Mutagenetix > Incidental Mutation

Incidental Mutation 'R5439:Kcnj2'

428539

Institutional Source

Beutler Lab

Gene Symbol

Kcnj2

Ensembl Gene

ENSMUSG00000041695

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 2

Synonyms

Kcnf1, IRK1, Kir2.1

MMRRC Submission

043004-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110956990-110967647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110963057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 150 (V150L)

Ref Sequence

ENSEMBL: ENSMUSP00000037192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042970]

AlphaFold

P35561

PDB Structure

Crystal Structure of Cytoplasmic Domains of IRK1 (Kir2.1) channel [X-RAY DIFFRACTION]
Cytoplasmic Domain Structure of Kir2.1 containing Andersen's Mutation R218Q and Rescue Mutation T309K [X-RAY DIFFRACTION]
Single particle analysis of Kir2.1NC_4 in negative stain [SOLUTION SCATTERING, ELECTRON MICROSCOPY]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042970
AA Change: V150L

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

SMART Domains

Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: V150L

Domain	Start	End	E-Value	Type
Pfam:IRK_N	1	47	2.9e-29	PFAM
Pfam:IRK	48	373	7.3e-158	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. [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
Aadacl4fm5	A	T	4: 144,504,683 (GRCm39)	I156N	probably damaging	Het
Abca1	C	A	4: 53,042,381 (GRCm39)	R1897L	possibly damaging	Het
Ablim2	A	G	5: 36,015,170 (GRCm39)	K461E	probably damaging	Het
Acss3	A	T	10: 106,773,008 (GRCm39)	Y659*	probably null	Het
Actr8	T	G	14: 29,708,952 (GRCm39)	L253R	probably damaging	Het
Arid4b	A	G	13: 14,362,281 (GRCm39)	K915R	probably damaging	Het
C3	T	C	17: 57,511,502 (GRCm39)	E1560G	probably benign	Het
Cacna1c	A	T	6: 118,631,333 (GRCm39)	I1013N	probably damaging	Het
Cep83	G	A	10: 94,625,600 (GRCm39)	R670H	probably benign	Het
Col19a1	T	A	1: 24,332,193 (GRCm39)	D870V	probably damaging	Het
Ddr2	A	G	1: 169,832,298 (GRCm39)	V164A	possibly damaging	Het
Dnaaf10	A	G	11: 17,162,031 (GRCm39)	D23G	possibly damaging	Het
Donson	A	T	16: 91,476,814 (GRCm39)	V549E	probably damaging	Het
Egflam	C	T	15: 7,254,144 (GRCm39)	G824R	probably damaging	Het
Extl3	A	G	14: 65,292,075 (GRCm39)	F916S	probably damaging	Het
Fam110c	A	G	12: 31,124,406 (GRCm39)	M123V	unknown	Het
G3bp1	A	T	11: 55,388,813 (GRCm39)	I342F	probably damaging	Het
Golgb1	A	G	16: 36,720,870 (GRCm39)	N409D	probably benign	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Hspb1	A	T	5: 135,918,186 (GRCm39)	T178S	probably benign	Het
Iigp1	A	G	18: 60,523,329 (GRCm39)	Y149C	probably damaging	Het
Il22	G	T	10: 118,045,366 (GRCm39)	G159*	probably null	Het
Jcad	T	C	18: 4,675,790 (GRCm39)	F1184S	probably damaging	Het
Kifc1	C	T	17: 34,105,639 (GRCm39)	R56Q	probably damaging	Het
Lce1h	A	G	3: 92,671,027 (GRCm39)	S42P	unknown	Het
Lrp4	C	A	2: 91,327,418 (GRCm39)	D1471E	probably benign	Het
Lrrc3	C	A	10: 77,737,299 (GRCm39)	V46L	probably benign	Het
Mcf2l	G	A	8: 12,976,646 (GRCm39)	A2T	possibly damaging	Het
Med12l	G	A	3: 59,170,634 (GRCm39)	C1673Y	probably null	Het
Nckap1	T	C	2: 80,343,034 (GRCm39)	E955G	possibly damaging	Het
Ndufs3	T	A	2: 90,732,690 (GRCm39)		probably null	Het
Nkx6-1	A	G	5: 101,809,698 (GRCm39)		probably null	Het
Obscn	C	A	11: 58,890,954 (GRCm39)	E1713*	probably null	Het
Or10ak12	G	A	4: 118,666,560 (GRCm39)	T167I	possibly damaging	Het
Or10g1b	A	G	14: 52,627,582 (GRCm39)	F216S	probably damaging	Het
Or10n1	A	G	9: 39,524,916 (GRCm39)	T18A	probably benign	Het
Or2n1	T	A	17: 38,486,917 (GRCm39)		probably null	Het
Or6n1	A	G	1: 173,917,541 (GRCm39)	R312G	probably benign	Het
Or7e165	A	C	9: 19,695,161 (GRCm39)	H244P	probably damaging	Het
Or8c15	A	G	9: 38,121,050 (GRCm39)	T234A	probably benign	Het
Osbpl5	A	G	7: 143,295,433 (GRCm39)	F10L	possibly damaging	Het
Plvap	A	C	8: 71,964,095 (GRCm39)	I89S	probably damaging	Het
Ppp2r2a	A	G	14: 67,259,772 (GRCm39)	V308A	possibly damaging	Het
Ppp2r5e	T	C	12: 75,540,250 (GRCm39)	S132G	probably benign	Het
Pum3	G	T	19: 27,389,659 (GRCm39)	Q398K	probably benign	Het
Ralgapa2	T	C	2: 146,184,430 (GRCm39)	T1526A	probably benign	Het
Sh3tc2	T	A	18: 62,122,704 (GRCm39)	Y488*	probably null	Het
Spmip7	A	T	11: 11,440,244 (GRCm39)	R8S	possibly damaging	Het
Sqle	A	G	15: 59,202,753 (GRCm39)	Y537C	probably benign	Het
Sult2a8	T	G	7: 14,159,439 (GRCm39)	K60T	probably damaging	Het
Tex15	T	C	8: 34,064,199 (GRCm39)	S1210P	possibly damaging	Het
Thumpd3	A	G	6: 113,043,825 (GRCm39)		silent	Het
Timeless	A	G	10: 128,077,604 (GRCm39)	D228G	probably damaging	Het
Trim31	A	T	17: 37,216,797 (GRCm39)		probably null	Het
Ttc39c	A	T	18: 12,828,428 (GRCm39)	D196V	possibly damaging	Het
Wbp4	C	A	14: 79,709,837 (GRCm39)	V133L	possibly damaging	Het
Zfp354c	G	T	11: 50,706,597 (GRCm39)	D159E	probably benign	Het
Zfp940	C	A	7: 29,544,858 (GRCm39)	D350Y	probably benign	Het

Other mutations in Kcnj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Kcnj2	APN	11	110,962,653 (GRCm39)	missense	probably damaging	1.00
IGL02448:Kcnj2	APN	11	110,963,108 (GRCm39)	missense	probably benign	0.00
R0090:Kcnj2	UTSW	11	110,963,853 (GRCm39)	missense	probably benign	0.02
R1162:Kcnj2	UTSW	11	110,963,793 (GRCm39)	missense	probably benign
R1990:Kcnj2	UTSW	11	110,963,709 (GRCm39)	missense	probably benign	0.00
R3948:Kcnj2	UTSW	11	110,963,481 (GRCm39)	missense	possibly damaging	0.73
R4417:Kcnj2	UTSW	11	110,963,015 (GRCm39)	missense	probably damaging	1.00
R4605:Kcnj2	UTSW	11	110,963,676 (GRCm39)	missense	probably damaging	1.00
R5191:Kcnj2	UTSW	11	110,963,297 (GRCm39)	nonsense	probably null
R5530:Kcnj2	UTSW	11	110,962,917 (GRCm39)	missense	probably damaging	1.00
R6167:Kcnj2	UTSW	11	110,963,315 (GRCm39)	missense	probably benign
R7126:Kcnj2	UTSW	11	110,963,648 (GRCm39)	missense	probably damaging	1.00
R7713:Kcnj2	UTSW	11	110,963,309 (GRCm39)	missense	probably benign	0.00
R8007:Kcnj2	UTSW	11	110,963,884 (GRCm39)	missense	probably benign	0.24
R9019:Kcnj2	UTSW	11	110,963,415 (GRCm39)	missense	probably damaging	1.00
R9072:Kcnj2	UTSW	11	110,962,664 (GRCm39)	missense	possibly damaging	0.49
R9073:Kcnj2	UTSW	11	110,962,664 (GRCm39)	missense	possibly damaging	0.49
R9252:Kcnj2	UTSW	11	110,963,355 (GRCm39)	missense	probably damaging	1.00
R9327:Kcnj2	UTSW	11	110,963,719 (GRCm39)	missense	probably benign	0.07
R9418:Kcnj2	UTSW	11	110,963,357 (GRCm39)	missense	probably damaging	1.00
X0052:Kcnj2	UTSW	11	110,962,682 (GRCm39)	missense	probably benign	0.13
Z1176:Kcnj2	UTSW	11	110,962,961 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGACATCTTTACTACCTGTGTC -3'
(R):5'- TCCCTCATGGCAATCACAGC -3'

Sequencing Primer
(F):5'- ACTACCTGTGTCGACATCCG -3'
(R):5'- CATTGTGACTGAAGACAAGAGTC -3'

Posted On

2016-09-01