Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00159:Parp3'

1280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp3

Ensembl Gene

ENSMUSG00000023249

Gene Name

poly (ADP-ribose) polymerase family, member 3

Synonyms

A930002C11Rik, PARP-3, Adprt3, Adprtl3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

106470322-106476949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106471387 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 478 (I478T)

Ref Sequence

ENSEMBL: ENSMUSP00000123054 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067218
AA Change: I478T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: I478T

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 benign
Transcript: ENSMUST00000112479
AA Change: I483T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: I483T

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 benign
Transcript: ENSMUST00000123555
AA Change: I478T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: I478T

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 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: ENSMUST00000139362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145396

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214682

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047		probably null	Het
Axin1	A	T	17: 26,142,805	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451	E718*	probably null	Het
Cdc123	G	T	2: 5,804,935	Q222K	probably benign	Het
Clip1	A	C	5: 123,603,654	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622	Q81*	probably null	Het
Gspt1	T	C	16: 11,222,612	M610V	probably damaging	Het
Herc1	A	G	9: 66,437,682	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055		probably benign	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Lrrk2	A	G	15: 91,747,799	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131	T465K	probably benign	Het
Nwd1	A	T	8: 72,671,077	D648V	probably damaging	Het
Olfr272	T	G	4: 52,911,618	M59L	possibly damaging	Het
Olfr520	G	A	7: 99,735,317	R58H	probably benign	Het
Otof	T	C	5: 30,375,904	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397	C285Y	probably damaging	Het
Pdzd2	C	T	15: 12,457,983	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475	D146N	probably benign	Het
Slc16a9	A	G	10: 70,282,699	R283G	probably benign	Het
Sptb	T	C	12: 76,621,331	D664G	probably benign	Het
Tmprss3	T	A	17: 31,195,008	D54V	probably damaging	Het
Ttc37	T	C	13: 76,143,278		probably null	Het
Tubd1	G	T	11: 86,565,729	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870	E545V	probably damaging	Het

Other mutations in Parp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Parp3	APN	9	106474406	missense	probably benign	0.17
IGL02683:Parp3	APN	9	106473185	missense	possibly damaging	0.84
R0050:Parp3	UTSW	9	106471401	missense	possibly damaging	0.81
R0110:Parp3	UTSW	9	106471796	missense	possibly damaging	0.81
R0320:Parp3	UTSW	9	106475812	missense	possibly damaging	0.76
R0510:Parp3	UTSW	9	106471796	missense	possibly damaging	0.81
R0989:Parp3	UTSW	9	106473082	splice site	probably null
R1170:Parp3	UTSW	9	106476005	intron	probably benign
R1919:Parp3	UTSW	9	106475117	missense	possibly damaging	0.92
R1935:Parp3	UTSW	9	106474732	missense	probably damaging	1.00
R1936:Parp3	UTSW	9	106474732	missense	probably damaging	1.00
R1958:Parp3	UTSW	9	106474822	splice site	probably null
R2188:Parp3	UTSW	9	106475852	missense	probably damaging	0.99
R2919:Parp3	UTSW	9	106473725	missense	possibly damaging	0.84
R3014:Parp3	UTSW	9	106471315	missense	possibly damaging	0.66
R3429:Parp3	UTSW	9	106474723	missense	probably damaging	0.99
R3430:Parp3	UTSW	9	106474723	missense	probably damaging	0.99
R3618:Parp3	UTSW	9	106475063	missense	possibly damaging	0.81
R3980:Parp3	UTSW	9	106474068	missense	probably damaging	1.00
R4840:Parp3	UTSW	9	106473109	missense	probably damaging	1.00
R5617:Parp3	UTSW	9	106474505	missense	possibly damaging	0.75
R6015:Parp3	UTSW	9	106474282	missense	possibly damaging	0.72
R6591:Parp3	UTSW	9	106473692	missense	probably benign
R6691:Parp3	UTSW	9	106473692	missense	probably benign
R7403:Parp3	UTSW	9	106474853	missense	probably benign	0.35
R7612:Parp3	UTSW	9	106474194	missense	probably benign	0.03
R8330:Parp3	UTSW	9	106474870	critical splice acceptor site	probably null
R8396:Parp3	UTSW	9	106474248	missense	probably benign	0.00
R8733:Parp3	UTSW	9	106475951	missense	probably benign	0.01

Posted On

2011-07-12