Incidental Mutation 'R1716:Peg3'
ID 191009
Institutional Source Beutler Lab
Gene Symbol Peg3
Ensembl Gene ENSMUSG00000002265
Gene Name paternally expressed 3
Synonyms Zfp102, Gcap4, End4, Pw1
MMRRC Submission 039749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1716 (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 6710780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1481 (I1481V)
Ref Sequence ENSEMBL: ENSMUSP00000050750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051209] [ENSMUST00000143703] [ENSMUST00000150182]
AlphaFold Q3URU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000051209
AA Change: I1481V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: I1481V

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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,731,946 (GRCm39) T2A unknown Het
Adgrf3 T A 5: 30,402,549 (GRCm39) Q493L probably benign Het
Ak6 T C 13: 100,792,177 (GRCm39) S207P probably benign Het
Ang A G 14: 51,338,937 (GRCm39) D26G probably benign Het
Ang T C 14: 51,338,957 (GRCm39) F33L probably damaging Het
Arhgef38 T A 3: 132,846,598 (GRCm39) Y389F probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bicd2 C A 13: 49,531,786 (GRCm39) H343N probably benign Het
Casp4 G A 9: 5,308,919 (GRCm39) probably null Het
Cd22 A G 7: 30,577,103 (GRCm39) F68S probably damaging Het
Cd46 T A 1: 194,760,117 (GRCm39) Q245L probably benign Het
Cntnap2 A T 6: 47,084,826 (GRCm39) R1096* probably null Het
Cntnap3 A G 13: 64,909,816 (GRCm39) V763A probably damaging Het
Cyp3a11 T C 5: 145,805,776 (GRCm39) T171A probably benign Het
Defa30 A G 8: 21,625,431 (GRCm39) Y65C probably damaging Het
Defb18 A T 1: 18,306,875 (GRCm39) M27K probably benign Het
Dnah17 A G 11: 117,923,424 (GRCm39) S4071P probably benign Het
Dnah7b T A 1: 46,230,943 (GRCm39) D1400E probably damaging Het
Dpysl5 C T 5: 30,935,338 (GRCm39) T147I probably benign Het
Dsg4 C T 18: 20,595,518 (GRCm39) R574* probably null Het
Entrep2 A T 7: 64,426,633 (GRCm39) probably null Het
Epm2a A G 10: 11,324,580 (GRCm39) E223G probably benign Het
Etl4 T C 2: 20,748,492 (GRCm39) S75P probably damaging Het
Fbxw15 T A 9: 109,386,204 (GRCm39) M312L probably benign Het
Fcgr4 C T 1: 170,847,672 (GRCm39) T90I probably damaging Het
Fras1 T A 5: 96,700,584 (GRCm39) D201E probably benign Het
Gadl1 A T 9: 115,835,576 (GRCm39) K335* probably null Het
Gcsam T G 16: 45,440,356 (GRCm39) V133G probably damaging Het
Gml G T 15: 74,685,665 (GRCm39) L107I possibly damaging Het
Golga2 T A 2: 32,192,909 (GRCm39) L409Q probably damaging Het
Gtf2a1l A T 17: 89,002,008 (GRCm39) Q241L probably benign Het
Gtf3c3 A G 1: 54,438,419 (GRCm39) Y799H probably damaging Het
Guca1b T G 17: 47,702,126 (GRCm39) probably benign Het
Igdcc4 C A 9: 65,034,179 (GRCm39) H617Q probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itga2b A C 11: 102,351,603 (GRCm39) I574S probably benign Het
Kcnk7 A T 19: 5,756,859 (GRCm39) I283F probably damaging Het
Kirrel3 T A 9: 34,934,843 (GRCm39) L450M probably damaging Het
Lmntd1 A T 6: 145,365,600 (GRCm39) S176R probably damaging Het
Lrrc39 C T 3: 116,373,216 (GRCm39) T292I probably benign Het
Ltbp1 A T 17: 75,622,019 (GRCm39) H801L probably benign Het
Macf1 T A 4: 123,295,196 (GRCm39) Q3318L probably damaging Het
Man1b1 T A 2: 25,235,032 (GRCm39) N282K probably benign Het
Map2k6 A T 11: 110,388,727 (GRCm39) E223V probably damaging Het
Marf1 C A 16: 13,960,450 (GRCm39) R531S possibly damaging Het
Mfge8 G A 7: 78,792,191 (GRCm39) R245C probably damaging Het
Mogat1 T G 1: 78,514,681 (GRCm39) N318K probably benign Het
Myh4 T A 11: 67,141,135 (GRCm39) S732R possibly damaging Het
Myt1l T A 12: 29,861,537 (GRCm39) D106E unknown Het
Ndc1 T C 4: 107,241,992 (GRCm39) F302L probably damaging Het
Ndrg4 C T 8: 96,438,956 (GRCm39) A290V probably benign Het
Nfia A T 4: 97,951,365 (GRCm39) K397N probably damaging Het
Nlrp4e A T 7: 23,020,458 (GRCm39) Q315L possibly damaging Het
Oga C A 19: 45,740,613 (GRCm39) K907N probably benign Het
Or10p22 A C 10: 128,826,721 (GRCm39) *313C probably null Het
Or1ad8 T A 11: 50,898,679 (GRCm39) N293K probably damaging Het
Phldb2 C T 16: 45,595,413 (GRCm39) G883D probably benign Het
Pik3c2b T A 1: 133,022,564 (GRCm39) Y1169N probably damaging Het
Plcl1 A T 1: 55,734,997 (GRCm39) I113F probably damaging Het
Pomt2 T C 12: 87,171,610 (GRCm39) I457V probably benign Het
Ppil1 T C 17: 29,480,809 (GRCm39) N38S possibly damaging Het
Prf1 A G 10: 61,136,231 (GRCm39) N169S probably benign Het
Prmt8 A C 6: 127,703,486 (GRCm39) probably null Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Rab12 A T 17: 66,807,315 (GRCm39) M138K possibly damaging Het
Reln T C 5: 22,160,093 (GRCm39) T2159A probably damaging Het
Retsat A T 6: 72,583,063 (GRCm39) Y36F probably damaging Het
Rgs14 A T 13: 55,526,696 (GRCm39) Q116L probably damaging Het
Rlbp1 A T 7: 79,025,684 (GRCm39) N252K probably damaging Het
Rtraf A G 14: 19,862,242 (GRCm39) L215P probably damaging Het
Sec1 A T 7: 45,328,789 (GRCm39) M86K probably benign Het
Sec24b A T 3: 129,834,665 (GRCm39) S42T possibly damaging Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc35f5 T G 1: 125,512,269 (GRCm39) D356E possibly damaging Het
Smpd4 T C 16: 17,460,365 (GRCm39) S694P probably damaging Het
Spag6 G T 2: 18,750,420 (GRCm39) probably null Het
Spata31d1c T C 13: 65,181,030 (GRCm39) I43T possibly damaging Het
Ssh1 T C 5: 114,090,081 (GRCm39) D314G possibly damaging Het
Tnfrsf17 G A 16: 11,137,595 (GRCm39) D111N probably benign Het
Ttn A G 2: 76,553,635 (GRCm39) I30994T probably damaging Het
Ttn A T 2: 76,614,320 (GRCm39) F8737L probably damaging Het
Ush1c G T 7: 45,845,152 (GRCm39) F890L probably benign Het
Usp36 C T 11: 118,162,957 (GRCm39) probably null Het
Vmn2r115 T C 17: 23,566,795 (GRCm39) Y436H probably benign Het
Vmn2r94 T A 17: 18,477,635 (GRCm39) M259L probably benign Het
Wwp1 T C 4: 19,659,698 (GRCm39) T197A probably benign Het
Zbtb37 T A 1: 160,847,814 (GRCm39) M398L probably benign Het
Zfp804b C T 5: 6,819,673 (GRCm39) C1130Y probably benign Het
Zfp9 A G 6: 118,441,712 (GRCm39) C317R probably damaging Het
Zscan20 T C 4: 128,480,334 (GRCm39) H719R probably damaging 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
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'- GTTCAATGTAGCCAGAGCACTCTCC -3'
(R):5'- AAATGCAGAAGCTGCTGAGCCC -3'

Sequencing Primer
(F):5'- AGCACTCTCCAGGAGCATTG -3'
(R):5'- AAGCTGCTGAGCCTGATG -3'
Posted On 2014-05-14