|Institutional Source||Beutler Lab|
|Gene Name||potassium inwardly-rectifying channel, subfamily J, member 4|
|Synonyms||MB-IRK3, Kir 2.3, Kcnf2, IRK3|
|Is this an essential gene?||Probably non essential (E-score: 0.067)|
|Stock #||R3906 (G1)|
|Chromosomal Location||79483714-79505241 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 79485745 bp|
|Amino Acid Change||Histidine to Glutamine at position 11 (H11Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000094075 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057801]|
|Predicted Effect||probably benign
AA Change: H11Q
PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: H11Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0698|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnj4||
(F):5'- TCCAGGTCACCATGGAAGAAG -3'
(R):5'- AGTCTTGAGGTCTCATGTAGGC -3'
(F):5'- TCACCATGGAAGAAGGCAATGC -3'
(R):5'- AGGCTTTTCTGGTCCTGAGAGTC -3'