|Institutional Source||Beutler Lab|
|Gene Name||Rho-associated coiled-coil containing protein kinase 1|
|Is this an essential gene?||Probably essential (E-score: 0.946)|
|Stock #||R4352 (G1)|
|Chromosomal Location||10064401-10181792 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 10079237 bp|
|Amino Acid Change||Glutamine to Leucine at position 1077 (Q1077L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069549 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067947]|
|Predicted Effect||probably damaging
AA Change: Q1077L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Q1077L
|Meta Mutation Damage Score||0.26|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have open eyes at birth, omphalocele and most die soon after birth as a result of cannibalization by the mom. Survivors develop inflammation of the eyelid. Another homozygous mutant shows partial lethality around implantation and reduced cardiac fibrosis after pressure overload. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rock1||
(F):5'- GGCACAGCCTATTAGTACATTTG -3'
(R):5'- AGAAAACATCATCATCTGTGGC -3'
(F):5'- CATTTGAATAACCTGTTTACTTGAGC -3'
(R):5'- CTGTCAGAATTATTTGAGTCTGG -3'