Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Parp3'

371747

Institutional Source

Beutler Lab

Gene Symbol

Parp3

Ensembl Gene

ENSMUSG00000023249

Gene Name

poly (ADP-ribose) polymerase family, member 3

Synonyms

A930002C11Rik, PARP-3, Adprt3, Adprtl3

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106347521-106354148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106350308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 343 (L343H)

Ref Sequence

ENSEMBL: ENSMUSP00000149572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000125850] [ENSMUST00000214682] [ENSMUST00000156426]

AlphaFold

Q3ULW8

Predicted Effect

probably benign
Transcript: ENSMUST00000047721

SMART Domains

Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
low complexity region	47	57	N/A	INTRINSIC
coiled coil region	61	102	N/A	INTRINSIC
WD40	135	174	1.15e-4	SMART
WD40	177	227	3.09e-5	SMART
WD40	230	269	2.42e-7	SMART
WD40	272	311	9.24e-4	SMART
WD40	313	351	2.4e-2	SMART
WD40	354	404	4.6e0	SMART
Blast:WD40	412	451	1e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000067218
AA Change: L394H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: L394H

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	176	315	8.7e-39	PFAM
Pfam:PARP	317	528	7.1e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112479
AA Change: L399H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: L399H

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	182	319	1.3e-42	PFAM
Pfam:PARP	322	533	7.3e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123464

Predicted Effect

probably damaging
Transcript: ENSMUST00000123555
AA Change: L394H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: L394H

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	176	315	8.7e-39	PFAM
Pfam:PARP	317	528	7.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125630

Predicted Effect

probably benign
Transcript: ENSMUST00000125850

SMART Domains

Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127400

Predicted Effect

probably damaging
Transcript: ENSMUST00000214682
AA Change: L343H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217303

Predicted Effect

probably benign
Transcript: ENSMUST00000156426

SMART Domains

Protein: ENSMUSP00000117329
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
PDB:4L7U\|A	179	202	6e-7	PDB
SCOP:d1a26_1	182	202	5e-3	SMART

Meta Mutation Damage Score

0.9107

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 85,974,166 (GRCm39)	T161K	probably benign	Het
Actn3	G	A	19: 4,914,539 (GRCm39)	R530W	probably damaging	Het
Alg11	C	T	8: 22,558,026 (GRCm39)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm39)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,886,364 (GRCm39)	H1166R	probably benign	Het
Aspm	T	A	1: 139,398,269 (GRCm39)	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,975,815 (GRCm39)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,339,251 (GRCm39)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,037,009 (GRCm39)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,827,723 (GRCm39)	I165V	probably benign	Het
Camta1	T	A	4: 151,228,864 (GRCm39)	Q656L	probably benign	Het
Casp14	A	T	10: 78,549,178 (GRCm39)	L256*	probably null	Het
Cdh23	G	T	10: 60,255,556 (GRCm39)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,989,016 (GRCm39)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,989,015 (GRCm39)	W1589*	probably null	Het
Cldn19	A	G	4: 119,112,951 (GRCm39)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,631,949 (GRCm39)	S436P	probably benign	Het
Emc10	A	C	7: 44,142,051 (GRCm39)	V124G	probably damaging	Het
Enam	A	T	5: 88,650,885 (GRCm39)	D723V	probably benign	Het
Eps8	C	A	6: 137,504,128 (GRCm39)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,263,253 (GRCm39)	D486N	probably damaging	Het
Fasn	T	C	11: 120,703,885 (GRCm39)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,169,844 (GRCm39)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,168,602 (GRCm39)	K30R	probably null	Het
Flot2	T	A	11: 77,948,339 (GRCm39)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,779,739 (GRCm39)	I162L	probably benign	Het
Fsip2	A	T	2: 82,815,815 (GRCm39)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,858,154 (GRCm39)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,811,893 (GRCm39)	R443G	probably benign	Het
Gas8	C	T	8: 124,257,753 (GRCm39)	T400M	probably benign	Het
Gfap	T	C	11: 102,785,214 (GRCm39)	Y254C	probably damaging	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,740,349 (GRCm39)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10787	G	A	10: 76,857,841 (GRCm39)		noncoding transcript	Het
Gm1123	T	A	9: 98,900,622 (GRCm39)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,655,079 (GRCm39)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,577,164 (GRCm39)		probably null	Het
Gphn	G	A	12: 78,569,729 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,823 (GRCm39)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,765,596 (GRCm39)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,248,131 (GRCm39)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 105,680,627 (GRCm39)		noncoding transcript	Het
Helb	A	G	10: 119,920,763 (GRCm39)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,895,778 (GRCm39)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,366,547 (GRCm39)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,449,676 (GRCm39)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,759,775 (GRCm39)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,481,715 (GRCm39)	Y144S	possibly damaging	Het
Layn	C	T	9: 50,968,682 (GRCm39)	V354M	probably damaging	Het
Lrba	G	A	3: 86,526,816 (GRCm39)		probably null	Het
Lrp8	T	A	4: 107,727,234 (GRCm39)	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,937,575 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Myo18b	A	C	5: 113,021,895 (GRCm39)	V499G	probably benign	Het
Nbea	T	C	3: 55,618,091 (GRCm39)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,211,552 (GRCm39)	V160I	probably benign	Het
Nup210	G	A	6: 91,008,650 (GRCm39)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,277,330 (GRCm39)	D121A	probably damaging	Het
P3h3	G	T	6: 124,827,600 (GRCm39)	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,442,723 (GRCm39)	F238I	probably damaging	Het
Pcdh18	A	C	3: 49,699,117 (GRCm39)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 80,008,308 (GRCm39)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,452 (GRCm39)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,130,700 (GRCm39)	V500A	probably benign	Het
Pramel29	T	C	4: 143,935,144 (GRCm39)	K199R	probably damaging	Het
Prkg2	A	T	5: 99,129,002 (GRCm39)	D311E	probably benign	Het
Prss42	T	C	9: 110,628,369 (GRCm39)	L171P	probably damaging	Het
Pth2	T	A	7: 44,830,767 (GRCm39)	L17H	probably damaging	Het
Reln	A	T	5: 22,223,844 (GRCm39)		probably null	Het
Rmi2	G	T	16: 10,657,701 (GRCm39)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,179,831 (GRCm39)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,168,198 (GRCm39)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,682,294 (GRCm39)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,105,390 (GRCm39)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,400 (GRCm39)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Slc30a6	T	C	17: 74,712,716 (GRCm39)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,883,449 (GRCm39)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,560,615 (GRCm39)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,032,528 (GRCm39)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,523,581 (GRCm39)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,517,409 (GRCm39)	V770A	probably benign	Het
Trim42	G	A	9: 97,244,982 (GRCm39)	P606L	probably benign	Het
Trim45	A	T	3: 100,832,804 (GRCm39)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,433,947 (GRCm39)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Tube1	A	G	10: 39,020,842 (GRCm39)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,770,424 (GRCm39)		probably null	Het
Ubxn11	T	A	4: 133,836,919 (GRCm39)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,418,977 (GRCm39)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,510,353 (GRCm39)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,685,733 (GRCm39)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 41,785,285 (GRCm39)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,313,682 (GRCm39)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,198,537 (GRCm39)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,228,183 (GRCm39)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,143,687 (GRCm39)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm39)	S362R	probably damaging	Het
Zfp593os	A	G	4: 133,972,587 (GRCm39)		probably benign	Het

Other mutations in Parp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Parp3	APN	9	106,348,586 (GRCm39)	missense	probably benign
IGL00827:Parp3	APN	9	106,351,605 (GRCm39)	missense	probably benign	0.17
IGL02683:Parp3	APN	9	106,350,384 (GRCm39)	missense	possibly damaging	0.84
R0050:Parp3	UTSW	9	106,348,600 (GRCm39)	missense	possibly damaging	0.81
R0110:Parp3	UTSW	9	106,348,995 (GRCm39)	missense	possibly damaging	0.81
R0320:Parp3	UTSW	9	106,353,011 (GRCm39)	missense	possibly damaging	0.76
R0510:Parp3	UTSW	9	106,348,995 (GRCm39)	missense	possibly damaging	0.81
R0989:Parp3	UTSW	9	106,350,281 (GRCm39)	splice site	probably null
R1170:Parp3	UTSW	9	106,353,204 (GRCm39)	intron	probably benign
R1919:Parp3	UTSW	9	106,352,316 (GRCm39)	missense	possibly damaging	0.92
R1935:Parp3	UTSW	9	106,351,931 (GRCm39)	missense	probably damaging	1.00
R1936:Parp3	UTSW	9	106,351,931 (GRCm39)	missense	probably damaging	1.00
R1958:Parp3	UTSW	9	106,352,021 (GRCm39)	splice site	probably null
R2188:Parp3	UTSW	9	106,353,051 (GRCm39)	missense	probably damaging	0.99
R2919:Parp3	UTSW	9	106,350,924 (GRCm39)	missense	possibly damaging	0.84
R3014:Parp3	UTSW	9	106,348,514 (GRCm39)	missense	possibly damaging	0.66
R3429:Parp3	UTSW	9	106,351,922 (GRCm39)	missense	probably damaging	0.99
R3430:Parp3	UTSW	9	106,351,922 (GRCm39)	missense	probably damaging	0.99
R3618:Parp3	UTSW	9	106,352,262 (GRCm39)	missense	possibly damaging	0.81
R3980:Parp3	UTSW	9	106,351,267 (GRCm39)	missense	probably damaging	1.00
R5617:Parp3	UTSW	9	106,351,704 (GRCm39)	missense	possibly damaging	0.75
R6015:Parp3	UTSW	9	106,351,481 (GRCm39)	missense	possibly damaging	0.72
R6591:Parp3	UTSW	9	106,350,891 (GRCm39)	missense	probably benign
R6691:Parp3	UTSW	9	106,350,891 (GRCm39)	missense	probably benign
R7403:Parp3	UTSW	9	106,352,052 (GRCm39)	missense	probably benign	0.35
R7612:Parp3	UTSW	9	106,351,393 (GRCm39)	missense	probably benign	0.03
R8330:Parp3	UTSW	9	106,352,069 (GRCm39)	critical splice acceptor site	probably null
R8396:Parp3	UTSW	9	106,351,447 (GRCm39)	missense	probably benign	0.00
R8733:Parp3	UTSW	9	106,353,150 (GRCm39)	missense	probably benign	0.01
R9023:Parp3	UTSW	9	106,348,490 (GRCm39)	missense	probably damaging	1.00
R9231:Parp3	UTSW	9	106,350,891 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGTGCTTCTTCAGAGTCC -3'
(R):5'- TTCCAGGTCAAGCGTATGC -3'

Sequencing Primer
(F):5'- TGCTTCTTCAGAGTCCCGGAG -3'
(R):5'- TCAAGCGTATGCCAGGGAC -3'

Posted On

2016-03-01