|Institutional Source||Beutler Lab|
|Gene Name||RAS protein-specific guanine nucleotide-releasing factor 2|
|Is this an essential gene?||Probably non essential (E-score: 0.185)|
|Stock #||R8971 (G1)|
|Chromosomal Location||91880400-92131656 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 92021717 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 532 (E532G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096930 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099326] [ENSMUST00000216219]|
AA Change: E532G
PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: E532G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rasgrf2||
(F):5'- TAGGGACACAGTCTGCACAG -3'
(R):5'- AATCATTAGTGCTGCGTCTGG -3'
(F):5'- CACAGGGCAATAAGACAGAAATAG -3'
(R):5'- GGTGTGCCAACATTATTTGAAGC -3'