Incidental Mutation 'R6646:Ada'

• ID: 527968
• Institutional Source: Beutler Lab
• Gene Symbol: Ada
• Ensembl Gene: ENSMUSG00000017697
• Gene Name: adenosine deaminase
• MMRRC Submission: 044767-MU
• Essential gene?: Essential (E-score: 1.000)
• Stock #: R6646 (G1)
• Quality Score: 225.009
• Status: Validated
• Chromosome: 2
• Chromosomal Location: 163568504-163592159 bp(-) (GRCm39)
• Type of Mutation: missense
• DNA Base Change (assembly): G to T at 163577343 bp (GRCm39)
• Zygosity: Heterozygous
• Amino Acid Change: Asparagine to Lysine at position 48 (N48K)
• Ref Sequence: ENSEMBL: ENSMUSP00000017841
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000017841]
• AlphaFold: P03958
• PDB Structure: ADA STRUCTURE COMPLEXED WITH DEOXYCOFORMYCIN AT PH 7.0 [X-RAY DIFFRACTION] ; ADA STRUCTURE COMPLEXED WITH PURINE RIBOSIDE AT PH 7.0 [X-RAY DIFFRACTION] ; A PRE-TRANSITION STATE MIMIC OF AN ENZYME: X-RAY STRUCTURE OF ADENOSINE DEAMINASE WITH BOUND 1-DEAZA-ADENOSINE AND ZINC-ACTIVATED WATER [X-RAY DIFFRACTION] ; MURINE ADENOSINE DEAMINASE (D295E) [X-RAY DIFFRACTION] ; MURINE ADENOSINE DEAMINASE (D296A) [X-RAY DIFFRACTION] ; ADENOSINE DEAMINASE (HIS 238 ALA MUTANT) [X-RAY DIFFRACTION] ; ADENOSINE DEAMINASE (HIS 238 GLU MUTANT) [X-RAY DIFFRACTION] ; ATOMIC STRUCTURE OF ADENOSINE DEAMINASE COMPLEXED WITH A TRANSITION-STATE ANALOG: UNDERSTANDING CATALYSIS AND IMMUNODEFICIENCY MUTATIONS [X-RAY DIFFRACTION] ; Crystal structuore of adenosine deaminase from mus musculus complexed with 9-deazainosine [X-RAY DIFFRACTION] ; Crystal structure of holo mADA at 1.6 A resolution [X-RAY DIFFRACTION] ; >> 2 additional structures at PDB <<
• Predicted Effect: probably benign; Transcript: ENSMUST00000017841; AA Change: N48K; PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
• SMART Domains: Protein: ENSMUSP00000017841; Gene: ENSMUSG00000017697; AA Change: N48K

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	8	346	1.3e-111	PFAM

• Predicted Effect: noncoding transcript; Transcript: ENSMUST00000156939
• Coding Region Coverage:
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
• Validation Efficiency: 100% (41/41)
• MGI Phenotype: 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]
• Posted On: 2018-07-24

Predicted Primers

PCR Primer
(F):5'- GTGCAGAGTGCCTTGTACAG -3'
(R):5'- GGCTTCCAGTCTGTTCCATG -3'

Sequencing Primer
(F):5'- AGTGCCTTGTACAGCAGCAG -3'
(R):5'- CATTGGATCCCCTGGAATTAGAG -3'