Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Peg3'

552816

Institutional Source

Beutler Lab

Gene Symbol

Peg3

Ensembl Gene

ENSMUSG00000002265

Gene Name

paternally expressed 3

Synonyms

Zfp102, Gcap4, End4, Pw1

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6706891-6733430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6711944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1093 (C1093S)

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: C1093S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050750
Gene: ENSMUSG00000002265
AA Change: C1093S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Sbno2	T	C	10: 79,922,146 (GRCm39)	D9G	probably damaging	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	probably damaging	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
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
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'- TTCGTGAACTCTCTGGTGC -3'
(R):5'- CCATTGATCAGGAGATGCGC -3'

Sequencing Primer
(F):5'- ACTCTCTGGTGCTCGAAAAG -3'
(R):5'- CAGTGAAGAGCCCCACAGTG -3'

Posted On

2019-05-15