Incidental Mutation 'R4589:Ada'
ID 342657
Institutional Source Beutler Lab
Gene Symbol Ada
Ensembl Gene ENSMUSG00000017697
Gene Name adenosine deaminase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4589 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 163568504-163592159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163574868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 90 (K90E)
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 possibly damaging
Transcript: ENSMUST00000017841
AA Change: K90E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: K90E

DomainStartEndE-ValueType
Pfam:A_deaminase 8 346 1.3e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156939
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,211,895 (GRCm39) V157L probably benign Het
Actn1 G A 12: 80,218,573 (GRCm39) T737I possibly damaging Het
Ap2b1 T A 11: 83,223,837 (GRCm39) L184* probably null Het
Arfgef3 T C 10: 18,521,947 (GRCm39) D693G probably damaging Het
Arid4a A T 12: 71,116,738 (GRCm39) I277F probably damaging Het
Armh4 A G 14: 50,011,039 (GRCm39) S223P probably damaging Het
Ccdc171 A G 4: 83,467,855 (GRCm39) S67G probably benign Het
Ccr5 T A 9: 123,924,539 (GRCm39) F47L probably benign Het
Clip4 T A 17: 72,117,862 (GRCm39) C302* probably null Het
Cyth1 C T 11: 118,075,811 (GRCm39) V142I possibly damaging Het
Ddx59 T A 1: 136,367,480 (GRCm39) probably null Het
Def6 G T 17: 28,447,121 (GRCm39) R584L probably benign Het
Dnah7c C A 1: 46,553,743 (GRCm39) Y340* probably null Het
Eif2ak4 T G 2: 118,247,819 (GRCm39) C173W probably damaging Het
Gm14403 C T 2: 177,200,428 (GRCm39) H125Y probably benign Het
Grk3 T C 5: 113,089,584 (GRCm39) I323V possibly damaging Het
Homez G T 14: 55,094,487 (GRCm39) T407K probably damaging Het
Igdcc4 A G 9: 65,037,910 (GRCm39) T763A probably damaging Het
Ighg2b A T 12: 113,270,104 (GRCm39) W305R unknown Het
Il27ra G T 8: 84,763,038 (GRCm39) N296K probably damaging Het
Lzic G T 4: 149,572,561 (GRCm39) L50F probably damaging Het
Mbtd1 T C 11: 93,812,245 (GRCm39) V183A probably damaging Het
Mme T A 3: 63,287,693 (GRCm39) D731E probably benign Het
Mocos T C 18: 24,787,095 (GRCm39) L38P probably damaging Het
Mrps18a T C 17: 46,428,899 (GRCm39) probably null Het
Msh2 T A 17: 87,987,460 (GRCm39) V200D possibly damaging Het
Mug1 A T 6: 121,834,310 (GRCm39) I364F probably benign Het
Mycbp2 G T 14: 103,414,749 (GRCm39) S2554R probably benign Het
Nat10 A G 2: 103,584,415 (GRCm39) C121R probably damaging Het
Nfatc3 T A 8: 106,805,705 (GRCm39) D183E probably damaging Het
Odr4 C T 1: 150,260,238 (GRCm39) V127I probably benign Het
Or4d10c T C 19: 12,065,305 (GRCm39) I284V possibly damaging Het
Or51ac3 A T 7: 103,213,639 (GRCm39) F282L probably damaging Het
Or52h1 C A 7: 103,828,636 (GRCm39) probably null Het
Or5d14 T C 2: 87,880,823 (GRCm39) I48M probably benign Het
Pak6 T A 2: 118,527,021 (GRCm39) I672K probably damaging Het
Pan3 A T 5: 147,479,983 (GRCm39) I830F probably damaging Het
Pcdh9 A T 14: 94,125,628 (GRCm39) L181I probably damaging Het
Pigg G A 5: 108,480,556 (GRCm39) A447T probably benign Het
Pitpnb T A 5: 111,519,214 (GRCm39) S165T probably damaging Het
Pla2g2a A G 4: 138,560,590 (GRCm39) Y67C probably damaging Het
Plch1 A G 3: 63,688,928 (GRCm39) I80T probably damaging Het
Pnma1 A G 12: 84,194,235 (GRCm39) I156T probably benign Het
Prss21 G T 17: 24,091,796 (GRCm39) D255Y possibly damaging Het
Prune1 T A 3: 95,169,642 (GRCm39) I187F possibly damaging Het
Rab7b T C 1: 131,633,385 (GRCm39) F78L probably benign Het
Riok3 T A 18: 12,269,844 (GRCm39) Y92N probably benign Het
Rpap2 T C 5: 107,768,361 (GRCm39) S400P probably benign Het
Ryr3 C A 2: 112,705,478 (GRCm39) G792V probably damaging Het
Septin3 A G 15: 82,170,092 (GRCm39) E206G probably damaging Het
Stkld1 T C 2: 26,840,679 (GRCm39) S454P probably damaging Het
Tdh A T 14: 63,733,326 (GRCm39) L140Q probably damaging Het
Tex15 T A 8: 34,047,401 (GRCm39) H159Q probably damaging Het
Tmed6 C T 8: 107,790,793 (GRCm39) V85I probably benign Het
Vmn1r174 T A 7: 23,454,204 (GRCm39) L290* probably null Het
Vmn1r31 A G 6: 58,449,596 (GRCm39) S90P probably damaging Het
Vmn2r55 T C 7: 12,404,822 (GRCm39) T194A probably damaging Het
Vmn2r82 A T 10: 79,192,548 (GRCm39) I42F probably damaging Het
Vps35 G A 8: 86,014,331 (GRCm39) P106L probably damaging Het
Xrcc6 T A 15: 81,906,661 (GRCm39) Y69N probably damaging Het
Zbtb14 C T 17: 69,695,465 (GRCm39) P388S probably damaging Het
Zfp541 C T 7: 15,817,261 (GRCm39) A902V probably benign 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
R0053:Ada UTSW 2 163,574,212 (GRCm39) missense probably damaging 0.99
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
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'- TGAGTCGCTCTGAGTCCATG -3'
(R):5'- TAGTTCAAACGTACAGCTTCCC -3'

Sequencing Primer
(F):5'- TCTGAGTCCATGGACCAGG -3'
(R):5'- AAACGTACAGCTTCCCGGGAG -3'
Posted On 2015-09-24