|Institutional Source||Beutler Lab|
|Gene Name||adenosine deaminase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0053 (G1)|
|Chromosomal Location||163726584-163750239 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 163732292 bp|
|Amino Acid Change||Valine to Aspartic acid at position 148 (V148D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017841]|
|Predicted Effect||probably damaging
AA Change: V148D
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: V148D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die perinatally with defective purine metabolism and severe liver cell degeneration, but lack thymic abnormalities. Replacement of placental ADA can rescue ADA-deficient fetuses, resulting in mice that are T and B-cell deficient, have elevated dATP levels, and immune deficiencies resembling human ADA deficiency. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ada||
(F):5'- GGCTGTCAAGTCCCAGATTTCCTG -3'
(R):5'- TTGAGGCTGTGTCTCTCCCCTAAG -3'
(F):5'- GTCCCAGATTTCCTGTTAAGGAGAC -3'
(R):5'- TCAATGAATGAGTCTGGCCC -3'