|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 3|
|Synonyms||9830169H03Rik, 1200004I24Rik, C76747|
|Is this an essential gene?||Probably non essential (E-score: 0.193)|
|Stock #||R5017 (G1)|
|Chromosomal Location||27114899-27403911 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 27265530 bp|
|Amino Acid Change||Arginine to Leucine at position 20 (R20L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046486 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049206] [ENSMUST00000225949]|
|Predicted Effect||possibly damaging
AA Change: R20L
PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: R20L
|Predicted Effect||probably benign
AA Change: R40L
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|Coding Region Coverage||
|Validation Efficiency||96% (46/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef3||
(F):5'- CACAGAACTTAATAGTCGTGTGTG -3'
(R):5'- AAGTCACATCTCCACAGCTGG -3'
(F):5'- GTGTGTGTCGTGTCCCCATC -3'
(R):5'- GAGGTCCACTTGAAGCATGCATC -3'