Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Parp2'

361228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp2

Ensembl Gene

ENSMUSG00000036023

Gene Name

poly (ADP-ribose) polymerase family, member 2

Synonyms

PARP-2, Adprtl2, C78626, Aspartl2, Adprt2

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

50807841-50821301 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50815415 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 155 (I155K)

Ref Sequence

ENSEMBL: ENSMUSP00000048877 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036126
AA Change: I155K

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: I155K

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

noncoding transcript
Transcript: ENSMUST00000226880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227705

Predicted Effect

probably benign
Transcript: ENSMUST00000227810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228872

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Camk1d	A	G	2: 5,565,760	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in Parp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03022:Parp2	APN	14	50821096	missense	probably damaging	0.99
IGL03051:Parp2	APN	14	50819348	splice site	probably benign
R0110:Parp2	UTSW	14	50819673	missense	probably damaging	1.00
R0450:Parp2	UTSW	14	50819673	missense	probably damaging	1.00
R0510:Parp2	UTSW	14	50819673	missense	probably damaging	1.00
R1442:Parp2	UTSW	14	50819275	critical splice donor site	probably null
R1590:Parp2	UTSW	14	50810544	missense	probably benign	0.19
R1668:Parp2	UTSW	14	50820856	missense	probably benign	0.00
R1806:Parp2	UTSW	14	50819379	missense	probably damaging	0.99
R1846:Parp2	UTSW	14	50815386	nonsense	probably null
R2029:Parp2	UTSW	14	50810086	missense	probably benign	0.14
R2990:Parp2	UTSW	14	50817000	missense	probably benign
R3933:Parp2	UTSW	14	50819387	missense	probably benign	0.44
R4921:Parp2	UTSW	14	50819268	missense	probably damaging	0.99
R6406:Parp2	UTSW	14	50819477	missense	probably benign
R6799:Parp2	UTSW	14	50821096	missense	probably damaging	0.99
R7105:Parp2	UTSW	14	50810064	frame shift	probably null
R7250:Parp2	UTSW	14	50817344	missense	probably benign
R7606:Parp2	UTSW	14	50820030	missense	probably damaging	1.00
R8040:Parp2	UTSW	14	50810173	missense	probably benign
R8523:Parp2	UTSW	14	50819790	critical splice donor site	probably null
RF002:Parp2	UTSW	14	50817386	missense	probably damaging	1.00
X0019:Parp2	UTSW	14	50817099	missense	probably damaging	1.00

Posted On

2015-12-18