Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Kcnj10'

358513

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

041602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172168777-172201652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172197266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 260 (D260G)

Ref Sequence

ENSEMBL: ENSMUSP00000054356 (fasta)

Gene Model

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

AlphaFold

Q9JM63

Predicted Effect

probably damaging
Transcript: ENSMUST00000056136
AA Change: D260G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054356
Gene: ENSMUSG00000044708
AA Change: D260G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
Ash2l	A	T	8: 26,308,623 (GRCm39)	I552N	probably damaging	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Cyp2d9	T	C	15: 82,338,602 (GRCm39)	L1P	probably null	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ghitm	A	G	14: 36,855,700 (GRCm39)	C8R	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Or8b38	T	C	9: 37,973,389 (GRCm39)	Y258H	probably damaging	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Wdr33	T	A	18: 32,021,500 (GRCm39)	H683Q	unknown	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	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
R0490:Kcnj10	UTSW	1	172,197,019 (GRCm39)	missense	probably damaging	0.96
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
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'- GGAAGAGTCTCCTCATTGGATG -3'
(R):5'- GCCACTTTCACAACCTGGTC -3'

Sequencing Primer
(F):5'- CTCATTGGATGCCAGGTGACAG -3'
(R):5'- TTTCACAACCTGGTCGAAAAGG -3'

Posted On

2015-11-11