Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Parp1'

546501

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

045135-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180396456-180428564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180425817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 849 (K849N)

Ref Sequence

ENSEMBL: ENSMUSP00000027777 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027777
AA Change: K849N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: K849N

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

probably benign
Transcript: ENSMUST00000195560

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	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
R6974:Parp1	UTSW	1	180,417,071 (GRCm39)	nonsense	probably null
R6996:Parp1	UTSW	1	180,414,936 (GRCm39)	missense	possibly damaging	0.46
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'- ATAAGTGGAGCCTTGGGACAC -3'
(R):5'- GTAGGCTGGACTCTCAAAGC -3'

Sequencing Primer
(F):5'- GGACACGTGCATTGTCATC -3'
(R):5'- TGGACTCTCAAAGCACCGG -3'

Posted On

2019-05-13