Incidental Mutation 'R5479:Adad2'
ID 434218
Institutional Source Beutler Lab
Gene Symbol Adad2
Ensembl Gene ENSMUSG00000024266
Gene Name adenosine deaminase domain containing 2
Synonyms 4930403J07Rik
MMRRC Submission 043040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5479 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120339486-120343663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120341654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 185 (T185N)
Ref Sequence ENSEMBL: ENSMUSP00000095964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098361]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000098361
AA Change: T185N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095964
Gene: ENSMUSG00000024266
AA Change: T185N

DomainStartEndE-ValueType
DSRM 94 158 4e-7 SMART
ADEAMc 185 560 2.7e-37 SMART
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 G T 19: 55,268,894 (GRCm39) C185F probably damaging Het
Apbb1 A T 7: 105,214,232 (GRCm39) V315E probably damaging Het
Arfrp1 T C 2: 181,006,191 (GRCm39) T32A probably damaging Het
B020004C17Rik T C 14: 57,253,999 (GRCm39) S41P probably benign Het
Celsr3 T C 9: 108,721,743 (GRCm39) probably null Het
Chd8 C T 14: 52,452,652 (GRCm39) G1289D probably benign Het
Ctrl A G 8: 106,659,672 (GRCm39) F59S probably damaging Het
Cyp4v3 T A 8: 45,763,243 (GRCm39) D356V probably benign Het
Dgka T A 10: 128,565,541 (GRCm39) probably null Het
Dnah7b T C 1: 46,262,265 (GRCm39) Y2043H probably damaging Het
Eya3 A G 4: 132,400,244 (GRCm39) T88A possibly damaging Het
Fat1 A G 8: 45,489,912 (GRCm39) D3608G possibly damaging Het
Fmo1 T C 1: 162,677,793 (GRCm39) T108A probably damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Ftcd A T 10: 76,413,850 (GRCm39) M85L probably benign Het
Ggnbp2 T C 11: 84,745,169 (GRCm39) S189G probably benign Het
Gm3629 C T 14: 17,875,765 (GRCm39) R35H unknown Het
Gnai2 T G 9: 107,512,365 (GRCm39) M18L probably benign Het
Gpx5 T C 13: 21,476,805 (GRCm39) Y9C probably benign Het
Grik1 C A 16: 87,732,914 (GRCm39) A668S probably damaging Het
Hectd4 A T 5: 121,445,011 (GRCm39) M83L probably benign Het
Klra9 T C 6: 130,156,075 (GRCm39) R227G probably benign Het
Maz A T 7: 126,624,860 (GRCm39) V197D possibly damaging Het
Mbd5 T C 2: 49,162,917 (GRCm39) V241A probably damaging Het
Mdga2 C T 12: 66,701,950 (GRCm39) C417Y probably damaging Het
Mios C T 6: 8,215,314 (GRCm39) T170I probably benign Het
Myh13 G A 11: 67,239,648 (GRCm39) A733T probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfs1 G A 2: 155,970,422 (GRCm39) T297I probably damaging Het
Nrbf2 A G 10: 67,120,870 (GRCm39) probably null Het
Nrg1 T C 8: 32,308,405 (GRCm39) Y537C probably damaging Het
Onecut3 T A 10: 80,349,856 (GRCm39) L450Q probably damaging Het
Or4p8 T C 2: 88,727,035 (GRCm39) D302G probably benign Het
Pard3 G A 8: 128,096,836 (GRCm39) R333Q probably damaging Het
Parp4 T C 14: 56,861,552 (GRCm39) F962L probably benign Het
Pilra A G 5: 137,834,318 (GRCm39) S22P possibly damaging Het
Piwil4 T C 9: 14,616,337 (GRCm39) Y673C probably damaging Het
Plxna2 G A 1: 194,476,181 (GRCm39) D1134N probably benign Het
Pnpla7 T C 2: 24,909,453 (GRCm39) V681A possibly damaging Het
Ppfibp1 T A 6: 146,931,648 (GRCm39) probably null Het
Ptprz1 C T 6: 23,001,665 (GRCm39) L1252F probably benign Het
Sptb T C 12: 76,646,625 (GRCm39) E1999G probably benign Het
Stat3 T C 11: 100,780,714 (GRCm39) probably benign Het
Usp25 T C 16: 76,904,801 (GRCm39) V789A possibly damaging Het
Zfp148 C A 16: 33,317,589 (GRCm39) Q712K probably damaging Het
Other mutations in Adad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Adad2 APN 8 120,343,408 (GRCm39) missense probably damaging 1.00
IGL02385:Adad2 APN 8 120,341,773 (GRCm39) splice site probably benign
R0619:Adad2 UTSW 8 120,339,739 (GRCm39) missense probably benign 0.01
R3410:Adad2 UTSW 8 120,342,708 (GRCm39) missense probably benign
R4961:Adad2 UTSW 8 120,342,397 (GRCm39) missense probably damaging 0.99
R5521:Adad2 UTSW 8 120,339,528 (GRCm39) missense probably benign 0.43
R5610:Adad2 UTSW 8 120,341,500 (GRCm39) missense probably benign 0.00
R5624:Adad2 UTSW 8 120,341,844 (GRCm39) splice site probably null
R6237:Adad2 UTSW 8 120,342,502 (GRCm39) missense probably damaging 1.00
R6566:Adad2 UTSW 8 120,340,971 (GRCm39) missense probably benign 0.13
R8069:Adad2 UTSW 8 120,342,746 (GRCm39) missense probably benign 0.00
R8906:Adad2 UTSW 8 120,339,725 (GRCm39) missense probably benign 0.03
R8934:Adad2 UTSW 8 120,341,535 (GRCm39) splice site probably benign
R9311:Adad2 UTSW 8 120,341,986 (GRCm39) missense probably damaging 1.00
R9317:Adad2 UTSW 8 120,342,180 (GRCm39) missense probably damaging 1.00
R9340:Adad2 UTSW 8 120,339,769 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCTGTCTGGAAGGTGGAG -3'
(R):5'- TTGGACCTCTGTGCAGGAAG -3'

Sequencing Primer
(F):5'- GTCTCTTGCAGAGCCCCTG -3'
(R):5'- CTCTGTGCAGGAAGGGACG -3'
Posted On 2016-10-06