Incidental Mutation 'R0305:Ada'
ID 24883
Institutional Source Beutler Lab
Gene Symbol Ada
Ensembl Gene ENSMUSG00000017697
Gene Name adenosine deaminase
Synonyms
MMRRC Submission 038516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0305 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 163568504-163592159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163570077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 312 (K312R)
Ref Sequence ENSEMBL: ENSMUSP00000017841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017841] [ENSMUST00000064703] [ENSMUST00000099105] [ENSMUST00000109400] [ENSMUST00000126182] [ENSMUST00000131228] [ENSMUST00000135537] [ENSMUST00000164399]
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: K312R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: K312R

DomainStartEndE-ValueType
Pfam:A_deaminase 8 346 1.3e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064703
SMART Domains Protein: ENSMUSP00000068344
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 70 5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099105
SMART Domains Protein: ENSMUSP00000096704
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109400
SMART Domains Protein: ENSMUSP00000105027
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126182
SMART Domains Protein: ENSMUSP00000120145
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131228
SMART Domains Protein: ENSMUSP00000120355
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 70 4.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135537
SMART Domains Protein: ENSMUSP00000114291
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 56 7.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156939
Predicted Effect probably benign
Transcript: ENSMUST00000164399
SMART Domains Protein: ENSMUSP00000126223
Gene: ENSMUSG00000035268

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.3e-33 PFAM
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,061 (GRCm39) R183Q probably damaging Het
Abca5 A G 11: 110,164,137 (GRCm39) probably benign Het
Adam21 C A 12: 81,607,059 (GRCm39) K234N possibly damaging Het
Afdn T A 17: 14,108,776 (GRCm39) probably null Het
Aimp1 T G 3: 132,379,747 (GRCm39) K132Q possibly damaging Het
Aldh16a1 C T 7: 44,797,403 (GRCm39) R135Q probably damaging Het
Alox12b A T 11: 69,058,205 (GRCm39) Y519F probably benign Het
Alppl2 T C 1: 87,017,324 (GRCm39) E25G probably benign Het
Apob A T 12: 8,062,210 (GRCm39) N3531I probably damaging Het
Arhgap23 T C 11: 97,391,935 (GRCm39) L321P probably damaging Het
Cab39l C T 14: 59,757,028 (GRCm39) Q137* probably null Het
Cenpo A T 12: 4,266,660 (GRCm39) H149Q possibly damaging Het
Cpt1a A G 19: 3,428,455 (GRCm39) T610A probably benign Het
Dcbld2 A G 16: 58,269,302 (GRCm39) T271A probably damaging Het
Dcps A G 9: 35,087,065 (GRCm39) probably null Het
Dnai2 A G 11: 114,643,720 (GRCm39) D462G probably benign Het
Dsg2 T A 18: 20,715,752 (GRCm39) probably benign Het
Eomes A T 9: 118,313,825 (GRCm39) E623D probably benign Het
Fras1 A T 5: 96,744,747 (GRCm39) H594L probably benign Het
Gad1-ps T G 10: 99,280,665 (GRCm39) noncoding transcript Het
Galk2 A G 2: 125,729,808 (GRCm39) Y63C probably damaging Het
H2-T10 A G 17: 36,430,260 (GRCm39) L227P probably damaging Het
Itgb4 T G 11: 115,870,238 (GRCm39) C73G probably damaging Het
Itpr2 T C 6: 146,212,601 (GRCm39) H1472R possibly damaging Het
Kcnh5 C T 12: 75,161,171 (GRCm39) A246T probably benign Het
Kpna6 G T 4: 129,543,042 (GRCm39) R458S probably benign Het
Lifr A G 15: 7,206,982 (GRCm39) T498A probably damaging Het
Lrrd1 T G 5: 3,915,707 (GRCm39) I768S probably damaging Het
Map2 T C 1: 66,452,253 (GRCm39) V223A probably benign Het
Nod2 G A 8: 89,391,951 (GRCm39) A731T probably damaging Het
Nrxn2 G A 19: 6,569,313 (GRCm39) C1403Y probably damaging Het
Nxph1 A T 6: 9,247,754 (GRCm39) I242F probably damaging Het
Or5p79 G A 7: 108,221,792 (GRCm39) V258I probably benign Het
Pgr A G 9: 8,902,088 (GRCm39) probably benign Het
Pik3cb A G 9: 98,946,129 (GRCm39) S566P possibly damaging Het
Sema4d T C 13: 51,866,764 (GRCm39) Y242C probably damaging Het
Sftpc T A 14: 70,761,518 (GRCm39) probably benign Het
Sh3tc1 T G 5: 35,881,343 (GRCm39) E33D probably benign Het
Slc17a5 A G 9: 78,464,819 (GRCm39) L344P probably benign Het
Slc39a5 T A 10: 128,234,265 (GRCm39) probably benign Het
Slc7a13 C A 4: 19,839,401 (GRCm39) H335N probably benign Het
Slco1a4 A C 6: 141,763,479 (GRCm39) N412K possibly damaging Het
Sox1 A T 8: 12,446,736 (GRCm39) T126S probably damaging Het
Specc1l T A 10: 75,081,663 (GRCm39) V353E probably damaging Het
Stat5b T C 11: 100,693,329 (GRCm39) E104G probably benign Het
Sult4a1 A G 15: 83,970,868 (GRCm39) V179A probably damaging Het
Tafa5 T A 15: 87,604,709 (GRCm39) I83N probably damaging Het
Tbl3 G A 17: 24,924,435 (GRCm39) R134C probably damaging Het
Tmem256 T A 11: 69,729,737 (GRCm39) probably benign Het
Tmigd1 A G 11: 76,797,960 (GRCm39) T101A probably damaging Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Unc79 T A 12: 103,079,459 (GRCm39) S1679T probably benign Het
Vmn2r1 T G 3: 63,997,087 (GRCm39) C248G probably damaging Het
Vmn2r57 T C 7: 41,076,967 (GRCm39) I400V probably benign Het
Vwa8 T A 14: 79,246,713 (GRCm39) L685H probably damaging Het
Yeats4 A G 10: 117,051,741 (GRCm39) F172S probably damaging Het
Zfpm2 T G 15: 40,637,431 (GRCm39) 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
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'- CATGCTACTGCCAAGGCATCTCTG -3'
(R):5'- GTAGCTTAAGGCTGTCACCGTCTC -3'

Sequencing Primer
(F):5'- TCCAGAGGTTCTAGGCAATCTAC -3'
(R):5'- AGAATGCAACCCTTTGTGTTGTC -3'
Posted On 2013-04-16