Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Kcnj11'

15611

Institutional Source

Beutler Lab

Gene Symbol

Kcnj11

Ensembl Gene

ENSMUSG00000096146

Gene Name

potassium inwardly rectifying channel, subfamily J, member 11

Synonyms

Kir6.2

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45746545-45750215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45748363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 320 (A320V)

Ref Sequence

ENSEMBL: ENSMUSP00000147439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180081] [ENSMUST00000209291] [ENSMUST00000209881] [ENSMUST00000211674]

AlphaFold

Q61743

Predicted Effect

probably benign
Transcript: ENSMUST00000180081
AA Change: A233V

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146
AA Change: A233V

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Pfam:IRK	36	360	4.9e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209863

Predicted Effect

probably benign
Transcript: ENSMUST00000209881

Predicted Effect

probably benign
Transcript: ENSMUST00000211674
AA Change: A320V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,924,142 (GRCm39)		probably benign	Het
Arhgef12	A	T	9: 42,889,529 (GRCm39)	W1029R	probably damaging	Het
Aunip	T	A	4: 134,250,823 (GRCm39)	L256*	probably null	Het
Bahcc1	T	A	11: 120,180,597 (GRCm39)	M2607K	probably damaging	Het
Bltp3b	A	G	10: 89,611,831 (GRCm39)	T5A	probably damaging	Het
Cacng6	G	T	7: 3,480,384 (GRCm39)	M152I	possibly damaging	Het
Cep120	A	G	18: 53,842,119 (GRCm39)		probably benign	Het
D130043K22Rik	T	A	13: 25,064,795 (GRCm39)	V737D	probably damaging	Het
Dock10	A	G	1: 80,583,642 (GRCm39)	S187P	probably damaging	Het
Eogt	C	T	6: 97,111,234 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,698,824 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,431,099 (GRCm39)	V2745M	probably damaging	Het
Fshb	T	C	2: 106,887,690 (GRCm39)	S110G	probably benign	Het
Gpi1	A	G	7: 33,920,324 (GRCm39)	Y144H	probably damaging	Het
Gsap	T	C	5: 21,475,620 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc3	T	C	6: 58,862,050 (GRCm39)		probably benign	Het
Il1r2	C	T	1: 40,164,210 (GRCm39)	T359M	probably damaging	Het
Il6st	T	C	13: 112,637,682 (GRCm39)	C563R	possibly damaging	Het
Irs1	T	A	1: 82,264,977 (GRCm39)	K1080*	probably null	Het
Itpr1	T	C	6: 108,331,587 (GRCm39)	V182A	probably damaging	Het
Kalrn	C	T	16: 34,018,884 (GRCm39)		probably benign	Het
Lrig1	T	A	6: 94,584,330 (GRCm39)	R905*	probably null	Het
Lrrc43	T	C	5: 123,639,378 (GRCm39)	L469P	probably damaging	Het
Med29	A	T	7: 28,090,501 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,578,623 (GRCm39)	I18M	probably benign	Het
Nalcn	A	C	14: 123,744,901 (GRCm39)	C376G	probably benign	Het
Ncor2	C	T	5: 125,196,545 (GRCm39)		probably null	Het
Nek1	T	A	8: 61,542,768 (GRCm39)	M786K	probably benign	Het
Nrxn2	A	G	19: 6,559,987 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,231,080 (GRCm39)	I430V	probably benign	Het
Pcolce2	A	G	9: 95,577,017 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,241,932 (GRCm39)	L273M	probably damaging	Het
Pml	A	T	9: 58,127,776 (GRCm39)	S610R	probably damaging	Het
Polk	C	A	13: 96,641,124 (GRCm39)	R144S	probably damaging	Het
Rlf	A	G	4: 121,003,769 (GRCm39)	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,285,703 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,292,045 (GRCm39)	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,495,183 (GRCm39)	I296T	probably benign	Het
Slc15a3	A	G	19: 10,833,404 (GRCm39)	I474V	probably damaging	Het
Sstr1	T	C	12: 58,259,935 (GRCm39)	L186S	probably damaging	Het
Tmem108	A	T	9: 103,366,539 (GRCm39)	V484D	possibly damaging	Het
Trim69	A	T	2: 122,004,958 (GRCm39)		probably null	Het
Trim80	T	G	11: 115,338,768 (GRCm39)	Y533D	probably damaging	Het
Unc13b	T	C	4: 43,096,990 (GRCm39)	I121T	possibly damaging	Het
Usp40	T	C	1: 87,906,133 (GRCm39)	T701A	probably benign	Het
Xpr1	A	G	1: 155,208,145 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,090 (GRCm39)	I219N	probably damaging	Het
Zfp219	G	T	14: 52,246,485 (GRCm39)	T169K	probably damaging	Het

Other mutations in Kcnj11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Kcnj11	APN	7	45,748,193 (GRCm39)	missense	probably benign	0.02
IGL01767:Kcnj11	APN	7	45,748,489 (GRCm39)	missense	probably benign	0.05
IGL01950:Kcnj11	APN	7	45,748,573 (GRCm39)	missense	probably damaging	1.00
IGL02388:Kcnj11	APN	7	45,749,213 (GRCm39)	missense	probably benign	0.22
R0710:Kcnj11	UTSW	7	45,748,549 (GRCm39)	missense	probably benign	0.00
R1216:Kcnj11	UTSW	7	45,749,285 (GRCm39)	missense	probably benign	0.00
R1819:Kcnj11	UTSW	7	45,748,580 (GRCm39)	missense	probably benign
R2155:Kcnj11	UTSW	7	45,748,781 (GRCm39)	missense	probably damaging	1.00
R3148:Kcnj11	UTSW	7	45,748,544 (GRCm39)	missense	probably benign	0.00
R3498:Kcnj11	UTSW	7	45,749,026 (GRCm39)	missense	probably damaging	1.00
R4128:Kcnj11	UTSW	7	45,749,143 (GRCm39)	missense	probably damaging	1.00
R4766:Kcnj11	UTSW	7	45,749,240 (GRCm39)	missense	probably benign
R4926:Kcnj11	UTSW	7	45,748,544 (GRCm39)	missense	probably benign	0.00
R5680:Kcnj11	UTSW	7	45,748,232 (GRCm39)	missense	probably benign
R5708:Kcnj11	UTSW	7	45,749,242 (GRCm39)	missense	probably benign	0.00
R7487:Kcnj11	UTSW	7	45,748,265 (GRCm39)	missense	probably benign	0.01
R7788:Kcnj11	UTSW	7	45,749,179 (GRCm39)	missense	probably damaging	1.00
R7816:Kcnj11	UTSW	7	45,749,281 (GRCm39)	missense	probably damaging	1.00
R9189:Kcnj11	UTSW	7	45,748,176 (GRCm39)	missense	possibly damaging	0.85

Posted On

2012-12-21