Mutagenetix > Incidental Mutation

Incidental Mutation 'R2942:Parg'

255200

Institutional Source

Beutler Lab

Gene Symbol

Parg

Ensembl Gene

ENSMUSG00000021911

Gene Name

poly (ADP-ribose) glycohydrolase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31923906-32019507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31931294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 305 (K305E)

Ref Sequence

ENSEMBL: ENSMUSP00000154704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022470] [ENSMUST00000163350] [ENSMUST00000164137] [ENSMUST00000170129] [ENSMUST00000170840] [ENSMUST00000171279]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022470
AA Change: K305E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: K305E

Domain	Start	End	E-Value	Type
low complexity region	190	204	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:PARG_cat	574	902	2.5e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163350
AA Change: K305E

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: K305E

Domain	Start	End	E-Value	Type
low complexity region	190	204	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:PARG_cat	570	905	5.1e-134	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164137
AA Change: K305E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000170129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170637

Predicted Effect

probably benign
Transcript: ENSMUST00000170840

SMART Domains

Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
Pfam:PARG_cat	117	452	9.7e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171279

SMART Domains

Protein: ENSMUSP00000128629
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for one allele of this gene are hypersensitive to alkylating agents and ionizing radiation and susceptible to streptozotocin induced diabetes and endotoxic shock. Mice homozygous for a second allele display embryonic lethality and fail tohatch from the zona pellucida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	T	1: 58,376,540 (GRCm39)	R907L	probably benign	Het
Fat4	A	G	3: 39,036,485 (GRCm39)	N3379S	probably damaging	Het
Kcnv1	A	G	15: 44,972,581 (GRCm39)	F434S	probably damaging	Het
Phlpp1	G	A	1: 106,100,502 (GRCm39)	V257I	probably benign	Het
Pth2r	G	A	1: 65,427,635 (GRCm39)	R436K	probably benign	Het
Srsf9	T	C	5: 115,470,752 (GRCm39)	Y215H	probably damaging	Het
Tjp1	A	G	7: 64,967,754 (GRCm39)	V798A	probably damaging	Het
Trmt13	A	T	3: 116,379,421 (GRCm39)	I242N	probably damaging	Het
Vmn1r31	G	A	6: 58,449,583 (GRCm39)	T94I	possibly damaging	Het

Other mutations in Parg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Parg	APN	14	32,018,142 (GRCm39)	splice site	probably benign
IGL01879:Parg	APN	14	31,993,579 (GRCm39)	splice site	probably benign
IGL02391:Parg	APN	14	31,984,638 (GRCm39)	splice site	probably null
IGL02451:Parg	APN	14	31,964,186 (GRCm39)	missense	probably damaging	1.00
IGL02598:Parg	APN	14	31,936,281 (GRCm39)	missense	probably damaging	1.00
IGL02899:Parg	APN	14	31,960,531 (GRCm39)	missense	probably damaging	1.00
R0112:Parg	UTSW	14	31,924,390 (GRCm39)	missense	probably damaging	1.00
R0167:Parg	UTSW	14	31,939,693 (GRCm39)	critical splice donor site	probably null
R0514:Parg	UTSW	14	31,976,517 (GRCm39)	missense	possibly damaging	0.69
R0834:Parg	UTSW	14	31,936,511 (GRCm39)	splice site	probably benign
R1140:Parg	UTSW	14	32,018,200 (GRCm39)	missense	probably benign	0.01
R1480:Parg	UTSW	14	31,931,585 (GRCm39)	nonsense	probably null
R1611:Parg	UTSW	14	31,960,527 (GRCm39)	missense	probably damaging	1.00
R1912:Parg	UTSW	14	31,932,497 (GRCm39)	missense	probably damaging	0.99
R1916:Parg	UTSW	14	31,930,184 (GRCm39)	splice site	probably benign
R1983:Parg	UTSW	14	31,939,653 (GRCm39)	missense	probably damaging	1.00
R2007:Parg	UTSW	14	31,932,531 (GRCm39)	missense	possibly damaging	0.87
R2275:Parg	UTSW	14	32,017,195 (GRCm39)	missense	probably damaging	0.98
R4206:Parg	UTSW	14	31,976,493 (GRCm39)	missense	probably benign	0.07
R4482:Parg	UTSW	14	31,984,731 (GRCm39)	missense	probably damaging	1.00
R4512:Parg	UTSW	14	31,984,693 (GRCm39)	missense	probably damaging	1.00
R4519:Parg	UTSW	14	31,931,592 (GRCm39)	missense	probably damaging	1.00
R4611:Parg	UTSW	14	31,996,821 (GRCm39)	missense	probably damaging	1.00
R4831:Parg	UTSW	14	31,924,408 (GRCm39)	missense	probably benign	0.00
R4876:Parg	UTSW	14	31,993,625 (GRCm39)	missense	probably damaging	0.98
R5298:Parg	UTSW	14	31,924,210 (GRCm39)	missense	probably damaging	1.00
R5606:Parg	UTSW	14	31,984,693 (GRCm39)	missense	probably damaging	1.00
R5782:Parg	UTSW	14	31,996,862 (GRCm39)	nonsense	probably null
R5878:Parg	UTSW	14	31,939,619 (GRCm39)	missense	possibly damaging	0.85
R6373:Parg	UTSW	14	31,931,454 (GRCm39)	splice site	probably null
R6436:Parg	UTSW	14	31,993,634 (GRCm39)	missense	probably damaging	1.00
R6530:Parg	UTSW	14	31,931,156 (GRCm39)	missense	probably damaging	1.00
R7285:Parg	UTSW	14	31,932,465 (GRCm39)	missense	probably damaging	0.98
R7348:Parg	UTSW	14	31,972,036 (GRCm39)	missense	possibly damaging	0.82
R7455:Parg	UTSW	14	31,931,432 (GRCm39)	missense	probably benign
R7780:Parg	UTSW	14	31,930,758 (GRCm39)	missense	possibly damaging	0.94
R7887:Parg	UTSW	14	31,939,619 (GRCm39)	missense	possibly damaging	0.85
R7968:Parg	UTSW	14	31,936,327 (GRCm39)	missense	possibly damaging	0.57
R8153:Parg	UTSW	14	31,984,777 (GRCm39)	missense	probably damaging	1.00
R8494:Parg	UTSW	14	31,930,978 (GRCm39)	missense	probably benign	0.04
R8717:Parg	UTSW	14	31,932,492 (GRCm39)	missense	probably benign	0.00
R8781:Parg	UTSW	14	31,936,400 (GRCm39)	missense	probably benign	0.33
R8826:Parg	UTSW	14	31,931,175 (GRCm39)	missense	possibly damaging	0.70
R9357:Parg	UTSW	14	31,996,874 (GRCm39)	missense	probably damaging	1.00
R9423:Parg	UTSW	14	31,939,662 (GRCm39)	missense	probably damaging	1.00
R9617:Parg	UTSW	14	31,960,569 (GRCm39)	missense	probably benign	0.01
R9662:Parg	UTSW	14	31,971,976 (GRCm39)	missense	probably damaging	1.00
R9666:Parg	UTSW	14	31,964,294 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACAGGCTGTCAACAGGAG -3'
(R):5'- GGCATTTAAGTCACTGGTCCC -3'

Sequencing Primer
(F):5'- CAGGAGGAGGTGGATGTGCTAC -3'
(R):5'- CTCCTTCAAATTGGAAATGCAATC -3'

Posted On

2014-12-29