|Institutional Source||Beutler Lab|
|Gene Name||PR domain containing 9|
|Synonyms||Dsbc1, repro7, Rcr1, Meisetz, G1-419-29|
|Is this an essential gene?||Possibly non essential (E-score: 0.460)|
|Stock #||R7755 (G1)|
|Chromosomal Location||15543079-15564354 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 15544964 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 518 (C518Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000131871 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000167994]|
|Predicted Effect||probably damaging
AA Change: C518Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C518Y
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased oocyte number, azoospermia, and sterility in both sexes due to severe impairment of the double-stranded break repair pathway, deficient pairing of homologous chromosomes, and impaired sex body formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prdm9||
(F):5'- CCTGCAAACATAGGGCTTCTC -3'
(R):5'- ACCCAGGCAGAGGATTTCAAC -3'
(F):5'- AGGTCTGACTTCTGTGTAAAGCCC -3'
(R):5'- GGCAGAGGATTTCAACAACCTTTC -3'