|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, X-linked|
|Is this an essential gene?||Possibly non essential (E-score: 0.309)|
|Stock #||R2019 (G1)|
|Chromosomal Location||77761411-77796278 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 77765404 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 270 (D270G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045304 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036333]|
|Predicted Effect||probably damaging
AA Change: D270G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D270G
|Meta Mutation Damage Score||0.6709|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkx||
(F):5'- TCCACTGTGGCAGGTAATAAAC -3'
(R):5'- GACTGTCTATAGCTCACATGGC -3'
(F):5'- GATGACATCACCGTCAGT -3'
(R):5'- CAGTCTGCATCCGTGGCATATAG -3'