Incidental Mutation 'R1935:Atf2'
ID 215871
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 039953-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R1935 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 73646853-73722983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73676563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 184 (P184S)
Ref Sequence ENSEMBL: ENSMUSP00000133632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055833] [ENSMUST00000090802] [ENSMUST00000100009] [ENSMUST00000112007] [ENSMUST00000112010] [ENSMUST00000112016] [ENSMUST00000112017] [ENSMUST00000128531] [ENSMUST00000154456] [ENSMUST00000173010] [ENSMUST00000136958]
AlphaFold P16951
Predicted Effect probably benign
Transcript: ENSMUST00000055833
AA Change: P184S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: P184S

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 damaging
Transcript: ENSMUST00000090802
AA Change: P144S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104
AA Change: P144S

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: P184S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: P184S

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 damaging
Transcript: ENSMUST00000112007
AA Change: P144S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104
AA Change: P144S

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 damaging
Transcript: ENSMUST00000112010
AA Change: P144S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104
AA Change: P144S

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 noncoding transcript
Transcript: ENSMUST00000129555
Predicted Effect probably benign
Transcript: ENSMUST00000112017
AA Change: P184S

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: P184S

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 damaging
Transcript: ENSMUST00000128531
AA Change: P184S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118560
Gene: ENSMUSG00000027104
AA Change: P184S

DomainStartEndE-ValueType
ZnF_C2H2 7 31 4.4e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143714
Predicted Effect probably damaging
Transcript: ENSMUST00000154456
AA Change: P101S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156455
Predicted Effect probably damaging
Transcript: ENSMUST00000173010
AA Change: P184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
AA Change: P184S

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 noncoding transcript
Transcript: ENSMUST00000141050
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 0.1195 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 95% (95/100)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Abcg8 C T 17: 85,002,417 (GRCm39) probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atg2a A G 19: 6,302,566 (GRCm39) Y963C probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atrn T C 2: 130,799,955 (GRCm39) V444A probably damaging Het
Avpr1a G A 10: 122,285,695 (GRCm39) probably null Het
Best3 A C 10: 116,860,291 (GRCm39) Q517P probably benign Het
C3 A G 17: 57,525,829 (GRCm39) L851P probably damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Carns1 T C 19: 4,215,473 (GRCm39) E903G probably damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cnot2 G C 10: 116,334,320 (GRCm39) P274R possibly damaging Het
Cops7a G A 6: 124,939,359 (GRCm39) R97* probably null Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dnah8 G A 17: 30,945,870 (GRCm39) probably benign Het
Dnah8 A G 17: 30,854,479 (GRCm39) E47G unknown Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
H2-Q1 A T 17: 35,542,469 (GRCm39) M305L probably benign Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Kbtbd4 T C 2: 90,737,895 (GRCm39) V215A probably damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Med19 A G 2: 84,516,002 (GRCm39) H177R possibly damaging Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Mpl A G 4: 118,312,936 (GRCm39) M132T probably benign Het
Mtcl1 G T 17: 66,686,409 (GRCm39) H480Q probably benign Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or14j7 T A 17: 38,234,993 (GRCm39) C179S probably damaging Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or4c11 A C 2: 88,695,524 (GRCm39) M192L probably benign Het
Or6c214 A G 10: 129,590,584 (GRCm39) V245A probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pom121 G A 5: 135,412,740 (GRCm39) R481C unknown Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Rtl1 A G 12: 109,558,354 (GRCm39) S1162P probably benign Het
Samd9l G T 6: 3,376,269 (GRCm39) Q331K probably benign Het
Sipa1l1 T C 12: 82,419,208 (GRCm39) Y629H probably damaging Het
Slc12a2 A T 18: 58,037,425 (GRCm39) I512L possibly damaging Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Snw1 T A 12: 87,506,247 (GRCm39) I218F probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Thra T A 11: 98,653,899 (GRCm39) probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmem50a A G 4: 134,630,953 (GRCm39) probably benign Het
Tmem63b A G 17: 45,989,887 (GRCm39) probably null Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trip12 T C 1: 84,771,822 (GRCm39) S109G possibly damaging Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Tubgcp4 A T 2: 121,009,147 (GRCm39) probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Zfp408 A T 2: 91,480,093 (GRCm39) M1K probably null Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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
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'- CCCAAGACAGACAGATCTCTTTCTC -3'
(R):5'- CTGGGATACATGAATTAACTTGCG -3'

Sequencing Primer
(F):5'- TCTCTCGTGTAGCGCGC -3'
(R):5'- CTATCGTTCGTCCAGCAT -3'
Posted On 2014-07-14