|Institutional Source||Beutler Lab|
|Gene Name||CD38 antigen|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8134 (G1)|
|Chromosomal Location||43868553-43912375 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 43901448 bp (GRCm38)|
|Amino Acid Change||Leucine to Methionine at position 135 (L135M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030964 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030964]|
|PDB Structure||Crystal structure of the truncated extracellular domain of mouse CD38 [X-RAY DIFFRACTION]|
AA Change: L135M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L135M
|Meta Mutation Damage Score||0.8725|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: This gene encodes a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Knockout mice deficient for this gene display altered humoral immune responses. In addition, knockout mice exhibit higher locomotor activity and defects in nurturing and social behaviors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd38||
(F):5'- CTGTGGTAGACAATAGCAAAACTG -3'
(R):5'- AGTTCCCTTGCAGCTCAAAG -3'
(F):5'- AGTGCATGTCATTTATTCTGATGG -3'
(R):5'- GCTCAAAGCTCCCTTCCCAC -3'