Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Parp1'

588098

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?

Probably essential (E-score: 0.831) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180568924-180601254 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 180600212 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027777 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000027777

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496

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 null
Transcript: ENSMUST00000195560

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably 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	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGGACATTTTCACAGCC -3'
(R):5'- CAACAGTTGAGTCCCCAAGATCTC -3'

Sequencing Primer
(F):5'- AGGACATTTTCACAGCCCTTGTTAC -3'
(R):5'- ACATGCAATCTCCTGAAAGTAGG -3'

Posted On

2019-10-24