Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Parp1'

542323

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

045084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180396456-180428564 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 180417071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 618 (Y618*)

Ref Sequence

ENSEMBL: ENSMUSP00000027777 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027777
AA Change: Y618*

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: Y618*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Ap4b1	C	A	3: 103,720,601 (GRCm39)	Y90*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,742,864 (GRCm39)	T74M	probably benign	Het
Auts2	T	C	5: 131,469,437 (GRCm39)	T627A	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Ist1	A	T	8: 110,404,284 (GRCm39)	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 22,045,570 (GRCm39)	S133P	probably damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	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
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
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'- TTAAAGCTGCCCTTACGGAGG -3'
(R):5'- GGCATGAGTTATGTTTTCTTCCAAG -3'

Sequencing Primer
(F):5'- GAAGGCCTAACAGAGCAGAAGC -3'
(R):5'- CTCCCGAGTGCTGGGATTAAAG -3'

Posted On

2018-11-28