Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00827:Parp3'

12911

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00827

Quality Score

Status

Chromosome

Chromosomal Location

106347521-106354148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106351605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 208 (M208L)

Ref Sequence

ENSEMBL: ENSMUSP00000108098 (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 benign
Transcript: ENSMUST00000067218
AA Change: M203L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249
AA Change: M203L

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: M208L

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249
AA Change: M208L

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: M203L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249
AA Change: M203L

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: ENSMUST00000145396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140029

Predicted Effect

probably benign
Transcript: ENSMUST00000214682
AA Change: M203L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

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

noncoding transcript
Transcript: ENSMUST00000217303

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,837,290 (GRCm39)	V265A	probably benign	Het
Ap3d1	A	T	10: 80,549,393 (GRCm39)	D803E	possibly damaging	Het
Camk1d	G	A	2: 5,315,884 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,339,283 (GRCm39)	K3075E	probably damaging	Het
Dnmt3l	T	C	10: 77,889,830 (GRCm39)	L229P	probably damaging	Het
Dntt	G	A	19: 41,028,262 (GRCm39)	G186D	probably benign	Het
Epdr1	A	G	13: 19,778,679 (GRCm39)	I139T	possibly damaging	Het
Fam20a	A	T	11: 109,568,588 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,565 (GRCm39)	K313E	probably benign	Het
Hdac2	T	A	10: 36,873,110 (GRCm39)	C323S	probably benign	Het
Hsd3b5	G	A	3: 98,537,414 (GRCm39)	A34V	probably benign	Het
Lrrk2	A	T	15: 91,639,993 (GRCm39)	I1513F	probably damaging	Het
Ppp4r4	A	G	12: 103,545,335 (GRCm39)	T203A	probably benign	Het
Rims2	G	A	15: 39,335,755 (GRCm39)	G788D	probably damaging	Het
Slc4a4	T	G	5: 89,327,545 (GRCm39)	S626A	probably benign	Het
Steap4	A	G	5: 8,026,712 (GRCm39)	Y225C	probably damaging	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
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
R4840:Parp3	UTSW	9	106,350,308 (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

Posted On

2012-12-06