|Institutional Source||Beutler Lab|
|Gene Name||PR domain containing 2, with ZNF domain|
|Synonyms||KMT8, LOC381568, E330024L24Rik, Riz1, Riz, 4833427P12Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3944 (G1)|
|Chromosomal Location||143107391-143212995 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 143131815 bp|
|Amino Acid Change||Arginine to Glutamine at position 1635 (R1635Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101404 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105778]|
|Predicted Effect||possibly damaging
AA Change: R1635Q
PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: R1635Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3742|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prdm2||
(F):5'- AGTGCCACTCTGCTAAAAGGAC -3'
(R):5'- GAATTCTAGTCCCGTAAGAATGGC -3'
(F):5'- TCTGCTAAAAGGACAGACGTC -3'
(R):5'- GTCCCGTAAGAATGGCTAAGATTAC -3'