Incidental Mutation 'R0020:Atf2'
ID 64729
Institutional Source Beutler Lab
Gene Symbol Atf2
Ensembl Gene ENSMUSG00000027104
Gene Name activating transcription factor 2
Synonyms mXBP, ATF-2, CRE-BP, D130078H02Rik, Creb2
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R0020 (G1)
Quality Score 91
Status Validated
Chromosome 2
Chromosomal Location 73646853-73722983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73676628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 122 (D122G)
Ref Sequence ENSEMBL: ENSMUSP00000107641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055833] [ENSMUST00000090802] [ENSMUST00000100009] [ENSMUST00000112007] [ENSMUST00000112010] [ENSMUST00000112016] [ENSMUST00000173010] [ENSMUST00000112017] [ENSMUST00000154456] [ENSMUST00000128531] [ENSMUST00000136958]
AlphaFold P16951
Predicted Effect probably benign
Transcript: ENSMUST00000055833
AA Change: D162G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: D162G

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 237 254 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
BRLZ 332 396 3.15e-21 SMART
low complexity region 437 449 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090802
AA Change: D122G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104
AA Change: D122G

DomainStartEndE-ValueType
low complexity region 197 214 N/A INTRINSIC
low complexity region 260 276 N/A INTRINSIC
BRLZ 292 356 3.15e-21 SMART
low complexity region 397 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100009
AA Change: D162G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: D162G

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 237 254 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
BRLZ 332 396 3.15e-21 SMART
low complexity region 437 449 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112007
AA Change: D122G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104
AA Change: D122G

DomainStartEndE-ValueType
low complexity region 197 214 N/A INTRINSIC
low complexity region 260 276 N/A INTRINSIC
BRLZ 292 356 3.15e-21 SMART
low complexity region 397 409 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112010
AA Change: D122G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104
AA Change: D122G

DomainStartEndE-ValueType
low complexity region 197 214 N/A INTRINSIC
low complexity region 260 276 N/A INTRINSIC
BRLZ 292 356 3.15e-21 SMART
low complexity region 397 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112016
SMART Domains Protein: ENSMUSP00000107647
Gene: ENSMUSG00000027104

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 139 156 N/A INTRINSIC
low complexity region 202 218 N/A INTRINSIC
BRLZ 234 298 3.15e-21 SMART
low complexity region 339 351 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173010
AA Change: D162G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
AA Change: D162G

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 237 254 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
BRLZ 332 377 1.32e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112017
AA Change: D162G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: D162G

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 237 254 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
BRLZ 332 396 3.15e-21 SMART
low complexity region 437 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154456
AA Change: D79G

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000128531
AA Change: D162G

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118560
Gene: ENSMUSG00000027104
AA Change: D162G

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143714
Predicted Effect probably benign
Transcript: ENSMUST00000136958
SMART Domains Protein: ENSMUSP00000118357
Gene: ENSMUSG00000027104

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
low complexity region 139 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124737
SMART Domains Protein: ENSMUSP00000114828
Gene: ENSMUSG00000027104

DomainStartEndE-ValueType
low complexity region 31 48 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
BRLZ 126 190 3.89e-12 SMART
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.4%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in increased postnatal lethality, skeletal development defects, runting, decreased hearing, inner ear and brain abnormalities, hyperactivity, and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado T C 10: 67,383,927 (GRCm39) D226G probably benign Het
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Cd2bp2 G A 7: 126,792,996 (GRCm39) T342M probably damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
D130043K22Rik T A 13: 25,038,475 (GRCm39) probably benign Het
Dbh A G 2: 27,060,584 (GRCm39) probably benign Het
Dhdh T C 7: 45,137,528 (GRCm39) K53R probably benign Het
Drc3 A G 11: 60,261,371 (GRCm39) Y174C probably damaging Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbn2 G T 18: 58,238,236 (GRCm39) T587K probably damaging Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Glyr1 A G 16: 4,854,913 (GRCm39) I55T probably damaging Het
Gm12695 G C 4: 96,657,972 (GRCm39) P66A probably damaging Het
Gon4l G T 3: 88,766,244 (GRCm39) V428L probably damaging Het
Ighv6-5 T C 12: 114,380,241 (GRCm39) D92G probably null Het
Inhba A C 13: 16,200,949 (GRCm39) K170N possibly damaging Het
Kng2 A G 16: 22,816,046 (GRCm39) V317A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Map3k14 T C 11: 103,118,500 (GRCm39) E562G probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Nlrp4a A T 7: 26,149,797 (GRCm39) H468L probably damaging Het
Nphs1 G T 7: 30,162,633 (GRCm39) V357L probably benign Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Pclo A G 5: 14,719,687 (GRCm39) T1275A unknown Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pot1b T A 17: 55,960,429 (GRCm39) M634L probably benign Het
Ppp2r5c C T 12: 110,541,257 (GRCm39) Q469* probably null Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prss43 C A 9: 110,657,580 (GRCm39) probably benign Het
Rb1cc1 C A 1: 6,334,772 (GRCm39) N1444K possibly damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slamf9 T C 1: 172,303,082 (GRCm39) S7P possibly damaging Het
Slc35b2 T A 17: 45,877,782 (GRCm39) M303K probably damaging Het
Slc4a7 T A 14: 14,796,108 (GRCm38) F1116I probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Smarcad1 T A 6: 65,060,991 (GRCm39) probably benign Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Tns3 A C 11: 8,495,227 (GRCm39) probably null Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Atf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Atf2 APN 2 73,675,847 (GRCm39) missense possibly damaging 0.85
IGL01608:Atf2 APN 2 73,649,422 (GRCm39) missense probably damaging 1.00
IGL02112:Atf2 APN 2 73,649,381 (GRCm39) missense probably damaging 1.00
IGL02469:Atf2 APN 2 73,676,676 (GRCm39) missense probably damaging 0.99
IGL02686:Atf2 APN 2 73,675,844 (GRCm39) missense possibly damaging 0.90
IGL03381:Atf2 APN 2 73,659,012 (GRCm39) missense probably benign 0.13
R0020:Atf2 UTSW 2 73,676,628 (GRCm39) missense possibly damaging 0.81
R0045:Atf2 UTSW 2 73,660,200 (GRCm39) missense probably benign 0.02
R0045:Atf2 UTSW 2 73,660,200 (GRCm39) missense probably benign 0.02
R0480:Atf2 UTSW 2 73,649,500 (GRCm39) splice site probably benign
R0732:Atf2 UTSW 2 73,675,844 (GRCm39) missense possibly damaging 0.90
R1188:Atf2 UTSW 2 73,675,881 (GRCm39) missense probably damaging 0.96
R1285:Atf2 UTSW 2 73,675,853 (GRCm39) missense probably damaging 1.00
R1287:Atf2 UTSW 2 73,675,853 (GRCm39) missense probably damaging 1.00
R1523:Atf2 UTSW 2 73,693,552 (GRCm39) missense probably damaging 1.00
R1622:Atf2 UTSW 2 73,684,133 (GRCm39) splice site probably null
R1731:Atf2 UTSW 2 73,675,853 (GRCm39) missense probably damaging 1.00
R1935:Atf2 UTSW 2 73,676,563 (GRCm39) missense probably damaging 1.00
R1939:Atf2 UTSW 2 73,676,563 (GRCm39) missense probably damaging 1.00
R1965:Atf2 UTSW 2 73,681,242 (GRCm39) missense possibly damaging 0.87
R2000:Atf2 UTSW 2 73,693,584 (GRCm39) critical splice acceptor site probably null
R2045:Atf2 UTSW 2 73,693,552 (GRCm39) missense probably damaging 1.00
R2256:Atf2 UTSW 2 73,675,855 (GRCm39) splice site probably null
R3147:Atf2 UTSW 2 73,681,283 (GRCm39) splice site probably null
R3890:Atf2 UTSW 2 73,693,557 (GRCm39) missense probably damaging 1.00
R4680:Atf2 UTSW 2 73,659,025 (GRCm39) splice site probably null
R4715:Atf2 UTSW 2 73,653,644 (GRCm39) missense probably damaging 1.00
R5161:Atf2 UTSW 2 73,660,134 (GRCm39) critical splice donor site probably null
R5853:Atf2 UTSW 2 73,658,813 (GRCm39) splice site probably null
R7419:Atf2 UTSW 2 73,672,777 (GRCm39) missense probably benign 0.01
R7833:Atf2 UTSW 2 73,684,229 (GRCm39) missense possibly damaging 0.94
R9202:Atf2 UTSW 2 73,649,472 (GRCm39) missense probably damaging 0.99
R9266:Atf2 UTSW 2 73,649,271 (GRCm39) missense probably benign 0.27
R9690:Atf2 UTSW 2 73,675,813 (GRCm39) missense probably benign 0.26
X0033:Atf2 UTSW 2 73,676,625 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- CCCAAGACAGACAGATCTCTTTCTCCT -3'
(R):5'- CATTGCCAAGTAGCCCAGCCTAATTTA -3'

Sequencing Primer
(F):5'- Gcacacacacacacacacac -3'
(R):5'- GTGGTTGCTTTCATAAATGTGTTAC -3'
Posted On 2013-08-06