Incidental Mutation 'R7853:Peg3'
ID 607065
Institutional Source Beutler Lab
Gene Symbol Peg3
Ensembl Gene ENSMUSG00000002265
Gene Name paternally expressed 3
Synonyms Zfp102, Gcap4, End4, Pw1
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 6706891-6733430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6711839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1128 (E1128K)
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: E1128K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: E1128K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (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
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
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'- GGCAGGATTCCTTTCAACAGTG -3'
(R):5'- TGCTACCATTCAGGCCTCAG -3'

Sequencing Primer
(F):5'- TTGGTCTCACGGGCAACAGAG -3'
(R):5'- GCCTCAGTTTCTGAAGAGCATCAG -3'
Posted On 2019-12-20