Mutagenetix > Incidental Mutations

Incidental Mutation 'R2872:Parp1'

253838

Institutional Source

Beutler Lab

Gene Symbol

Parp1

Ensembl Gene

ENSMUSG00000026496

Gene Name

poly (ADP-ribose) polymerase family, member 1

Synonyms

Adprp, 5830444G22Rik, PARP, sPARP-1, parp-1, Adprt1

MMRRC Submission

040460-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180568924-180601254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180573665 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 45 (D45G)

Ref Sequence

ENSEMBL: ENSMUSP00000142295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027777] [ENSMUST00000194434] [ENSMUST00000194608]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027777
AA Change: D45G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: D45G

Domain	Start	End	E-Value	Type
zf-PARP	12	90	4.73e-36	SMART
zf-PARP	116	200	3.99e-34	SMART
low complexity region	221	234	N/A	INTRINSIC
PADR1	280	333	1.48e-28	SMART
low complexity region	359	378	N/A	INTRINSIC
BRCT	388	467	9.62e-7	SMART
low complexity region	494	512	N/A	INTRINSIC
WGR	553	633	2.36e-31	SMART
Pfam:PARP_reg	663	794	4e-54	PFAM
Pfam:PARP	797	1007	6.4e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194434
AA Change: D3G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141775
Gene: ENSMUSG00000026496
AA Change: D3G

Domain	Start	End	E-Value	Type
Pfam:zf-PARP	1	48	3.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194608
AA Change: D45G

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

SMART Domains

Protein: ENSMUSP00000142295
Gene: ENSMUSG00000026496
AA Change: D45G

Domain	Start	End	E-Value	Type
zf-PARP	12	68	2.9e-20	SMART

Meta Mutation Damage Score

0.8362

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.5%
20x: 80.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous ablation of this gene may lead to skin hyperplasia, extreme sensitivity to radiation and alkylating agents, abnormal response to xenobiotics and endogenous compounds, reduced noise-induced hearing loss, altered susceptibility to neurotoxicity,or protection against renal ischemic injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Ak8	T	C	2: 28,742,720	I317T	possibly damaging	Het
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp12a	A	G	14: 56,386,950	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Col12a1	A	T	9: 79,699,549	F531I	probably damaging	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Ctnnd1	C	T	2: 84,620,888	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gpr156	T	A	16: 37,992,223	V307D	probably damaging	Het
Gpr35	G	A	1: 92,983,126	V187I	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Hdac10	G	T	15: 89,125,856	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ick	A	T	9: 78,140,100		probably null	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,322,223	I340V	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	T	C	8: 71,290,966	Y224H	probably benign	Het
Nlrc3	T	C	16: 3,957,326	D774G	possibly damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Nox3	T	C	17: 3,682,916	H240R	probably damaging	Het
Nsun2	A	G	13: 69,629,682	T425A	probably damaging	Het
Olfr1510	T	G	14: 52,410,861	T4P	probably benign	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr654	T	C	7: 104,588,493	S230P	possibly damaging	Het
Olfr99	A	G	17: 37,279,976	V148A	possibly damaging	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,968,779		probably null	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,038,164	V1332I	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Plekhg1	T	G	10: 3,963,982	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Polg2	A	G	11: 106,775,425		probably null	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Rapgef6	T	A	11: 54,661,175	F956L	probably damaging	Het
Rasl12	A	G	9: 65,408,323	N83S	probably benign	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,137,883	W792*	probably null	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Slc6a9	T	A	4: 117,849,381	M1K	probably null	Het
Smpdl3a	T	A	10: 57,802,530	F143Y	possibly damaging	Het
Spsb4	G	T	9: 96,996,018	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,826,428	F137I	probably benign	Het
Tgm7	G	A	2: 121,109,693		probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Tpd52	A	T	3: 9,003,406	Y16*	probably null	Het
Trpa1	A	G	1: 14,887,620	C705R	probably damaging	Het
Ttn	A	G	2: 76,750,851	S23233P	probably damaging	Het
Uevld	T	C	7: 46,947,945	D154G	probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Zfp292	G	A	4: 34,808,595	T1483M	probably damaging	Het

Other mutations in Parp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Parp1	APN	1	180589580	missense	probably damaging	0.99
IGL01316:Parp1	APN	1	180592935	splice site	probably benign
IGL01915:Parp1	APN	1	180598342	missense	probably damaging	1.00
IGL02016:Parp1	APN	1	180598951	splice site	probably null
IGL03328:Parp1	APN	1	180599590	splice site	probably benign
IGL03348:Parp1	APN	1	180577707	splice site	probably benign
IGL03368:Parp1	APN	1	180580622	missense	probably benign	0.01
R0541:Parp1	UTSW	1	180599051	missense	probably benign	0.05
R0648:Parp1	UTSW	1	180600440	splice site	probably benign
R1326:Parp1	UTSW	1	180600458	missense	probably damaging	1.00
R1421:Parp1	UTSW	1	180600088	splice site	probably benign
R1438:Parp1	UTSW	1	180591242	missense	probably benign	0.08
R1781:Parp1	UTSW	1	180588013	missense	probably benign	0.04
R1800:Parp1	UTSW	1	180600526	splice site	probably null
R1900:Parp1	UTSW	1	180597339	missense	probably damaging	0.98
R1903:Parp1	UTSW	1	180588670	missense	probably damaging	1.00
R2869:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2869:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2871:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2871:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2872:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2873:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R2874:Parp1	UTSW	1	180573665	missense	probably damaging	1.00
R4342:Parp1	UTSW	1	180587329	missense	probably benign	0.00
R4510:Parp1	UTSW	1	180591276	missense	possibly damaging	0.59
R4511:Parp1	UTSW	1	180591276	missense	possibly damaging	0.59
R4529:Parp1	UTSW	1	180591312	missense	probably damaging	1.00
R4740:Parp1	UTSW	1	180589468	missense	probably damaging	0.99
R4876:Parp1	UTSW	1	180569035	start codon destroyed	probably null	1.00
R6666:Parp1	UTSW	1	180585951	missense	probably benign
R6766:Parp1	UTSW	1	180598362	missense	probably damaging	1.00
R6918:Parp1	UTSW	1	180588670	missense	possibly damaging	0.46
R6974:Parp1	UTSW	1	180589506	nonsense	probably null
R6996:Parp1	UTSW	1	180587371	missense	possibly damaging	0.46
R7034:Parp1	UTSW	1	180598252	missense	possibly damaging	0.94
R7036:Parp1	UTSW	1	180598252	missense	possibly damaging	0.94
R7068:Parp1	UTSW	1	180588668	missense	probably damaging	1.00
R7156:Parp1	UTSW	1	180599064	missense	possibly damaging	0.91
R7326:Parp1	UTSW	1	180569100	missense	possibly damaging	0.94
R7603:Parp1	UTSW	1	180600212	critical splice donor site	probably null
R7733:Parp1	UTSW	1	180600212	critical splice donor site	probably null
R7772:Parp1	UTSW	1	180589398	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TACCCAGGATGAGAAGCCAG -3'
(R):5'- TCCATGCAAGCTTAAAGTCTTCC -3'

Sequencing Primer
(F):5'- AGAAGCTGTTTCTCATCCATTTG -3'
(R):5'- AGAGAGAGCGCTTGAACCCC -3'

Posted On

2014-12-04