Mutagenetix > Incidental Mutation

Incidental Mutation 'R0490:Kcnj10'

43419

Institutional Source

Beutler Lab

Gene Symbol

Kcnj10

Ensembl Gene

ENSMUSG00000044708

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 10

Synonyms

Kir4.1, BIRK-1, Kir4.1, Kir1.2, BIR10

MMRRC Submission

038688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0490 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172168777-172201652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172197019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 178 (T178A)

Ref Sequence

ENSEMBL: ENSMUSP00000054356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056136]

AlphaFold

Q9JM63

Predicted Effect

probably damaging
Transcript: ENSMUST00000056136
AA Change: T178A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: T178A

Domain	Start	End	E-Value	Type
Pfam:IRK	31	363	2.2e-136	PFAM

Meta Mutation Damage Score

0.5584

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,103,338 (GRCm39)	Y640N	probably damaging	Het
Adamts9	T	A	6: 92,849,847 (GRCm39)	Q402L	probably benign	Het
Als2cl	A	G	9: 110,724,414 (GRCm39)	T750A	probably benign	Het
Ank1	C	A	8: 23,597,890 (GRCm39)		probably benign	Het
Ap4e1	T	A	2: 126,888,106 (GRCm39)	N404K	probably damaging	Het
Atf7ip	G	T	6: 136,586,190 (GRCm39)		probably benign	Het
Bean1	A	T	8: 104,941,660 (GRCm39)	T169S	possibly damaging	Het
Bod1l	G	T	5: 41,979,235 (GRCm39)	T693N	probably damaging	Het
Ccdc81	A	T	7: 89,536,970 (GRCm39)	V226D	probably benign	Het
Cd48	A	G	1: 171,532,445 (GRCm39)	*241W	probably null	Het
Cdon	C	A	9: 35,363,978 (GRCm39)	S32Y	probably damaging	Het
Cers3	A	G	7: 66,423,438 (GRCm39)	S128G	possibly damaging	Het
Cntn6	T	C	6: 104,810,879 (GRCm39)	V641A	possibly damaging	Het
Col6a4	G	A	9: 105,890,969 (GRCm39)	T1775I	probably damaging	Het
Dnah8	T	C	17: 30,919,393 (GRCm39)	V1122A	probably benign	Het
Dst	G	T	1: 34,346,449 (GRCm39)	G5102*	probably null	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Epha5	G	T	5: 84,255,833 (GRCm39)		probably benign	Het
Fscb	G	A	12: 64,519,661 (GRCm39)	P602S	unknown	Het
Fxn	A	G	19: 24,254,543 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,808,291 (GRCm39)	L254P	possibly damaging	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Gng8	A	G	7: 16,628,908 (GRCm39)	T14A	probably benign	Het
Gsdmc3	C	T	15: 63,732,099 (GRCm39)	G309D	possibly damaging	Het
Gsr	T	A	8: 34,161,540 (GRCm39)		probably benign	Het
Gtdc1	A	T	2: 44,525,052 (GRCm39)	D152E	probably benign	Het
Herc1	A	G	9: 66,392,281 (GRCm39)	D4063G	probably damaging	Het
Hsdl2	C	T	4: 59,612,814 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 88,021,363 (GRCm39)		probably benign	Het
Lama5	T	A	2: 179,821,962 (GRCm39)	I2958F	possibly damaging	Het
Lnx1	T	A	5: 74,781,008 (GRCm39)		probably null	Het
Lpl	A	G	8: 69,349,343 (GRCm39)	R290G	probably damaging	Het
Mamdc4	C	T	2: 25,453,593 (GRCm39)	R1196K	probably benign	Het
Mogat2	T	C	7: 98,872,351 (GRCm39)	S167G	probably benign	Het
Nek8	T	A	11: 78,058,555 (GRCm39)	I582F	probably benign	Het
Notch4	T	A	17: 34,801,864 (GRCm39)	D1237E	probably damaging	Het
Or2y8	A	G	11: 52,035,493 (GRCm39)	I288T	probably damaging	Het
Or5b104	A	G	19: 13,072,176 (GRCm39)	Y279H	probably damaging	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Or9i14	A	G	19: 13,792,219 (GRCm39)	L245P	probably damaging	Het
Pcdhb8	T	C	18: 37,489,833 (GRCm39)	S504P	probably damaging	Het
Pigs	T	C	11: 78,226,451 (GRCm39)	S223P	probably damaging	Het
Prkch	A	G	12: 73,806,450 (GRCm39)	I566V	probably damaging	Het
Ptpn22	T	C	3: 103,793,495 (GRCm39)	S549P	probably damaging	Het
Rita1	A	T	5: 120,749,630 (GRCm39)	F28I	probably damaging	Het
Rpgrip1l	A	T	8: 92,026,473 (GRCm39)		probably benign	Het
Slc1a1	A	G	19: 28,874,931 (GRCm39)	K170E	probably benign	Het
Spag17	C	T	3: 99,889,727 (GRCm39)	R199W	probably damaging	Het
Tas2r116	T	C	6: 132,832,984 (GRCm39)	V195A	probably benign	Het
Trav7d-3	C	A	14: 52,982,007 (GRCm39)		probably benign	Het
Trim15	T	C	17: 37,177,247 (GRCm39)	K138E	probably benign	Het
Ttn	T	A	2: 76,539,174 (GRCm39)	H34604L	probably benign	Het
Ttn	C	T	2: 76,577,876 (GRCm39)	R16012K	probably damaging	Het
Zfp948	T	C	17: 21,808,296 (GRCm39)	V496A	probably benign	Het
Zfy2	A	T	Y: 2,106,620 (GRCm39)	S671R	possibly damaging	Het
Zswim1	T	A	2: 164,667,203 (GRCm39)	Y152N	possibly damaging	Het

Other mutations in Kcnj10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Kcnj10	APN	1	172,197,150 (GRCm39)	missense	probably benign	0.11
IGL02743:Kcnj10	APN	1	172,197,221 (GRCm39)	missense	possibly damaging	0.95
R0052:Kcnj10	UTSW	1	172,196,491 (GRCm39)	missense	probably benign	0.30
R1424:Kcnj10	UTSW	1	172,196,822 (GRCm39)	missense	probably damaging	1.00
R2153:Kcnj10	UTSW	1	172,197,455 (GRCm39)	missense	possibly damaging	0.90
R3735:Kcnj10	UTSW	1	172,197,533 (GRCm39)	missense	possibly damaging	0.81
R3826:Kcnj10	UTSW	1	172,197,616 (GRCm39)	missense	probably damaging	1.00
R4725:Kcnj10	UTSW	1	172,196,726 (GRCm39)	missense	probably damaging	1.00
R4726:Kcnj10	UTSW	1	172,196,639 (GRCm39)	missense	probably damaging	1.00
R4727:Kcnj10	UTSW	1	172,197,266 (GRCm39)	missense	probably damaging	1.00
R5434:Kcnj10	UTSW	1	172,197,047 (GRCm39)	missense	probably damaging	1.00
R5755:Kcnj10	UTSW	1	172,197,161 (GRCm39)	missense	possibly damaging	0.81
R6146:Kcnj10	UTSW	1	172,196,892 (GRCm39)	nonsense	probably null
R7029:Kcnj10	UTSW	1	172,196,563 (GRCm39)	missense	probably benign	0.07
R7235:Kcnj10	UTSW	1	172,196,993 (GRCm39)	missense	probably damaging	0.98
R7350:Kcnj10	UTSW	1	172,196,827 (GRCm39)	missense	possibly damaging	0.52
R8121:Kcnj10	UTSW	1	172,196,809 (GRCm39)	missense	probably damaging	1.00
R8218:Kcnj10	UTSW	1	172,196,539 (GRCm39)	missense	probably damaging	0.98
R8702:Kcnj10	UTSW	1	172,197,127 (GRCm39)	missense	probably benign	0.27
R8991:Kcnj10	UTSW	1	172,196,963 (GRCm39)	missense	probably damaging	0.99
Z1177:Kcnj10	UTSW	1	172,196,788 (GRCm39)	missense	probably benign	0.14
Z1177:Kcnj10	UTSW	1	172,196,702 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CGACCTTCATTGACATGCAATGGC -3'
(R):5'- ATCGCAGGCGTGAACTCGTAAC -3'

Sequencing Primer
(F):5'- TGCAACCTTTGCAGGCAC -3'
(R):5'- CTTGGAAAGTCACGTTGACC -3'

Posted On

2013-05-23