Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Peg3'

484394

Institutional Source

Beutler Lab

Gene Symbol

Peg3

Ensembl Gene

ENSMUSG00000002265

Gene Name

paternally expressed 3

Synonyms

Zfp102, Gcap4, End4, Pw1

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6706891-6733430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6712570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 884 (E884G)

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: E884G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: E884G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150182

SMART Domains

Protein: ENSMUSP00000116161
Gene: ENSMUSG00000002265

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.2489

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,115 (GRCm39)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,184,464 (GRCm39)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,508,123 (GRCm39)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,963 (GRCm39)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,748,132 (GRCm39)	K376R	probably benign	Het
Anxa5	A	G	3: 36,504,840 (GRCm39)	S241P	probably damaging	Het
Aox3	A	T	1: 58,209,018 (GRCm39)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,358,473 (GRCm39)	M415T	probably benign	Het
Aspa	T	A	11: 73,199,578 (GRCm39)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,438,782 (GRCm39)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,853,528 (GRCm39)	V719E	possibly damaging	Het
Bltp2	C	A	11: 78,162,210 (GRCm39)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,033,574 (GRCm39)	V1017G	probably damaging	Het
Chrna4	G	T	2: 180,671,235 (GRCm39)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,677,765 (GRCm39)	V329D	probably damaging	Het
Chst14	T	C	2: 118,758,214 (GRCm39)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,077,772 (GRCm39)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,380,263 (GRCm39)	S343A	probably benign	Het
Dapl1	C	A	2: 59,315,057 (GRCm39)	A2E	probably damaging	Het
Dlec1	G	T	9: 118,950,991 (GRCm39)	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,845,251 (GRCm39)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,888,834 (GRCm39)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,892,191 (GRCm39)	T3661P	probably benign	Het
Dnah3	A	G	7: 119,629,254 (GRCm39)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 152,062,583 (GRCm39)		probably benign	Het
Dot1l	A	G	10: 80,621,929 (GRCm39)	E527G	probably damaging	Het
Drc7	T	C	8: 95,801,679 (GRCm39)	L680P	probably damaging	Het
Dysf	T	C	6: 84,083,844 (GRCm39)	Y742H	probably benign	Het
Ece1	A	G	4: 137,688,958 (GRCm39)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,081,533 (GRCm39)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,215,760 (GRCm39)	T247M	probably damaging	Het
Exoc2	T	C	13: 31,084,812 (GRCm39)	K383R	probably benign	Het
Fam227b	A	T	2: 125,962,972 (GRCm39)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,816,017 (GRCm39)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,892,338 (GRCm39)		probably benign	Het
Hgfac	T	A	5: 35,198,973 (GRCm39)	C11*	probably null	Het
Hmcn1	C	A	1: 150,539,660 (GRCm39)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,416,521 (GRCm39)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,649,120 (GRCm39)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,297,860 (GRCm39)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,077,577 (GRCm39)	S59P	probably benign	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kif1a	T	C	1: 92,952,370 (GRCm39)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,583,004 (GRCm39)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,388,484 (GRCm39)	Q2314K	unknown	Het
LTO1	G	T	7: 144,469,023 (GRCm39)	V17L	possibly damaging	Het
Lurap1	G	T	4: 115,994,599 (GRCm39)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,713,874 (GRCm39)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 120,242,341 (GRCm39)	L894V	probably benign	Het
Mefv	G	A	16: 3,525,906 (GRCm39)	S787F	possibly damaging	Het
Miip	T	A	4: 147,946,792 (GRCm39)	I289F	probably damaging	Het
Mogat2	T	A	7: 98,872,720 (GRCm39)	I155F	possibly damaging	Het
Mpp3	C	A	11: 101,902,515 (GRCm39)		probably null	Het
Mrrf	A	G	2: 36,067,233 (GRCm39)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,535,619 (GRCm39)	P485L	probably damaging	Het
Mtor	G	A	4: 148,621,892 (GRCm39)	R1896K	probably benign	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Nebl	A	G	2: 17,455,045 (GRCm39)	V112A	probably benign	Het
Nmnat2	G	A	1: 152,950,480 (GRCm39)	W55*	probably null	Het
Nprl3	A	G	11: 32,217,432 (GRCm39)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,421,445 (GRCm39)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,819,383 (GRCm39)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,876,165 (GRCm39)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Phf12	A	G	11: 77,900,341 (GRCm39)	T146A	probably benign	Het
Polr3k	C	G	2: 181,506,281 (GRCm39)	N10K	probably damaging	Het
Prickle4	C	A	17: 48,001,135 (GRCm39)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,709,398 (GRCm39)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,160 (GRCm39)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm39)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,444,335 (GRCm39)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,544,143 (GRCm39)	R136L	probably damaging	Het
Scube2	A	T	7: 109,432,220 (GRCm39)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,007,452 (GRCm39)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 107,869,458 (GRCm39)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,705,832 (GRCm39)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,362,560 (GRCm39)	I62T	probably benign	Het
Sowaha	G	A	11: 53,369,914 (GRCm39)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,886,794 (GRCm39)	N869S	probably benign	Het
Stx18	C	A	5: 38,263,908 (GRCm39)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,646,430 (GRCm39)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,275,624 (GRCm39)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm39)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,951,475 (GRCm39)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,801,603 (GRCm39)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,714,479 (GRCm39)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,244,552 (GRCm39)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,512,994 (GRCm39)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,139,797 (GRCm39)		probably null	Het
Uggt2	C	T	14: 119,273,381 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,102,021 (GRCm39)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,785,687 (GRCm39)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,976,680 (GRCm39)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,487,806 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,973,277 (GRCm39)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,553,178 (GRCm39)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,737,018 (GRCm39)		probably null	Het

Other mutations in Peg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGCTCCTCGGCATTAAATGTC -3'
(R):5'- TCGTGAACACCAGAAAGCTCG -3'

Posted On

2017-07-14