|Institutional Source||Beutler Lab|
|Gene Name||RAS protein-specific guanine nucleotide-releasing factor 1|
|Synonyms||CDC25, Grfbeta, CDC25Mm, Grf1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1717 (G1)|
|Chromosomal Location||89909908-90026977 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 89953913 bp|
|Amino Acid Change||Glutamine to Histidine at position 231 (Q231H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034912 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034912]|
|Predicted Effect||probably damaging
AA Change: Q231H
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Q231H
|Meta Mutation Damage Score||0.084|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rasgrf1||
(F):5'- CCATACAGCGATGTTCCAGATCCC -3'
(R):5'- CCCTTCCGCTTACCTGTTCAGAAAG -3'
(F):5'- GGCCTGCCCTATACATATCAG -3'
(R):5'- CCTGTTCAGAAAGATACTGCTGAC -3'