Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Kcnj2'

706590

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110956990-110967647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110963719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 370 (N370K)

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 benign
Transcript: ENSMUST00000042970
AA Change: N370K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: N370K

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

Meta Mutation Damage Score

0.1197

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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
A1cf	T	A	19: 31,895,499 (GRCm39)	M194K	probably benign	Het
Abcg1	T	C	17: 31,333,122 (GRCm39)	S622P	probably benign	Het
Ahnak2	A	T	12: 112,748,446 (GRCm39)	V467E		Het
Amdhd2	T	C	17: 24,377,421 (GRCm39)	E164G	probably benign	Het
Ank3	G	A	10: 69,812,086 (GRCm39)		probably null	Het
Bank1	A	T	3: 135,799,308 (GRCm39)	N545K	probably benign	Het
C9orf72	A	G	4: 35,205,883 (GRCm39)	I247T		Het
Cep63	T	C	9: 102,467,723 (GRCm39)	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653 (GRCm39)	D65G	unknown	Het
Cspg4b	C	A	13: 113,453,710 (GRCm39)	Q58K		Het
Cyp2c50	A	G	19: 40,079,010 (GRCm39)	N118D	probably benign	Het
Dock10	C	T	1: 80,510,184 (GRCm39)	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,991,435 (GRCm39)	E44G	probably benign	Het
Ephb4	T	C	5: 137,361,529 (GRCm39)	S520P	probably damaging	Het
Eppk1	T	C	15: 75,993,755 (GRCm39)	E1042G	probably benign	Het
Fmod	A	T	1: 133,968,589 (GRCm39)	N210Y	probably damaging	Het
Fpr3	A	G	17: 18,191,713 (GRCm39)	D328G	probably damaging	Het
Garem2	T	G	5: 30,321,989 (GRCm39)	C783G	probably benign	Het
Gm10542	A	G	18: 44,337,689 (GRCm39)	N56D	probably damaging	Het
Gm20939	T	A	17: 95,184,424 (GRCm39)	N357K	probably benign	Het
Hr	A	G	14: 70,805,228 (GRCm39)	H990R	possibly damaging	Het
Il21r	A	G	7: 125,226,163 (GRCm39)	N53S	unknown	Het
Insrr	C	T	3: 87,721,604 (GRCm39)	T1170I	probably damaging	Het
Itga11	A	G	9: 62,638,034 (GRCm39)	M103V	probably damaging	Het
Izumo3	G	T	4: 92,035,050 (GRCm39)	Q56K	probably damaging	Het
Kcnh8	T	C	17: 53,146,084 (GRCm39)	V324A	probably damaging	Het
Klf16	G	T	10: 80,412,688 (GRCm39)	S116*	probably null	Het
Mettl16	T	C	11: 74,696,089 (GRCm39)	V310A	probably benign	Het
Misp3	G	T	8: 84,737,080 (GRCm39)	Q105K	unknown	Het
Mmrn2	G	A	14: 34,097,473 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,645,130 (GRCm39)	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,365,429 (GRCm39)	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,489,705 (GRCm39)		probably null	Het
Nckipsd	T	C	9: 108,691,699 (GRCm39)	I466T	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npffr2	A	G	5: 89,730,661 (GRCm39)	H197R	probably benign	Het
Nrap	T	A	19: 56,340,100 (GRCm39)	M842L	probably benign	Het
Nxpe4	G	A	9: 48,309,984 (GRCm39)	A416T	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or51t4	T	C	7: 102,597,687 (GRCm39)	V5A	probably benign	Het
Or52n20	A	G	7: 104,320,742 (GRCm39)	I278V	probably damaging	Het
Or5p53	T	A	7: 107,533,019 (GRCm39)	C97*	probably null	Het
Ppp1r15a	C	T	7: 45,174,035 (GRCm39)	A258T	possibly damaging	Het
Prss36	A	T	7: 127,532,570 (GRCm39)	Y760*	probably null	Het
Psg26	T	A	7: 18,216,480 (GRCm39)	T120S	probably damaging	Het
Ptk7	A	T	17: 46,878,977 (GRCm39)	L908Q	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc25a44	A	T	3: 88,328,025 (GRCm39)	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,321,486 (GRCm39)	T894A	probably damaging	Het
Tle4	A	G	19: 14,574,149 (GRCm39)	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Tmt1b	A	G	10: 128,794,607 (GRCm39)	M239T	probably benign	Het
Trpm3	T	C	19: 22,896,004 (GRCm39)	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,379,448 (GRCm39)	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,474,532 (GRCm39)	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,996,841 (GRCm39)	T143A	probably damaging	Het
Vps26b	T	C	9: 26,930,750 (GRCm39)	N82D	probably benign	Het
Zfp318	T	G	17: 46,721,892 (GRCm39)	F1298L	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
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
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'- GGAGTTCGTATCTGGCCAATG -3'
(R):5'- ACCAACGTCAGGCTGTGTAG -3'

Sequencing Primer
(F):5'- CAATGAAATTCTCTGGGGTCACCG -3'
(R):5'- GGAATCAGCCAGTCATATCTCCG -3'

Posted On

2022-04-18