Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Parp1'

662950

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

068583-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180396456-180428564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180396690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 31 (D31G)

Ref Sequence

ENSEMBL: ENSMUSP00000027777 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027777
AA Change: D31G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027777
Gene: ENSMUSG00000026496
AA Change: D31G

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

probably benign
Transcript: ENSMUST00000194608
AA Change: D31G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142295
Gene: ENSMUSG00000026496
AA Change: D31G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,438,775 (GRCm39)	L869*	probably null	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Esrrg	A	T	1: 187,933,205 (GRCm39)		probably benign	Het
Exoc2	A	C	13: 31,090,822 (GRCm39)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or5b97	A	G	19: 12,878,274 (GRCm39)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trf	A	T	9: 103,087,723 (GRCm39)	V677D	probably damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	probably damaging	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
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
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'- GGCATCAGTAATCTATCCTGAGC -3'
(R):5'- TAAGCGCAATGTCCCGGAAG -3'

Sequencing Primer
(F):5'- GAAACCGACACGTTAGC -3'
(R):5'- CCAATGGGCCTCAAGGAC -3'

Posted On

2021-03-08