm39)	F792L	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp972	A	T	2: 177,549,117 (GRCm39)		probably null	Het
Zzef1	G	A	11: 72,760,631 (GRCm39)	C1318Y	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTGATTCCACTGGGACATC -3'
(R):5'- TCTGGGATTCCATGGAGATCC -3'

Sequencing Primer
(F):5'- TCCCACCAGTCCAGAAGTTC -3'
(R):5'- TCCTATTTAAAGTCAGGAGGGC -3'

Posted On

2018-02-28