|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, interferon inducible double stranded RNA dependent activator|
|Synonyms||lear, PRK, Pact, RAX|
|Is this an essential gene?||Possibly essential (E-score: 0.585)|
|Stock #||R1609 (G1)|
|Chromosomal Location||76629898-76648015 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 76633592 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 242 (I242N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002808 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002808]|
|Predicted Effect||probably benign
AA Change: I242N
PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: I242N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0799|
|Coding Region Coverage||
|Validation Efficiency||96% (49/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a deletion of the entire gene show embryonic lethality prior to implantation. Mice homozygous for a deletion in the last exon are viable but exhibit small size, turbinate hypoplasia, short snout, severe microtia, outer and middle ear defects, and impaired hearing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkra||
(F):5'- GGTGGTGTTTTGCTCCCATAATCCC -3'
(R):5'- GCAAGCATTTGCTGCACTGAGG -3'
(F):5'- TAATCCCACCCAGCCCTTG -3'
(R):5'- acccatctctccatcccc -3'