Mutagenetix > Incidental Mutations

Incidental Mutation 'R7348:Parg'

570383

Institutional Source

Beutler Lab

Gene Symbol

Parg

Ensembl Gene

ENSMUSG00000021911

Gene Name

poly (ADP-ribose) glycohydrolase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32201949-32297550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32250079 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 677 (R677Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022470 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022470
AA Change: R677Q

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: R677Q

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: R677Q

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: R677Q

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: ENSMUST00000170129

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170840
AA Change: R172Q

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911
AA Change: R172Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,866,159	R282C	probably damaging	Het
Adcy2	T	A	13: 68,734,675	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,817,766	I274N		Het
Adpgk	A	G	9: 59,313,786	I292V	probably benign	Het
Agtrap	G	T	4: 148,080,597	F124L	probably benign	Het
Ankrd26	A	G	6: 118,508,564	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 127,061,976	S933C	probably damaging	Het
Ap4e1	G	T	2: 127,061,977	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,212,652	T128S	possibly damaging	Het
Arih1	T	C	9: 59,486,058	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,978,826	F1034S	unknown	Het
Bmp6	T	C	13: 38,485,903	S388P	probably benign	Het
Ccdc39	A	G	3: 33,832,676	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,500,336	C150Y	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cln6	A	G	9: 62,849,176	S201G	probably benign	Het
Cntnap4	T	C	8: 112,665,277	Y125H	probably damaging	Het
Copa	A	G	1: 172,102,223	T286A	possibly damaging	Het
Cul9	A	T	17: 46,510,993	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,444,640	A490S	probably benign	Het
Cyp2t4	A	G	7: 27,157,251	I239V	probably benign	Het
E2f7	C	T	10: 110,780,975	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,615,135	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,616,439	M77R	probably benign	Het
Fhod3	A	G	18: 25,090,467	R957G	possibly damaging	Het
Gm17018	A	G	19: 45,572,466	Y111C	probably damaging	Het
H6pd	C	A	4: 149,983,902		probably null	Het
Haus5	G	T	7: 30,656,966	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Igf2r	A	G	17: 12,703,484	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,147,218	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561	H251L	probably damaging	Het
Mapre3	T	C	5: 30,861,829	Y6H	probably benign	Het
Mlh3	G	T	12: 85,267,441	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 47,335,409	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh1	C	A	11: 67,202,539	P152Q	probably damaging	Het
Myh6	A	T	14: 54,952,259	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,536,850	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,524,416	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,444,273	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1354	A	G	10: 78,917,562	T241A	probably damaging	Het
Olfr453	T	C	6: 42,744,856	L273S	possibly damaging	Het
Olfr488	T	C	7: 108,256,123	D5G	probably benign	Het
Olfr491	T	C	7: 108,317,713	V273A	possibly damaging	Het
Pcsk5	A	T	19: 17,456,818	C1395*	probably null	Het
Psd2	G	A	18: 35,980,336	S287N	possibly damaging	Het
Psd3	T	C	8: 67,790,931	N685S	possibly damaging	Het
Pygb	C	T	2: 150,786,983	T39M	probably benign	Het
Rbfox1	C	A	16: 7,408,024	Y351*	probably null	Het
Rftn1	A	G	17: 50,004,323	L396P	probably damaging	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,535,833	M440V	probably benign	Het
Sel1l2	T	C	2: 140,265,724	N240S	probably benign	Het
Skint1	T	C	4: 112,021,573	L234P	probably damaging	Het
Skint11	T	A	4: 114,244,722	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,910,167		probably benign	Het
Tas2r134	T	C	2: 51,628,402	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,594,311	A773D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmem184a	T	C	5: 139,814,054	E24G	probably null	Het
Tmem207	C	A	16: 26,516,827	W53C	possibly damaging	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Ttc37	T	C	13: 76,182,884	F1478L	possibly damaging	Het
Ttc41	G	T	10: 86,750,348	E839*	probably null	Het
Ufd1	T	G	16: 18,815,885		probably benign	Het
Usp28	A	G	9: 49,030,877	E713G	probably benign	Het
Utrn	A	G	10: 12,748,018	W159R	probably damaging	Het
Vcl	C	T	14: 21,003,150	A411V	probably benign	Het
Vcl	T	A	14: 21,008,952	C545*	probably null	Het
Vmn1r120	A	T	7: 21,053,452	S111R	probably damaging	Het
Wwox	T	A	8: 114,472,652	C146S	probably benign	Het
Zbtb2	T	C	10: 4,374,574	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,777,217	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,474,598	S231P	probably damaging	Het
Zhx3	G	T	2: 160,782,118	S43*	probably null	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
R0112:Parg	UTSW	14	32202433	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	unclassified	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
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
R7970:Parg	UTSW	14	32217662	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTCCAGGAGTACCTTCTGCAG -3'
(R):5'- CACAGCTCTAATTTTGGATATTACAGT -3'

Sequencing Primer
(F):5'- TCTGCAGGAATTCGATTTAGTATTTG -3'
(R):5'- TCCATGAGATCCAACTGTAAGG -3'

Posted On

2019-09-13