Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Parp2'

602581

Institutional Source

Beutler Lab

Gene Symbol

Parp2

Ensembl Gene

ENSMUSG00000036023

Gene Name

poly (ADP-ribose) polymerase family, member 2

Synonyms

Adprtl2, Aspartl2, Adprt2, C78626, PARP-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51045347-51058758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51054843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000048877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036126] [ENSMUST00000227810]

AlphaFold

O88554

PDB Structure

CRYSTAL STRUCTURE OF THE CATALYTIC FRAGMENT OF MURINE POLY (ADP-RIBOSE) POLYMERASE-2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036126
AA Change: E262G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: E262G

Domain	Start	End	E-Value	Type
WGR	95	175	1.17e-35	SMART
Pfam:PARP_reg	208	338	1.4e-49	PFAM
Pfam:PARP	341	553	1.8e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227810

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,162,675 (GRCm39)		probably benign	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nacc1	T	C	8: 85,402,848 (GRCm39)	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Or5b122	T	A	19: 13,563,415 (GRCm39)	I206N	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,006,686 (GRCm39)		probably null	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vmn2r56	G	A	7: 12,428,757 (GRCm39)	T503I	probably benign	Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	probably damaging	Het

Other mutations in Parp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02826:Parp2	APN	14	51,052,872 (GRCm39)	missense	probably benign	0.04
IGL03022:Parp2	APN	14	51,058,553 (GRCm39)	missense	probably damaging	0.99
IGL03051:Parp2	APN	14	51,056,805 (GRCm39)	splice site	probably benign
R0110:Parp2	UTSW	14	51,057,130 (GRCm39)	missense	probably damaging	1.00
R0450:Parp2	UTSW	14	51,057,130 (GRCm39)	missense	probably damaging	1.00
R0510:Parp2	UTSW	14	51,057,130 (GRCm39)	missense	probably damaging	1.00
R1442:Parp2	UTSW	14	51,056,732 (GRCm39)	critical splice donor site	probably null
R1590:Parp2	UTSW	14	51,048,001 (GRCm39)	missense	probably benign	0.19
R1668:Parp2	UTSW	14	51,058,313 (GRCm39)	missense	probably benign	0.00
R1806:Parp2	UTSW	14	51,056,836 (GRCm39)	missense	probably damaging	0.99
R1846:Parp2	UTSW	14	51,052,843 (GRCm39)	nonsense	probably null
R2029:Parp2	UTSW	14	51,047,543 (GRCm39)	missense	probably benign	0.14
R2990:Parp2	UTSW	14	51,054,457 (GRCm39)	missense	probably benign
R3933:Parp2	UTSW	14	51,056,844 (GRCm39)	missense	probably benign	0.44
R4921:Parp2	UTSW	14	51,056,725 (GRCm39)	missense	probably damaging	0.99
R6406:Parp2	UTSW	14	51,056,934 (GRCm39)	missense	probably benign
R6799:Parp2	UTSW	14	51,058,553 (GRCm39)	missense	probably damaging	0.99
R7105:Parp2	UTSW	14	51,047,521 (GRCm39)	frame shift	probably null
R7250:Parp2	UTSW	14	51,054,801 (GRCm39)	missense	probably benign
R7606:Parp2	UTSW	14	51,057,487 (GRCm39)	missense	probably damaging	1.00
R8040:Parp2	UTSW	14	51,047,630 (GRCm39)	missense	probably benign
R8523:Parp2	UTSW	14	51,057,247 (GRCm39)	critical splice donor site	probably null
R9089:Parp2	UTSW	14	51,052,327 (GRCm39)	missense	probably damaging	1.00
R9203:Parp2	UTSW	14	51,056,850 (GRCm39)	missense	probably benign	0.32
X0019:Parp2	UTSW	14	51,054,556 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTACATGAGGGAAACGGGATC -3'
(R):5'- CTAGCTACAAATCACATTGGATCC -3'

Sequencing Primer
(F):5'- CGGGATCGAGGGGGATG -3'
(R):5'- GTGACAAATACAAGTTTAAGAGGACC -3'

Posted On

2019-12-04