Incidental Mutation 'R0053:Ada'
ID 64322
Institutional Source Beutler Lab
Gene Symbol Ada
Ensembl Gene ENSMUSG00000017697
Gene Name adenosine deaminase
Synonyms
MMRRC Submission 038347-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0053 (G1)
Quality Score 118
Status Validated
Chromosome 2
Chromosomal Location 163568504-163592159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163574212 bp (GRCm39)
Zygosity Heterozygous
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]
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 damaging
Transcript: ENSMUST00000017841
AA Change: V148D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: V148D

DomainStartEndE-ValueType
Pfam:A_deaminase 8 346 1.3e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156939
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.5%
Validation Efficiency 100% (67/67)
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]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpi T C 1: 87,026,512 (GRCm39) D493G probably benign Het
Atp10b A G 11: 43,107,391 (GRCm39) probably benign Het
AY761185 A T 8: 21,434,546 (GRCm39) probably benign Het
Cadm1 C T 9: 47,710,712 (GRCm39) T205I probably damaging Het
Capn3 A G 2: 120,322,318 (GRCm39) I413V possibly damaging Het
Cblb C T 16: 51,963,164 (GRCm39) T369I probably damaging Het
Ccdc54 T A 16: 50,410,597 (GRCm39) N223I probably benign Het
Cdc25c A G 18: 34,868,488 (GRCm39) V294A probably benign Het
Cep170 A T 1: 176,609,946 (GRCm39) S122T possibly damaging Het
Chd1 A G 17: 15,967,451 (GRCm39) N849D probably damaging Het
Cspg4b T C 13: 113,505,023 (GRCm39) W2051R probably benign Het
Dpp3 A G 19: 4,973,154 (GRCm39) C147R probably damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Fbxw9 T A 8: 85,791,083 (GRCm39) L250Q probably damaging Het
Gpr75 A T 11: 30,842,571 (GRCm39) Q492L possibly damaging Het
Gramd4 T A 15: 86,014,339 (GRCm39) probably benign Het
Hivep2 T C 10: 14,007,865 (GRCm39) C1488R probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Inava C T 1: 136,155,288 (GRCm39) V106I probably benign Het
Insr A G 8: 3,205,683 (GRCm39) S1369P probably damaging Het
Insrr A C 3: 87,707,759 (GRCm39) D67A probably damaging Het
Irf2 T A 8: 47,271,886 (GRCm39) Y158N probably benign Het
Katnbl1 A G 2: 112,234,586 (GRCm39) R23G probably benign Het
Lamb2 T A 9: 108,363,936 (GRCm39) C987* probably null Het
Lzts2 T C 19: 45,014,746 (GRCm39) probably benign Het
Mmp14 T A 14: 54,676,109 (GRCm39) probably benign Het
Mycbpap A G 11: 94,402,562 (GRCm39) Y258H probably damaging Het
Nav3 A G 10: 109,602,778 (GRCm39) probably benign Het
Or10j7 T C 1: 173,011,845 (GRCm39) D52G probably benign Het
Or4c100 T A 2: 88,356,507 (GRCm39) N193K probably damaging Het
Parp10 T A 15: 76,126,446 (GRCm39) L247F probably damaging Het
Pcsk6 C T 7: 65,633,451 (GRCm39) probably benign Het
Pgap3 A T 11: 98,281,924 (GRCm39) V129D probably benign Het
Pibf1 A G 14: 99,377,993 (GRCm39) Y373C probably damaging Het
Plcb1 A G 2: 135,136,835 (GRCm39) E310G probably benign Het
Plin3 T C 17: 56,586,892 (GRCm39) D385G probably damaging Het
Pole A T 5: 110,441,206 (GRCm39) D220V probably damaging Het
Ptprk T A 10: 28,351,105 (GRCm39) F533I probably damaging Het
Resf1 T A 6: 149,229,088 (GRCm39) D711E probably benign Het
Rufy1 A T 11: 50,292,292 (GRCm39) M499K probably benign Het
Scn1a T G 2: 66,130,119 (GRCm39) D1232A probably benign Het
Sec23ip T C 7: 128,346,891 (GRCm39) L49P probably damaging Het
Sf3b1 G A 1: 55,039,532 (GRCm39) Q698* probably null Het
Shprh A T 10: 11,070,116 (GRCm39) probably null Het
Snd1 C A 6: 28,745,334 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,644 (GRCm39) A2260T possibly damaging Het
Stpg2 A G 3: 138,918,082 (GRCm39) Q60R probably benign Het
Strn T C 17: 78,964,363 (GRCm39) H687R possibly damaging Het
Tgfb3 A T 12: 86,124,603 (GRCm39) I35N probably damaging Het
Tnks2 T C 19: 36,852,765 (GRCm39) S166P probably damaging Het
Tyw5 G A 1: 57,440,597 (GRCm39) T55M probably damaging Het
Usp19 A G 9: 108,374,369 (GRCm39) probably null Het
Zfp13 A T 17: 23,795,122 (GRCm39) I483N probably damaging Het
Other mutations in Ada
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Ada APN 2 163,572,236 (GRCm39) missense probably benign 0.02
IGL02414:Ada APN 2 163,571,960 (GRCm39) missense probably benign
IGL02973:Ada APN 2 163,573,053 (GRCm39) missense probably benign 0.01
R0076:Ada UTSW 2 163,569,523 (GRCm39) unclassified probably benign
R0305:Ada UTSW 2 163,570,077 (GRCm39) missense probably benign 0.00
R0463:Ada UTSW 2 163,572,271 (GRCm39) missense probably benign 0.00
R0464:Ada UTSW 2 163,574,884 (GRCm39) nonsense probably null
R0701:Ada UTSW 2 163,571,995 (GRCm39) missense probably benign 0.30
R1474:Ada UTSW 2 163,574,814 (GRCm39) missense possibly damaging 0.94
R4044:Ada UTSW 2 163,577,380 (GRCm39) missense probably damaging 0.96
R4589:Ada UTSW 2 163,574,868 (GRCm39) missense possibly damaging 0.94
R5114:Ada UTSW 2 163,572,406 (GRCm39) missense probably benign 0.15
R5424:Ada UTSW 2 163,570,045 (GRCm39) nonsense probably null
R5753:Ada UTSW 2 163,577,318 (GRCm39) missense probably benign 0.00
R6392:Ada UTSW 2 163,570,137 (GRCm39) missense probably damaging 1.00
R6501:Ada UTSW 2 163,570,108 (GRCm39) splice site probably null
R6646:Ada UTSW 2 163,577,343 (GRCm39) missense probably benign
R7651:Ada UTSW 2 163,574,275 (GRCm39) missense probably damaging 0.98
R7669:Ada UTSW 2 163,570,111 (GRCm39) nonsense probably null
R7803:Ada UTSW 2 163,577,288 (GRCm39) missense probably benign 0.00
R9093:Ada UTSW 2 163,577,308 (GRCm39) missense probably benign
R9469:Ada UTSW 2 163,574,192 (GRCm39) missense probably benign 0.03
R9655:Ada UTSW 2 163,574,270 (GRCm39) missense probably damaging 1.00
Z1088:Ada UTSW 2 163,570,036 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGCTGTCAAGTCCCAGATTTCCTG -3'
(R):5'- TTGAGGCTGTGTCTCTCCCCTAAG -3'

Sequencing Primer
(F):5'- GTCCCAGATTTCCTGTTAAGGAGAC -3'
(R):5'- TCAATGAATGAGTCTGGCCC -3'
Posted On 2013-08-06