Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Parg'

20539

Institutional Source

Beutler Lab

Gene Symbol

Parg

Ensembl Gene

ENSMUSG00000021911

Gene Name

poly (ADP-ribose) glycohydrolase

Synonyms

MMRRC Submission

038398-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0112 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

32201949-32297550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32202433 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 63 (A63E)

Ref Sequence

ENSEMBL: ENSMUSP00000127362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000022470] [ENSMUST00000163350] [ENSMUST00000163379] [ENSMUST00000164137] [ENSMUST00000170129] [ENSMUST00000170331] [ENSMUST00000170840] [ENSMUST00000171279] [ENSMUST00000226683]

Predicted Effect

probably benign
Transcript: ENSMUST00000013845

SMART Domains

Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
Pfam:Tim17	76	196	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022470
AA Change: A63E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: A63E

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

probably benign
Transcript: ENSMUST00000163350
AA Change: A63E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: A63E

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 benign
Transcript: ENSMUST00000163379

SMART Domains

Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164137
AA Change: A63E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168813

Predicted Effect

probably damaging
Transcript: ENSMUST00000170129
AA Change: A63E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170233

Predicted Effect

probably benign
Transcript: ENSMUST00000170331

SMART Domains

Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000172052

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226683

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,173,761	K577R	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,351,447	Y384*	probably null	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Slco1b2	A	T	6: 141,671,111	Y390F	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trf	A	G	9: 103,226,956		probably benign	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,253,272	M618K	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		probably benign	Het

Other mutations in Parg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Parg	APN	14	32296185	splice site	probably benign
IGL01879:Parg	APN	14	32271622	splice site	probably benign
IGL02391:Parg	APN	14	32262681	splice site	probably null
IGL02451:Parg	APN	14	32242229	missense	probably damaging	1.00
IGL02598:Parg	APN	14	32214324	missense	probably damaging	1.00
IGL02899:Parg	APN	14	32238574	missense	probably damaging	1.00
R0167:Parg	UTSW	14	32217736	critical splice donor site	probably null
R0514:Parg	UTSW	14	32254560	missense	possibly damaging	0.69
R0834:Parg	UTSW	14	32214554	splice site	probably benign
R1140:Parg	UTSW	14	32296243	missense	probably benign	0.01
R1480:Parg	UTSW	14	32209628	nonsense	probably null
R1611:Parg	UTSW	14	32238570	missense	probably damaging	1.00
R1912:Parg	UTSW	14	32210540	missense	probably damaging	0.99
R1916:Parg	UTSW	14	32208227	splice site	probably benign
R1983:Parg	UTSW	14	32217696	missense	probably damaging	1.00
R2007:Parg	UTSW	14	32210574	missense	possibly damaging	0.87
R2275:Parg	UTSW	14	32295238	missense	probably damaging	0.98
R2942:Parg	UTSW	14	32209337	missense	probably damaging	1.00
R4206:Parg	UTSW	14	32254536	missense	probably benign	0.07
R4482:Parg	UTSW	14	32262774	missense	probably damaging	1.00
R4512:Parg	UTSW	14	32262736	missense	probably damaging	1.00
R4519:Parg	UTSW	14	32209635	missense	probably damaging	1.00
R4611:Parg	UTSW	14	32274864	missense	probably damaging	1.00
R4831:Parg	UTSW	14	32202451	missense	probably benign	0.00
R4876:Parg	UTSW	14	32271668	missense	probably damaging	0.98
R5298:Parg	UTSW	14	32202253	missense	probably damaging	1.00
R5606:Parg	UTSW	14	32262736	missense	probably damaging	1.00
R5782:Parg	UTSW	14	32274905	nonsense	probably null
R5878:Parg	UTSW	14	32217662	missense	possibly damaging	0.85
R6373:Parg	UTSW	14	32209497	splice site	probably null
R6436:Parg	UTSW	14	32271677	missense	probably damaging	1.00
R6530:Parg	UTSW	14	32209199	missense	probably damaging	1.00
R7285:Parg	UTSW	14	32210508	missense	probably damaging	0.98
R7348:Parg	UTSW	14	32250079	missense	possibly damaging	0.82
R7455:Parg	UTSW	14	32209475	missense	probably benign
R7780:Parg	UTSW	14	32208801	missense	possibly damaging	0.94
R7887:Parg	UTSW	14	32217662	missense	possibly damaging	0.85
R7968:Parg	UTSW	14	32214370	missense	possibly damaging	0.57
R8153:Parg	UTSW	14	32262820	missense	probably damaging	1.00
R8494:Parg	UTSW	14	32209021	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGAAGTATCGCACTTCCGCTTTACG -3'
(R):5'- AGGTCCGGTAACTACCTGTCCAAC -3'

Sequencing Primer
(F):5'- TAGTGAATGAGGCTCTCCGC -3'
(R):5'- CTGGTCCTCACACTGAAACA -3'

Posted On

2013-04-11