|Institutional Source||Beutler Lab|
|Gene Name||Rap guanine nucleotide exchange factor (GEF) 2|
|Synonyms||CNRasGEF, RA-GEF-1, Pdzgef1, nRapGEP, 5830453M24Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7957 (G1)|
|Chromosomal Location||79062516-79286517 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79214969 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 30 (E30G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000141542 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000195708]|
|Predicted Effect||probably benign
AA Change: E30G
PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: E30G
|Meta Mutation Damage Score||0.1789|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rapgef2||
(F):5'- ATGCAACTGAACTCAACCTTGC -3'
(R):5'- CTGAAGGCAGTTGTAATGAATAGC -3'
(F):5'- TGAACTCAACCTTGCAAAAAGTATC -3'
(R):5'- GCATTTGAACATGCTAGCTTTTC -3'