Mutagenetix > Incidental Mutation

Incidental Mutation 'R9019:Kcnj2'

686621

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

068849-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110956990-110967647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110963415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 269 (I269T)

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: I269T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: I269T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,011,522 (GRCm39)	T1174S		Het
Aoc2	C	T	11: 101,216,262 (GRCm39)	P115L	possibly damaging	Het
Arhgef19	C	T	4: 140,973,738 (GRCm39)	P75L	probably benign	Het
Atad3a	A	G	4: 155,838,052 (GRCm39)	V240A	possibly damaging	Het
AW551984	A	T	9: 39,508,973 (GRCm39)	L317*	probably null	Het
Bdkrb1	T	C	12: 105,570,700 (GRCm39)	S89P	probably damaging	Het
Bpifb4	T	A	2: 153,790,607 (GRCm39)	L166*	probably null	Het
Ccdc27	A	G	4: 154,124,014 (GRCm39)	V173A	unknown	Het
Ccl8	T	C	11: 82,006,877 (GRCm39)	V30A	probably benign	Het
Cdc16	C	T	8: 13,831,501 (GRCm39)	A578V	probably benign	Het
Cnksr1	T	C	4: 133,959,365 (GRCm39)	Y423C	probably damaging	Het
Cyp3a44	T	C	5: 145,727,519 (GRCm39)	D270G	probably damaging	Het
Ep300	A	G	15: 81,532,730 (GRCm39)	E1656G	unknown	Het
Eppk1	A	G	15: 75,992,472 (GRCm39)	F1470L	probably benign	Het
Fbxw16	T	A	9: 109,270,135 (GRCm39)	D202V	probably damaging	Het
Fndc3a	G	A	14: 72,811,840 (GRCm39)	T330I	probably benign	Het
Gm36864	A	T	7: 43,887,028 (GRCm39)	Q307L	probably benign	Het
Gm37240	T	C	3: 84,426,946 (GRCm39)	E38G	probably damaging	Het
Gm6871	A	T	7: 41,195,262 (GRCm39)	C492S	probably damaging	Het
Gnaq	T	C	19: 16,355,638 (GRCm39)	Y285H	probably benign	Het
Htt	T	A	5: 35,023,920 (GRCm39)	F1723I	probably damaging	Het
Il21r	G	A	7: 125,231,472 (GRCm39)	S300N	probably damaging	Het
Itm2b	G	A	14: 73,605,856 (GRCm39)		probably benign	Het
Kat6a	T	C	8: 23,425,754 (GRCm39)	S1100P	probably damaging	Het
Kmt2c	G	A	5: 25,488,208 (GRCm39)	A4635V	probably damaging	Het
Kng2	A	T	16: 22,847,546 (GRCm39)	D38E	probably damaging	Het
Lgr5	A	C	10: 115,314,454 (GRCm39)	L161R	probably damaging	Het
Lrig2	A	T	3: 104,368,914 (GRCm39)	I923N	probably benign	Het
Mrgprh	T	C	17: 13,096,200 (GRCm39)	S147P	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nsmaf	A	T	4: 6,418,523 (GRCm39)	S427R	probably damaging	Het
Or8g53	G	T	9: 39,684,038 (GRCm39)	D19E	probably benign	Het
Pdcd11	G	T	19: 47,101,658 (GRCm39)	G948C	probably damaging	Het
Pdzd2	A	G	15: 12,375,612 (GRCm39)	Y1508H	probably damaging	Het
Prmt5	G	T	14: 54,753,564 (GRCm39)	A105E	probably benign	Het
Prr23a3	T	C	9: 98,747,213 (GRCm39)	S56P	probably damaging	Het
Slc44a2	A	G	9: 21,265,077 (GRCm39)	E705G	probably damaging	Het
Sostdc1	A	T	12: 36,364,431 (GRCm39)	N47Y	probably benign	Het
Speg	T	C	1: 75,405,882 (GRCm39)	Y3029H	probably damaging	Het
Srd5a1	G	A	13: 69,748,413 (GRCm39)	R129*	probably null	Het
Srrm4	A	G	5: 116,605,586 (GRCm39)	S224P	unknown	Het
Syne2	A	G	12: 75,999,618 (GRCm39)	E2337G	possibly damaging	Het
Tmem150c	C	A	5: 100,240,958 (GRCm39)	V32L	probably benign	Het
Topaz1	T	C	9: 122,619,192 (GRCm39)	I1263T	possibly damaging	Het
Ttc39d	C	T	17: 80,523,349 (GRCm39)	R3W	probably benign	Het
Xylt1	T	C	7: 117,250,038 (GRCm39)		probably null	Het
Zfp933	A	T	4: 147,911,021 (GRCm39)	C192S	probably damaging	Het
Zswim8	G	A	14: 20,761,119 (GRCm39)	G129D	probably damaging	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
R5439:Kcnj2	UTSW	11	110,963,057 (GRCm39)	missense	probably damaging	1.00
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
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'- GCCTTCATCATTGGTGCAGTC -3'
(R):5'- CGGTGACCCCAGAGAATTTC -3'

Sequencing Primer
(F):5'- ACAATGCTGTGATTGCCATGAG -3'
(R):5'- GTGACCCCAGAGAATTTCATTGGC -3'

Posted On

2021-11-19