Incidental Mutation 'R2150:Tada2a'
ID 234214
Institutional Source Beutler Lab
Gene Symbol Tada2a
Ensembl Gene ENSMUSG00000018651
Gene Name transcriptional adaptor 2A
Synonyms D030022J10Rik, Tada2l
MMRRC Submission 040153-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # R2150 (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 83970455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 432 (D432G)
Ref Sequence ENSEMBL: ENSMUSP00000018795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018795] [ENSMUST00000141852]
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: D432G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018795
Gene: ENSMUSG00000018651
AA Change: D432G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125566
Predicted Effect probably benign
Transcript: ENSMUST00000141852
SMART Domains Protein: ENSMUSP00000119022
Gene: ENSMUSG00000018651

DomainStartEndE-ValueType
Pfam:SWIRM 168 235 2.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156151
Meta Mutation Damage Score 0.6381 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign 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
R1615:Tada2a UTSW 11 83,993,926 (GRCm39) missense probably damaging 1.00
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
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'- ACACTCTGACGCACTATCCTG -3'
(R):5'- ACCTGCTGGATGAATTTGTGAG -3'

Sequencing Primer
(F):5'- GCAGCGCTTTACAGAGGG -3'
(R):5'- TGTGAGAATGACAGTGCTAATTACG -3'
Posted On 2014-10-01