|Institutional Source||Beutler Lab|
|Gene Name||G protein-coupled receptor kinase 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1565 (G1)|
|Chromosomal Location||60889749-61092553 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61089972 bp|
|Amino Acid Change||Valine to Alanine at position 489 (V489A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003313 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003313] [ENSMUST00000122927]|
|Predicted Effect||probably damaging
AA Change: V489A
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: V489A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2836|
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a decrease in thermal pain sensation. Mice homozygous for a knock-out allele exhibit decreased response of heart to induced stress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grk5||
(F):5'- CACTAGAACCTGGTCCCTTTTGCG -3'
(R):5'- AATCTCTGCTACCCTACCCAGTGAC -3'
(F):5'- TCAGTCTGAGGACCCAAGTG -3'
(R):5'- ACCCAGTGACCTTCTATGCAC -3'