|Institutional Source||Beutler Lab|
|Gene Name||paternally expressed 3|
|Synonyms||Zfp102, Gcap4, Pw1, End4|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5076 (G1)|
|Chromosomal Location||6703892-6730431 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 6708420 bp (GRCm38)|
|Amino Acid Change||Cysteine to Arginine at position 1268 (C1268R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050750 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051209] [ENSMUST00000143703] [ENSMUST00000150182]|
AA Change: C1268R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: C1268R
|Meta Mutation Damage Score||0.9088|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]
PHENOTYPE: Heterozygous mutant females exhibit growth retardation, impaired maternal behavior and diminished milk ejection, and fewer oxytocin neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Peg3||
(F):5'- AGTGTCGTCTAGGAAGGACTGG -3'
(R):5'- TGTTGAAAGGAATCCTGCCG -3'
(F):5'- AAGGACTGGCCGCAATCTTTG -3'
(R):5'- AAAGGAATCCTGCCGTTTCTG -3'