Incidental Mutation 'R1615:Tada2a'
ID 177065
Institutional Source Beutler Lab
Gene Symbol Tada2a
Ensembl Gene ENSMUSG00000018651
Gene Name transcriptional adaptor 2A
Synonyms D030022J10Rik, Tada2l
MMRRC Submission 039652-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # R1615 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83969746-84020426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83993926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000018795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018795]
AlphaFold Q8CHV6
PDB Structure Structural and functional analysis of ada2 alpha swirm domain [SOLUTION NMR]
Structural and functional analysis of ADA2 alpha swirm domain [SOLUTION NMR]
Solution structure of SWIRM domain of mouse transcriptional adaptor 2-like [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000018795
AA Change: D186G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018795
Gene: ENSMUSG00000018651
AA Change: D186G

DomainStartEndE-ValueType
Blast:ZnF_ZZ 11 57 2e-25 BLAST
SANT 71 120 3.1e-10 SMART
low complexity region 134 143 N/A INTRINSIC
Pfam:SWIRM 364 441 5.3e-11 PFAM
Meta Mutation Damage Score 0.2487 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Grm1 G T 10: 10,617,252 (GRCm39) Y510* probably null Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Prkag2 G T 5: 25,080,176 (GRCm39) N120K possibly damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Scrib T C 15: 75,938,054 (GRCm39) Q264R probably benign Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Shf T C 2: 122,179,913 (GRCm39) H421R probably damaging Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C probably damaging Het
Other mutations in Tada2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03256:Tada2a APN 11 83,978,018 (GRCm39) splice site probably benign
PIT4131001:Tada2a UTSW 11 83,970,563 (GRCm39) missense probably damaging 0.98
R1438:Tada2a UTSW 11 84,000,837 (GRCm39) missense probably damaging 0.99
R1688:Tada2a UTSW 11 83,975,585 (GRCm39) critical splice acceptor site probably null
R1693:Tada2a UTSW 11 83,972,895 (GRCm39) missense probably damaging 1.00
R2146:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R2147:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R2150:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R3980:Tada2a UTSW 11 83,993,946 (GRCm39) missense probably benign 0.41
R5364:Tada2a UTSW 11 84,011,973 (GRCm39) missense probably benign
R5686:Tada2a UTSW 11 83,970,428 (GRCm39) missense possibly damaging 0.59
R7117:Tada2a UTSW 11 83,976,514 (GRCm39) missense probably damaging 0.99
R7439:Tada2a UTSW 11 84,017,812 (GRCm39) critical splice donor site probably null
Z1177:Tada2a UTSW 11 83,984,493 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- AGCTTGGCAAGAAGGTACATTCAGC -3'
(R):5'- TGTGAGTGCATAGCCACCCCATAG -3'

Sequencing Primer
(F):5'- tgtagtgcctgaatccaacc -3'
(R):5'- ACAATAGGCTGGGCTTCACTC -3'
Posted On 2014-04-24