Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Parp1'

253673

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

040459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.789) question?

Stock #

R2871 (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 (GRCm38)

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]

AlphaFold

no structure available at present

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: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 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
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	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
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	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
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	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
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
R2872: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
R8735:Parp1	UTSW	1	180569125	missense	probably benign	0.04
R8747:Parp1	UTSW	1	180594710	missense	probably damaging	1.00
R8782:Parp1	UTSW	1	180589562	missense	probably benign	0.01
R9243:Parp1	UTSW	1	180588115	missense	probably benign	0.30
R9268:Parp1	UTSW	1	180587944	missense	possibly damaging	0.95

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