Incidental Mutation 'R0518:Peg3'
ID 48294
Institutional Source Beutler Lab
Gene Symbol Peg3
Ensembl Gene ENSMUSG00000002265
Gene Name paternally expressed 3
Synonyms Zfp102, Gcap4, End4, Pw1
MMRRC Submission 038711-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0518 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6706891-6733430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6714427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 265 (E265G)
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: E265G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: E265G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,181,112 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acsm5 T C 7: 119,135,023 (GRCm39) V327A possibly damaging Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Akr1c14 T C 13: 4,131,016 (GRCm39) L236S probably damaging Het
Ammecr1l C T 18: 31,904,954 (GRCm39) S65L probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Arhgef16 G T 4: 154,375,491 (GRCm39) P168T probably damaging Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Cacna1s C A 1: 136,004,597 (GRCm39) D132E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Coa3 T A 11: 101,169,716 (GRCm39) K13M probably damaging Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Cryba2 T C 1: 74,929,284 (GRCm39) Y153C possibly damaging Het
Cryzl2 T C 1: 157,292,000 (GRCm39) V93A probably damaging Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Cyp2r1 T G 7: 114,152,135 (GRCm39) H274P probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Dnai4 A C 4: 102,921,727 (GRCm39) Y464* probably null Het
Dnd1 A G 18: 36,897,096 (GRCm39) V350A possibly damaging Het
Dsg1b A T 18: 20,521,221 (GRCm39) Q26L probably benign Het
Fam20b C A 1: 156,515,026 (GRCm39) V280F possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Hsd3b7 A G 7: 127,402,251 (GRCm39) T330A probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Kti12 T A 4: 108,705,776 (GRCm39) V230E possibly damaging Het
Lhfpl7 T A 5: 113,383,873 (GRCm39) L97* probably null Het
Mgat5 T A 1: 127,312,584 (GRCm39) I241N probably damaging Het
Mkln1 A G 6: 31,445,067 (GRCm39) N321S probably benign Het
Mllt10 T G 2: 18,076,017 (GRCm39) probably null Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nipsnap3b T A 4: 53,021,343 (GRCm39) F243I probably damaging Het
Ogfod1 T A 8: 94,781,876 (GRCm39) probably null Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
P2ry14 T A 3: 59,022,625 (GRCm39) E287D probably damaging Het
Pank4 A T 4: 155,061,082 (GRCm39) R510S possibly damaging Het
Pcsk6 T A 7: 65,629,915 (GRCm39) V347E possibly damaging Het
Pik3c2b C A 1: 133,033,730 (GRCm39) P1578H probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Ppp1r26 A G 2: 28,342,314 (GRCm39) D648G probably damaging Het
Ptprs A G 17: 56,726,621 (GRCm39) probably null Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Rigi C T 4: 40,216,354 (GRCm39) probably null Het
Septin5 T C 16: 18,443,647 (GRCm39) T92A probably benign Het
Ski A G 4: 155,243,743 (GRCm39) probably null Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Slc25a36 A T 9: 96,979,228 (GRCm39) I71N probably damaging Het
Syne2 A C 12: 76,155,636 (GRCm39) probably null Het
Tdrd5 C A 1: 156,090,511 (GRCm39) W845L probably damaging Het
Tfb2m T C 1: 179,365,389 (GRCm39) I192V possibly damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Trank1 A C 9: 111,162,876 (GRCm39) D45A probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Trim9 A T 12: 70,393,359 (GRCm39) L195Q probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn1r4 G T 6: 56,933,883 (GRCm39) C129F probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
YA93:Peg3 UTSW 7 6,714,646 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGATGACACTGAACTGCCTCC -3'
(R):5'- ATGTGGCTCGCAACCCCAAATC -3'

Sequencing Primer
(F):5'- CATCACACACGTATGGGTTG -3'
(R):5'- CCGGAAGAGCAAGGGAGC -3'
Posted On 2013-06-12