Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Parp2'

203484

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

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51045347-51058758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51056836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 320 (L320H)

Ref Sequence

ENSEMBL: ENSMUSP00000048877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006444] [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 benign
Transcript: ENSMUST00000006444

SMART Domains

Protein: ENSMUSP00000006444
Gene: ENSMUSG00000006281

Domain	Start	End	E-Value	Type
Pfam:TEP1_N	1	29	2.8e-20	PFAM
Pfam:TEP1_N	31	59	1.4e-20	PFAM
Pfam:TEP1_N	61	89	3.1e-20	PFAM
Pfam:TEP1_N	91	119	3e-20	PFAM
low complexity region	195	207	N/A	INTRINSIC
low complexity region	211	229	N/A	INTRINSIC
Pfam:TROVE	230	685	3.2e-136	PFAM
Pfam:DUF4062	909	1020	2.4e-22	PFAM
Pfam:NACHT	1171	1346	9.2e-38	PFAM
low complexity region	1393	1405	N/A	INTRINSIC
low complexity region	1622	1641	N/A	INTRINSIC
WD40	1673	1711	2.98e-1	SMART
WD40	1714	1752	5.33e0	SMART
WD40	1755	1794	1.52e-4	SMART
WD40	1797	1835	3.27e-4	SMART
WD40	1838	1877	3.09e-1	SMART
WD40	1880	1919	2.24e-2	SMART
WD40	1925	1962	4.95e0	SMART
WD40	1968	2003	2.29e1	SMART
WD40	2008	2045	1.72e0	SMART
WD40	2058	2097	3.89e-11	SMART
WD40	2103	2142	3.93e-7	SMART
WD40	2145	2182	4.38e-5	SMART
WD40	2184	2232	1.24e0	SMART
WD40	2235	2273	1.14e-3	SMART
WD40	2275	2315	4.46e-1	SMART
Blast:WD40	2316	2353	4e-12	BLAST
WD40	2546	2583	6.79e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000036126
AA Change: L320H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: L320H

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: ENSMUST00000226222

Predicted Effect

probably benign
Transcript: ENSMUST00000226430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226880

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	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
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
RF002:Parp2	UTSW	14	51,054,843 (GRCm39)	missense	probably damaging	1.00
X0019:Parp2	UTSW	14	51,054,556 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCACTGTGCTTG -3'
(R):5'- AGAACTTTCCGTCCCCAGAC -3'

Sequencing Primer
(F):5'- GTGCTTGTATCTCTGTCCTTAGAC -3'
(R):5'- AGACAGCCTCACAATGAGTTAG -3'

Posted On

2014-06-23