Incidental Mutation 'R0463:Ada'
ID 41457
Institutional Source Beutler Lab
Gene Symbol Ada
Ensembl Gene ENSMUSG00000017697
Gene Name adenosine deaminase
Synonyms
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0463 (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 A at 163572271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 243 (I243F)
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: I243F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017841
Gene: ENSMUSG00000017697
AA Change: I243F

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 noncoding transcript
Transcript: ENSMUST00000156939
Predicted Effect probably benign
Transcript: ENSMUST00000135537
SMART Domains Protein: ENSMUSP00000114291
Gene: ENSMUSG00000035268

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

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.3e-33 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Il5ra A T 6: 106,708,851 (GRCm39) D296E probably damaging Het
Itk A T 11: 46,222,816 (GRCm39) V551E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Magel2 T A 7: 62,027,778 (GRCm39) H227Q possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Nav1 C A 1: 135,379,945 (GRCm39) V1586F possibly damaging Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Patj G A 4: 98,562,545 (GRCm39) E1505K probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A 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
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
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'- AGTGCTTCATTGCCTCAAGCCC -3'
(R):5'- AGACCCCTAAATGTGGCAGAGACAG -3'

Sequencing Primer
(F):5'- TCAAGCCCCACGAAACCTC -3'
(R):5'- cagagccacgcccaaac -3'
Posted On 2013-05-23