Mutagenetix > Incidental Mutations

Incidental Mutation 'R7326:Parp1'

568855

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180568924-180601254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180569100 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 23 (K23E)

Ref Sequence

ENSEMBL: ENSMUSP00000027777 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027777
AA Change: K23E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: K23E

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: ENSMUST00000194434

SMART Domains

Protein: ENSMUSP00000141775
Gene: ENSMUSG00000026496

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194608
AA Change: K23E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142295
Gene: ENSMUSG00000026496
AA Change: K23E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	T	7: 139,978,545		probably null	Het
Abcb4	T	C	5: 8,934,226	V652A	probably benign	Het
Acvrl1	G	T	15: 101,141,072	V417L	probably damaging	Het
Add1	A	G	5: 34,619,371	R479G	probably benign	Het
Adgb	A	T	10: 10,400,574	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,846,870	S666T	probably benign	Het
Akap9	T	A	5: 4,045,930	D2268E	possibly damaging	Het
Amigo3	C	A	9: 108,054,066	H229Q	probably benign	Het
Ano6	G	C	15: 95,864,244	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,175,019	D180N	probably damaging	Het
Apc2	A	T	10: 80,311,740	D876V	probably damaging	Het
Apcdd1	T	A	18: 62,952,188	Y485*	probably null	Het
Aqp1	G	T	6: 55,336,851	D121Y	probably benign	Het
Bicd2	C	A	13: 49,369,609	R141S	probably benign	Het
Brpf3	C	A	17: 28,806,293	H113Q	probably benign	Het
Cacng2	A	T	15: 78,013,320	Y96*	probably null	Het
Catsperg1	G	T	7: 29,210,759	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,394,995	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,332,605	N516K	probably benign	Het
Ciita	G	A	16: 10,512,288	R812H	probably damaging	Het
Cldn3	T	A	5: 134,986,983	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,077,299	I512V	probably benign	Het
Col5a2	A	T	1: 45,442,867	D32E	unknown	Het
Coro7	A	G	16: 4,632,048	V616A	probably damaging	Het
Cyp4f18	T	C	8: 71,988,654	D494G	probably benign	Het
Ddx39	T	A	8: 83,722,471	V296E	probably benign	Het
Dgkg	A	T	16: 22,548,690	H593Q	probably damaging	Het
Dhx16	T	C	17: 35,886,160	L645P	probably damaging	Het
Dnah14	A	G	1: 181,598,403	M171V	probably benign	Het
Dnhd1	G	A	7: 105,720,930	V4521I	probably damaging	Het
Dok7	A	T	5: 35,064,522	M60L	probably benign	Het
Donson	A	T	16: 91,688,711	M1K	probably null	Het
Dsp	C	T	13: 38,192,883	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,692,043	T712A	probably damaging	Het
Eef2	A	G	10: 81,181,282	T708A	probably benign	Het
Epn3	G	A	11: 94,493,780	T289I	probably benign	Het
Fam171a1	C	T	2: 3,226,472	R881*	probably null	Het
Fam71a	G	A	1: 191,164,353	T31M	probably benign	Het
Fat2	T	A	11: 55,282,304	R2528W	probably damaging	Het
Fgfr1	T	G	8: 25,573,839	F707C	probably damaging	Het
Frem2	G	C	3: 53,654,753	P778A	probably damaging	Het
Ganc	A	G	2: 120,430,599	Y255C	probably damaging	Het
Ginm1	A	T	10: 7,777,850	Y65*	probably null	Het
Gm11559	T	A	11: 99,864,881	C119S	unknown	Het
Gnai1	T	A	5: 18,289,551	H188L		Het
H6pd	C	T	4: 149,996,350	A13T	probably benign	Het
Hist1h2be	T	C	13: 23,585,923	K12E	probably benign	Het
Hoxd12	A	T	2: 74,675,246	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,833,194	L242M	probably damaging	Het
Il9r	C	A	11: 32,194,389	V139L	possibly damaging	Het
Immt	A	G	6: 71,846,369	D68G	probably damaging	Het
Itsn2	A	G	12: 4,632,985	I304V	unknown	Het
Lgr4	G	A	2: 109,996,629	W159*	probably null	Het
Lin52	G	A	12: 84,457,954	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,719,453	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,456,778	R180S	possibly damaging	Het
Lrrc29	T	C	8: 105,312,898	D127G	probably damaging	Het
Lrrc36	A	T	8: 105,449,769	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,329,755	Q235L	unknown	Het
Maml2	A	G	9: 13,621,607	M706V		Het
Mc5r	G	T	18: 68,339,668	C366F	probably damaging	Het
Mlip	T	C	9: 77,164,842	R244G	probably benign	Het
Muc16	T	A	9: 18,585,013	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046	H73N	possibly damaging	Het
Nf1	A	G	11: 79,564,943	M565V	probably benign	Het
Nphp1	G	A	2: 127,761,217	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,564,026	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,800,409	N361Y	probably damaging	Het
Olfr1045	A	G	2: 86,198,573	Y60H	probably damaging	Het
Olfr1309	A	T	2: 111,983,327	L249*	probably null	Het
Olfr308	A	G	7: 86,321,574	I126T	probably damaging	Het
Olfr461	G	T	6: 40,544,895	A28E	probably damaging	Het
Olfr518	A	T	7: 108,880,816	H263Q	probably damaging	Het
Olfr836	A	G	9: 19,121,669	Y235C	probably benign	Het
Olfr993	A	T	2: 85,414,444	V145E	probably damaging	Het
Orc5	A	G	5: 22,523,584	F308L	probably benign	Het
Padi1	T	A	4: 140,832,404	Y54F	probably benign	Het
Pate1	A	T	9: 35,685,972	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,756,860	H2R	probably benign	Het
Pcnx2	G	A	8: 125,887,083	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,859,734	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,507,325	N254K	probably damaging	Het
Psd	A	G	19: 46,324,454	L159P	probably benign	Het
Ptprf	A	G	4: 118,231,669	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,937,633	S92T	probably benign	Het
Rabgef1	A	G	5: 130,187,351		probably benign	Het
Ralgapa1	C	A	12: 55,709,004	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,385,463	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989		probably benign	Het
Ryr2	T	A	13: 11,738,194	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,439,717	L13P	unknown	Het
Sppl3	C	A	5: 115,082,335	T102K	probably damaging	Het
Srgap2	A	T	1: 131,291,613	Y264*	probably null	Het
Stxbp2	T	C	8: 3,641,151	M465T		Het
Sumf2	A	G	5: 129,862,710	K305R	probably benign	Het
Susd2	T	A	10: 75,642,565	Y59F	probably benign	Het
Taco1	T	C	11: 106,072,617	V198A	probably benign	Het
Tas2r136	A	T	6: 132,777,906	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,184,898	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,564,059	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,617,800	Y457*	probably null	Het
Ttc38	A	G	15: 85,852,861	T316A	probably benign	Het
Ubqln4	T	A	3: 88,555,910	N127K	probably benign	Het
Wdr91	A	T	6: 34,904,626	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,302,755	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,430,209	C140R	probably damaging	Het
Zfp266	T	C	9: 20,502,095	T90A	probably benign	Het
Zfp407	A	T	18: 84,559,042	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,638,277	S135G	probably benign	Het
Zscan29	A	T	2: 121,160,988	I773N	probably damaging	Het
Zswim5	T	A	4: 116,980,834	V787E	possibly 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	unclassified	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	intron	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
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
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'- CATCAGTAATCTATCCTGAGCGG -3'
(R):5'- TGCAGGGTAAGCGCAATGTC -3'

Sequencing Primer
(F):5'- GGGAAACCGACACGTTA -3'
(R):5'- TAAGCGCAATGTCCCGGAAG -3'

Posted On

2019-09-13