Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Parp1'

266643

Institutional Source

Beutler Lab

Gene Symbol

Parp1

Ensembl Gene

ENSMUSG00000026496

Gene Name

poly (ADP-ribose) polymerase family, member 1

Synonyms

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

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180396456-180428564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180401230 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Parp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Parp1	APN	1	180,417,145 (GRCm39)	missense	probably damaging	0.99
IGL01316:Parp1	APN	1	180,420,500 (GRCm39)	splice site	probably benign
IGL01915:Parp1	APN	1	180,425,907 (GRCm39)	missense	probably damaging	1.00
IGL02016:Parp1	APN	1	180,426,516 (GRCm39)	splice site	probably null
IGL03328:Parp1	APN	1	180,427,155 (GRCm39)	splice site	probably benign
IGL03348:Parp1	APN	1	180,405,272 (GRCm39)	splice site	probably benign
IGL03368:Parp1	APN	1	180,408,187 (GRCm39)	missense	probably benign	0.01
R0541:Parp1	UTSW	1	180,426,616 (GRCm39)	missense	probably benign	0.05
R0648:Parp1	UTSW	1	180,428,005 (GRCm39)	splice site	probably benign
R1326:Parp1	UTSW	1	180,428,023 (GRCm39)	missense	probably damaging	1.00
R1421:Parp1	UTSW	1	180,427,653 (GRCm39)	splice site	probably benign
R1438:Parp1	UTSW	1	180,418,807 (GRCm39)	missense	probably benign	0.08
R1781:Parp1	UTSW	1	180,415,578 (GRCm39)	missense	probably benign	0.04
R1800:Parp1	UTSW	1	180,428,091 (GRCm39)	splice site	probably null
R1900:Parp1	UTSW	1	180,424,904 (GRCm39)	missense	probably damaging	0.98
R1903:Parp1	UTSW	1	180,416,235 (GRCm39)	missense	probably damaging	1.00
R2869:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2869:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2871:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2871:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2872:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2873:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R2874:Parp1	UTSW	1	180,401,230 (GRCm39)	missense	probably damaging	1.00
R4342:Parp1	UTSW	1	180,414,894 (GRCm39)	missense	probably benign	0.00
R4510:Parp1	UTSW	1	180,418,841 (GRCm39)	missense	possibly damaging	0.59
R4511:Parp1	UTSW	1	180,418,841 (GRCm39)	missense	possibly damaging	0.59
R4529:Parp1	UTSW	1	180,418,877 (GRCm39)	missense	probably damaging	1.00
R4740:Parp1	UTSW	1	180,417,033 (GRCm39)	missense	probably damaging	0.99
R4876:Parp1	UTSW	1	180,396,600 (GRCm39)	start codon destroyed	probably null	1.00
R6666:Parp1	UTSW	1	180,413,516 (GRCm39)	missense	probably benign
R6766:Parp1	UTSW	1	180,425,927 (GRCm39)	missense	probably damaging	1.00
R6918:Parp1	UTSW	1	180,416,235 (GRCm39)	missense	possibly damaging	0.46
R6974:Parp1	UTSW	1	180,417,071 (GRCm39)	nonsense	probably null
R6996:Parp1	UTSW	1	180,414,936 (GRCm39)	missense	possibly damaging	0.46
R7034:Parp1	UTSW	1	180,425,817 (GRCm39)	missense	possibly damaging	0.94
R7036:Parp1	UTSW	1	180,425,817 (GRCm39)	missense	possibly damaging	0.94
R7068:Parp1	UTSW	1	180,416,233 (GRCm39)	missense	probably damaging	1.00
R7156:Parp1	UTSW	1	180,426,629 (GRCm39)	missense	possibly damaging	0.91
R7326:Parp1	UTSW	1	180,396,665 (GRCm39)	missense	possibly damaging	0.94
R7603:Parp1	UTSW	1	180,427,777 (GRCm39)	critical splice donor site	probably null
R7733:Parp1	UTSW	1	180,427,777 (GRCm39)	critical splice donor site	probably null
R7772:Parp1	UTSW	1	180,416,963 (GRCm39)	missense	possibly damaging	0.54
R8735:Parp1	UTSW	1	180,396,690 (GRCm39)	missense	probably benign	0.04
R8747:Parp1	UTSW	1	180,422,275 (GRCm39)	missense	probably damaging	1.00
R8782:Parp1	UTSW	1	180,417,127 (GRCm39)	missense	probably benign	0.01
R9243:Parp1	UTSW	1	180,415,680 (GRCm39)	missense	probably benign	0.30
R9268:Parp1	UTSW	1	180,415,509 (GRCm39)	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

2015-02-18