Incidental Mutation 'R5424:Ada'
ID 426742
Institutional Source Beutler Lab
Gene Symbol Ada
Ensembl Gene ENSMUSG00000017697
Gene Name adenosine deaminase
Synonyms
MMRRC Submission 042990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5424 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 163568504-163592159 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 163570045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 323 (K323*)
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 null
Transcript: ENSMUST00000017841
AA Change: K323*
SMART Domains Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: K323*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,678 (GRCm39) A300D probably damaging Het
Abca14 T C 7: 119,810,777 (GRCm39) Y119H probably benign Het
Actb A G 5: 142,891,306 (GRCm39) probably benign Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Aire A T 10: 77,872,553 (GRCm39) V355E probably damaging Het
Atp8a1 T C 5: 67,969,443 (GRCm39) I117M probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Clca3a2 A G 3: 144,789,942 (GRCm39) F465L probably damaging Het
Cpne8 T A 15: 90,400,260 (GRCm39) M345L probably benign Het
Ddx54 T C 5: 120,757,926 (GRCm39) probably null Het
Dnah14 T G 1: 181,590,875 (GRCm39) M3256R possibly damaging Het
Epha2 T A 4: 141,046,251 (GRCm39) Y483* probably null Het
Ermard T A 17: 15,280,032 (GRCm39) S509T possibly damaging Het
Fam186a G T 15: 99,843,644 (GRCm39) H867N unknown Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gas8 C A 8: 124,253,251 (GRCm39) L200I possibly damaging Het
Gfra2 A T 14: 71,133,287 (GRCm39) D39V probably damaging Het
Gm10770 T C 2: 150,020,948 (GRCm39) T190A probably benign Het
Gm2617 T C 19: 9,301,320 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,805,017 (GRCm39) probably benign Het
Gmppb T A 9: 107,929,204 (GRCm39) probably null Het
Ifit2 T A 19: 34,551,458 (GRCm39) C333S probably benign Het
Ighg2b T C 12: 113,271,550 (GRCm39) K1R unknown Het
Impdh2-ps G T 8: 100,758,141 (GRCm39) noncoding transcript Het
Kdelr2 A C 5: 143,403,899 (GRCm39) E96A probably benign Het
Lama2 G A 10: 26,860,392 (GRCm39) R3032C probably damaging Het
Lipg T A 18: 75,087,324 (GRCm39) I166F probably damaging Het
Lrrc8b T C 5: 105,628,569 (GRCm39) V305A probably damaging Het
Marveld2 T C 13: 100,748,695 (GRCm39) H128R probably benign Het
Mgat4a A G 1: 37,505,636 (GRCm39) V189A probably benign Het
Mroh2b A T 15: 4,971,094 (GRCm39) E1033V probably damaging Het
Mtmr7 A G 8: 41,059,873 (GRCm39) V80A probably benign Het
Ndrg2 A G 14: 52,146,342 (GRCm39) S153P probably damaging Het
Nelfa C T 5: 34,079,189 (GRCm39) probably null Het
Nes G T 3: 87,886,131 (GRCm39) E1419D possibly damaging Het
Nipa1 C A 7: 55,629,223 (GRCm39) V297L possibly damaging Het
Obox5 T A 7: 15,492,807 (GRCm39) I254K probably benign Het
Or56b35 T C 7: 104,963,778 (GRCm39) V189A possibly damaging Het
Or8k24 G A 2: 86,216,184 (GRCm39) Q193* probably null Het
Pcdhga7 G A 18: 37,848,388 (GRCm39) A132T probably benign Het
Pla1a T A 16: 38,235,137 (GRCm39) I186F probably damaging Het
Plscr4 T A 9: 92,372,075 (GRCm39) M282K possibly damaging Het
Rpl22l1 T C 3: 28,861,047 (GRCm39) probably benign Het
Scn5a T C 9: 119,330,800 (GRCm39) D1246G probably damaging Het
Senp7 A G 16: 56,006,471 (GRCm39) S932G possibly damaging Het
Slc51a C A 16: 32,297,565 (GRCm39) A111S probably benign Het
Srcin1 T A 11: 97,427,885 (GRCm39) K236* probably null Het
Tbxas1 A G 6: 39,004,839 (GRCm39) D362G possibly damaging Het
Tcl1b5 T C 12: 105,146,275 (GRCm39) I116T possibly damaging Het
Tgm7 T A 2: 120,929,522 (GRCm39) M251L probably damaging Het
Tnn T A 1: 159,950,272 (GRCm39) Q778L possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp622 T C 15: 25,984,855 (GRCm39) C74R probably damaging Het
Zfp646 C A 7: 127,481,875 (GRCm39) H1351N possibly 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
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
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
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'- AAGGCATCTCTGTGGAAGGC -3'
(R):5'- TCTTGGAGTGAAGAGGCTCTCTC -3'

Sequencing Primer
(F):5'- AGCTTGGCATGTCAGGC -3'
(R):5'- GAGGCTCTCTCTCTCTCTCTTTTC -3'
Posted On 2016-09-01