Incidental Mutation 'R9599:Peg3'
ID 723451
Institutional Source Beutler Lab
Gene Symbol Peg3
Ensembl Gene ENSMUSG00000002265
Gene Name paternally expressed 3
Synonyms Zfp102, Gcap4, End4, Pw1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9599 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 6706891-6733430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6714723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 166 (K166N)
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: K166N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: K166N

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: 99.5%
  • 20x: 98.4%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,267 (GRCm39) N1152S probably benign Het
Abcb6 A T 1: 75,151,372 (GRCm39) Y518N possibly damaging Het
Actr2 G A 11: 20,030,745 (GRCm39) P168S probably damaging Het
Adam12 A G 7: 133,566,454 (GRCm39) V332A probably damaging Het
Adam23 T C 1: 63,620,359 (GRCm39) I805T probably benign Het
Adar A G 3: 89,654,516 (GRCm39) T883A probably benign Het
Aldh3a1 A G 11: 61,107,912 (GRCm39) T319A probably damaging Het
Apcdd1 T A 18: 63,083,269 (GRCm39) probably null Het
Arhgef18 C A 8: 3,482,718 (GRCm39) A141E possibly damaging Het
Bub3 A G 7: 131,170,428 (GRCm39) T317A probably benign Het
Ccdc102a A G 8: 95,639,901 (GRCm39) L131P probably damaging Het
Ccdc60 C A 5: 116,269,265 (GRCm39) D452Y probably damaging Het
Ccdc66 T C 14: 27,219,381 (GRCm39) E125G probably damaging Het
Ccdc68 A G 18: 70,093,492 (GRCm39) E233G probably damaging Het
Cep192 A G 18: 67,968,525 (GRCm39) D973G probably benign Het
Cox5b T A 1: 36,730,759 (GRCm39) M31K probably benign Het
Cse1l A G 2: 166,783,386 (GRCm39) N780S probably benign Het
Cyfip1 T C 7: 55,563,277 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,607,770 (GRCm39) P133S probably benign Het
Dcp1a A G 14: 30,241,497 (GRCm39) M436V probably benign Het
Dcst1 G T 3: 89,265,075 (GRCm39) Y258* probably null Het
Dhx30 T C 9: 109,914,518 (GRCm39) E993G possibly damaging Het
Disc1 A T 8: 125,814,261 (GRCm39) M42L possibly damaging Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Entrep3 A G 3: 89,094,099 (GRCm39) D304G possibly damaging Het
Erbb2 A T 11: 98,318,216 (GRCm39) D484V probably benign Het
Fxr2 A G 11: 69,543,469 (GRCm39) N657D probably benign Het
Gbx2 T C 1: 89,856,635 (GRCm39) T252A probably damaging Het
Gdap2 A T 3: 100,078,264 (GRCm39) N76I probably damaging Het
Gm20939 A G 17: 95,184,666 (GRCm39) Y438C probably damaging Het
Gsdma2 A G 11: 98,540,459 (GRCm39) E126G possibly damaging Het
Gsg1 T G 6: 135,217,098 (GRCm39) H246P probably damaging Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Ighv1-62-1 T C 12: 115,350,601 (GRCm39) Q22R possibly damaging Het
Kcng3 A T 17: 83,895,211 (GRCm39) F418L probably benign Het
Lin54 C A 5: 100,598,546 (GRCm39) R593L probably damaging Het
Lrp1 T A 10: 127,410,246 (GRCm39) N1500I probably damaging Het
Lvrn A C 18: 46,999,494 (GRCm39) S287R probably benign Het
Mab21l4 T C 1: 93,087,568 (GRCm39) E95G possibly damaging Het
Madd G A 2: 91,006,026 (GRCm39) P390S probably damaging Het
Mapk8ip3 C A 17: 25,118,124 (GRCm39) R1281L probably damaging Het
Masp1 T A 16: 23,271,698 (GRCm39) T618S probably benign Het
Mgat5 A G 1: 127,248,445 (GRCm39) T116A probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrpl39 A G 16: 84,527,359 (GRCm39) F176S probably damaging Het
Myt1l T C 12: 29,943,441 (GRCm39) I953T unknown Het
Nedd4l A G 18: 65,343,400 (GRCm39) H820R probably damaging Het
Nxpe3 A T 16: 55,664,855 (GRCm39) V455D probably damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or10ak8 C T 4: 118,773,851 (GRCm39) R271Q probably benign Het
Patz1 A G 11: 3,240,720 (GRCm39) N36S probably benign Het
Pes1 T A 11: 3,926,118 (GRCm39) D302E probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plekhh3 G A 11: 101,054,972 (GRCm39) T627M unknown Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Rnf20 T C 4: 49,638,751 (GRCm39) V191A probably benign Het
Scn8a A T 15: 100,911,172 (GRCm39) K864M probably damaging Het
Sema3c T C 5: 17,919,452 (GRCm39) probably null Het
Slc24a4 C T 12: 102,097,779 (GRCm39) T30I probably benign Het
Slc27a2 A G 2: 126,420,904 (GRCm39) D465G probably damaging Het
Snrnp48 T C 13: 38,393,920 (GRCm39) M75T probably benign Het
Srgap2 A G 1: 131,272,164 (GRCm39) S41P Het
St3gal5 A G 6: 72,130,580 (GRCm39) T391A probably benign Het
Stkld1 T C 2: 26,843,297 (GRCm39) L628P possibly damaging Het
Tbc1d1 T A 5: 64,502,701 (GRCm39) M1074K probably benign Het
Tent2 G T 13: 93,322,821 (GRCm39) Q43K probably benign Het
Tpsb2 T A 17: 25,586,077 (GRCm39) Y98* probably null Het
Trav6d-3 G A 14: 52,964,144 (GRCm39) D36N probably benign Het
Trim16 A G 11: 62,731,644 (GRCm39) Y505C probably damaging Het
Ttpal A G 2: 163,457,458 (GRCm39) D310G probably benign Het
Ubox5 A G 2: 130,441,835 (GRCm39) I284T probably damaging Het
Vmn2r45 T A 7: 8,478,457 (GRCm39) probably null Het
Vmn2r67 T C 7: 84,804,941 (GRCm39) D57G probably damaging Het
Wdfy4 T C 14: 32,855,428 (GRCm39) T729A Het
Wdr81 A T 11: 75,344,349 (GRCm39) M306K probably benign Het
Zfp62 A G 11: 49,106,542 (GRCm39) D211G probably damaging Het
Zfyve16 T C 13: 92,636,763 (GRCm39) K1316E 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
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
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'- CTTCTGCTGGAGGAACTGTC -3'
(R):5'- GATGACCGACACTCTCACATG -3'

Sequencing Primer
(F):5'- CCTTCCAGTTATCATTAGGCCTGGG -3'
(R):5'- TGACACAAGGCCACTCATCGAG -3'
Posted On 2022-08-09