|Institutional Source||Beutler Lab|
|Gene Name||E2F transcription factor 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.484)|
|Stock #||R6237 (G1)|
|Chromosomal Location||136172394-136196057 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 136178485 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 103 (E103G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050047 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061721]|
|Predicted Effect||possibly damaging
AA Change: E103G
PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: E103G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0765|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death with signs of inflammatory and autoimmune disorders such as increased memory T cells, enlarged spleen, glomerulonephritis, inflammed liver, inflammed lung, increased double stranded DNA antibodies, hair loss, and erythema. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in E2f2||
(F):5'- GCTGACACTTCCTCACCAAG -3'
(R):5'- CGTGAGAATACACAAGAAACCTTG -3'
(F):5'- TCCTCACCAAGTTCAGCCGG -3'
(R):5'- CCTTGGAAAAGGGAATTGTCTG -3'