Incidental Mutation 'YA93:Peg3'
ID 81
Institutional Source Beutler Lab
Gene Symbol Peg3
Ensembl Gene ENSMUSG00000002265
Gene Name paternally expressed 3
Synonyms Zfp102, Gcap4, End4, Pw1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # YA93 of strain inept
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 6706891-6733430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6714646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 192 (E192V)
Ref Sequence ENSEMBL: ENSMUSP00000050750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051209] [ENSMUST00000143703] [ENSMUST00000150182]
AlphaFold Q3URU2
Predicted Effect probably damaging
Transcript: ENSMUST00000051209
AA Change: E192V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: E192V

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 213 221 N/A INTRINSIC
ZnF_C2H2 325 347 7.26e-3 SMART
ZnF_C2H2 378 400 6.88e-4 SMART
ZnF_C2H2 436 458 2.95e-3 SMART
low complexity region 464 496 N/A INTRINSIC
ZnF_C2H2 520 542 5.99e-4 SMART
low complexity region 691 698 N/A INTRINSIC
ZnF_C2H2 850 872 2.99e-4 SMART
ZnF_C2H2 1091 1113 2.05e-2 SMART
ZnF_C2H2 1147 1169 1.04e-3 SMART
ZnF_C2H2 1209 1231 1.38e-3 SMART
ZnF_C2H2 1266 1289 1.89e-1 SMART
ZnF_C2H2 1317 1339 1.57e2 SMART
low complexity region 1373 1419 N/A INTRINSIC
low complexity region 1440 1486 N/A INTRINSIC
ZnF_C2H2 1488 1510 2.2e-2 SMART
ZnF_C2H2 1547 1569 1.38e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143703
SMART Domains Protein: ENSMUSP00000122423
Gene: ENSMUSG00000002265

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150182
SMART Domains Protein: ENSMUSP00000116161
Gene: ENSMUSG00000002265

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Meta Mutation Damage Score 0.1379 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 81.3%
Validation Efficiency 88% (101/115)
MGI Phenotype 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

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt4 T A 7: 140,647,324 (GRCm39) I358K possibly damaging Homo
Ccdc168 A G 1: 44,104,245 (GRCm39) probably benign Het
Chodl A G 16: 78,738,170 (GRCm39) H46R probably benign Homo
Cubn C A 2: 13,388,803 (GRCm39) R1468L probably benign Het
Dlg5 G A 14: 24,205,201 (GRCm39) probably benign Het
Dntt A C 19: 41,041,626 (GRCm39) M437L probably benign Het
Grsf1 G A 5: 88,821,594 (GRCm39) P157S probably damaging Het
Lct C T 1: 128,229,057 (GRCm39) G812D probably damaging Het
Osbpl5 T A 7: 143,247,607 (GRCm39) I720F probably benign Homo
Pbld2 T A 10: 62,890,224 (GRCm39) Y211N possibly damaging Het
Ptbp3 T C 4: 59,524,413 (GRCm39) T38A possibly damaging Het
Rpap3 T A 15: 97,591,114 (GRCm39) E241V possibly damaging Het
Scara3 C A 14: 66,168,398 (GRCm39) M406I probably damaging Het
Serpinf2 C A 11: 75,323,510 (GRCm39) V399L probably benign Het
Other mutations in Peg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Peg3 APN 7 6,713,273 (GRCm39) missense probably benign 0.09
IGL01410:Peg3 APN 7 6,710,624 (GRCm39) missense probably benign 0.04
IGL01415:Peg3 APN 7 6,714,652 (GRCm39) missense probably damaging 0.99
IGL02073:Peg3 APN 7 6,714,001 (GRCm39) missense probably damaging 1.00
IGL02193:Peg3 APN 7 6,714,927 (GRCm39) missense probably damaging 1.00
IGL02212:Peg3 APN 7 6,714,415 (GRCm39) missense probably benign 0.41
IGL02215:Peg3 APN 7 6,712,010 (GRCm39) missense probably benign 0.00
IGL02407:Peg3 APN 7 6,710,635 (GRCm39) missense probably damaging 0.99
IGL02586:Peg3 APN 7 6,713,068 (GRCm39) missense probably benign
IGL02673:Peg3 APN 7 6,713,413 (GRCm39) missense probably damaging 1.00
IGL02935:Peg3 APN 7 6,714,128 (GRCm39) missense probably damaging 1.00
IGL03277:Peg3 APN 7 6,714,673 (GRCm39) missense probably damaging 1.00
IGL03330:Peg3 APN 7 6,713,412 (GRCm39) missense probably damaging 1.00
IGL03393:Peg3 APN 7 6,710,648 (GRCm39) missense probably damaging 0.99
R0049:Peg3 UTSW 7 6,714,672 (GRCm39) missense possibly damaging 0.85
R0049:Peg3 UTSW 7 6,714,672 (GRCm39) missense possibly damaging 0.85
R0518:Peg3 UTSW 7 6,714,427 (GRCm39) missense probably damaging 1.00
R0521:Peg3 UTSW 7 6,714,427 (GRCm39) missense probably damaging 1.00
R1477:Peg3 UTSW 7 6,719,141 (GRCm39) missense probably damaging 1.00
R1716:Peg3 UTSW 7 6,710,780 (GRCm39) missense possibly damaging 0.93
R1721:Peg3 UTSW 7 6,712,900 (GRCm39) missense possibly damaging 0.92
R1732:Peg3 UTSW 7 6,712,084 (GRCm39) missense possibly damaging 0.72
R2051:Peg3 UTSW 7 6,715,720 (GRCm39) missense probably damaging 0.96
R2288:Peg3 UTSW 7 6,712,114 (GRCm39) missense probably damaging 0.96
R3606:Peg3 UTSW 7 6,711,508 (GRCm39) missense probably damaging 1.00
R5075:Peg3 UTSW 7 6,711,419 (GRCm39) missense probably damaging 1.00
R5076:Peg3 UTSW 7 6,711,419 (GRCm39) missense probably damaging 1.00
R5084:Peg3 UTSW 7 6,710,848 (GRCm39) missense probably damaging 1.00
R5097:Peg3 UTSW 7 6,713,026 (GRCm39) missense probably damaging 0.99
R5121:Peg3 UTSW 7 6,713,288 (GRCm39) missense probably benign 0.20
R5141:Peg3 UTSW 7 6,712,381 (GRCm39) missense probably benign 0.03
R5292:Peg3 UTSW 7 6,711,259 (GRCm39) missense probably damaging 1.00
R5294:Peg3 UTSW 7 6,720,848 (GRCm39) missense possibly damaging 0.88
R5342:Peg3 UTSW 7 6,712,969 (GRCm39) missense probably damaging 1.00
R5415:Peg3 UTSW 7 6,711,628 (GRCm39) missense probably benign
R5906:Peg3 UTSW 7 6,720,854 (GRCm39) missense probably damaging 0.99
R6056:Peg3 UTSW 7 6,712,570 (GRCm39) missense probably damaging 1.00
R6259:Peg3 UTSW 7 6,712,810 (GRCm39) missense probably damaging 0.99
R6529:Peg3 UTSW 7 6,711,071 (GRCm39) missense probably damaging 1.00
R6631:Peg3 UTSW 7 6,712,069 (GRCm39) missense possibly damaging 0.72
R6855:Peg3 UTSW 7 6,711,797 (GRCm39) missense probably benign 0.13
R6861:Peg3 UTSW 7 6,714,385 (GRCm39) nonsense probably null
R6864:Peg3 UTSW 7 6,715,761 (GRCm39) missense probably damaging 1.00
R6892:Peg3 UTSW 7 6,711,898 (GRCm39) missense possibly damaging 0.58
R7018:Peg3 UTSW 7 6,711,838 (GRCm39) missense possibly damaging 0.72
R7039:Peg3 UTSW 7 6,720,858 (GRCm39) missense probably damaging 0.99
R7066:Peg3 UTSW 7 6,711,856 (GRCm39) missense probably damaging 1.00
R7117:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
R7133:Peg3 UTSW 7 6,711,944 (GRCm39) missense probably damaging 1.00
R7493:Peg3 UTSW 7 6,712,723 (GRCm39) missense probably damaging 1.00
R7539:Peg3 UTSW 7 6,711,167 (GRCm39) missense probably benign 0.00
R7642:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
R7646:Peg3 UTSW 7 6,712,221 (GRCm39) missense probably benign
R7658:Peg3 UTSW 7 6,712,609 (GRCm39) missense probably damaging 1.00
R7846:Peg3 UTSW 7 6,713,650 (GRCm39) missense probably damaging 1.00
R7853:Peg3 UTSW 7 6,711,839 (GRCm39) missense possibly damaging 0.72
R7903:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
R7913:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
R7948:Peg3 UTSW 7 6,711,781 (GRCm39) missense probably damaging 1.00
R8219:Peg3 UTSW 7 6,711,364 (GRCm39) missense probably benign 0.00
R8385:Peg3 UTSW 7 6,711,082 (GRCm39) missense probably damaging 1.00
R8672:Peg3 UTSW 7 6,711,523 (GRCm39) missense possibly damaging 0.62
R9133:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
R9209:Peg3 UTSW 7 6,711,226 (GRCm39) missense possibly damaging 0.48
R9457:Peg3 UTSW 7 6,710,998 (GRCm39) missense probably damaging 0.99
R9518:Peg3 UTSW 7 6,714,280 (GRCm39) missense probably benign 0.00
R9519:Peg3 UTSW 7 6,714,394 (GRCm39) missense probably benign 0.00
R9599:Peg3 UTSW 7 6,714,723 (GRCm39) missense probably damaging 0.97
RF039:Peg3 UTSW 7 6,712,167 (GRCm39) unclassified probably benign
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 937 of the Peg3 transcript in exon 9 of 9 total exons. The mutated nucleotide causes a glutamic acid to valine substitution at amino acid 192 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Peg3 gene is expressed in embryos and the adult brain from the paternal allele only, and encodes a 1571 amino acid protein that belongs to the Krüppel C2H2-type zinc finger family. PEG3 is able to form a homodimer and contains 12 zinc fingers plus a number of internal repeats.  PEG3 is induced during p53 mediated apoptosis in response to DNA damage in cortical neurons and induces apoptosis in cooperation with SIAH1A. PEG3 also interacts with TRAF2 and inhibits tumor necrosis factor (TNF)-induced apoptosis through activation of NF-κB. PEG3 plays a role in regulating maternal behavior and offspring growth (Uniprot Q3URU2).
 
The E192V change does not occur in any predicted domain, but is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-01