|Institutional Source||Beutler Lab|
|Gene Name||potassium inwardly-rectifying channel, subfamily J, member 2|
|Synonyms||IRK1, Kcnf1, Kir2.1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4417 (G1)|
|Chromosomal Location||111066164-111076821 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 111072189 bp|
|Amino Acid Change||Serine to Proline at position 136 (S136P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037192 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042970]|
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
AA Change: S136P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S136P
|Meta Mutation Damage Score||0.9563|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
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||
|Other mutations in Kcnj2||
(F):5'- TTACTACCTGTGTCGACATCCG -3'
(R):5'- AGAGTTTGCCATCCCTCATG -3'
(F):5'- TGTGTCGACATCCGCTGGAG -3'
(R):5'- TCATGGCAATCACAGCATTG -3'