|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)|
|Is this an essential gene?||Possibly non essential (E-score: 0.340)|
|Stock #||R4227 (G1)|
|Chromosomal Location||166805588-166898052 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 166867324 bp|
|Amino Acid Change||Aspartic acid to Valine at position 1107 (D1107V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096677 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099078]|
|Predicted Effect||probably damaging
AA Change: D1107V
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: D1107V
|Meta Mutation Damage Score||0.6199|
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arfgef2||
(F):5'- TGTGGCCACTGTTAATGTCTC -3'
(R):5'- CTGCAGCTAACGTGGTCTTTAG -3'
(F):5'- TCTGCCTTTTCTGAGTACTTGAG -3'
(R):5'- TTAGATGCTGGCAGTCACC -3'