This mutation was discovered in an ENU mutagenesis screen for mutations that do not interfere with the initial antibody response to an immunogen, but prevent its maturation and persistence. The mutation comprises a T to C transition that replaces an absolutely conserved serine at amino acid position 1827, in the DOCK-homology region 2 (DHR2) domain of the protein, with proline (S1827P). DHR2 is known to bind to G proteins of the Rho family, promoting GTP --> GDP exchange and initiating a variety of cellular responses. The S1827P substitution is predicted to disrupt the structure of DHR2 lobe B alpha-helix 6 and thus to interfere with its GTP --> GDP exchange function. (J:155516)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JAnu
Chemically induced
Single point
Recessive
1
4
8

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top