Incidental Mutation 'R4876:Parg'
ID 376912
Institutional Source Beutler Lab
Gene Symbol Parg
Ensembl Gene ENSMUSG00000021911
Gene Name poly (ADP-ribose) glycohydrolase
Synonyms
MMRRC Submission 042485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4876 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31923906-32019507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31993625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 286 (T286A)
Ref Sequence ENSEMBL: ENSMUSP00000132454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022470] [ENSMUST00000163350] [ENSMUST00000170129] [ENSMUST00000170840]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022470
AA Change: T791A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: T791A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000163350
AA Change: T791A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: T791A

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000165950
Predicted Effect probably benign
Transcript: ENSMUST00000170129
Predicted Effect probably damaging
Transcript: ENSMUST00000170840
AA Change: T286A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911
AA Change: T286A

DomainStartEndE-ValueType
Pfam:PARG_cat 117 452 9.7e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171871
Meta Mutation Damage Score 0.6242 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 99% (97/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
A630001G21Rik C T 1: 85,646,761 (GRCm39) V167M probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano4 A G 10: 88,948,697 (GRCm39) F138L probably damaging Het
Aoc1 T C 6: 48,883,681 (GRCm39) V519A possibly damaging Het
Arhgef37 A T 18: 61,631,310 (GRCm39) Y558* probably null Het
Atxn3 T A 12: 101,914,638 (GRCm39) S29C probably damaging Het
Bbs2 T C 8: 94,796,788 (GRCm39) probably benign Het
Bicral A T 17: 47,136,502 (GRCm39) I236N probably damaging Het
Cabcoco1 A G 10: 68,377,599 (GRCm39) V30A probably benign Het
Cap2 A G 13: 46,684,497 (GRCm39) M1V probably null Het
Ccdc153 T C 9: 44,152,305 (GRCm39) M1T probably null Het
Ccnf A T 17: 24,449,311 (GRCm39) V489D probably damaging Het
Cdin1 A C 2: 115,500,539 (GRCm39) H159P probably damaging Het
Cntnap3 T C 13: 64,935,520 (GRCm39) T448A probably benign Het
Cpa4 G A 6: 30,590,814 (GRCm39) D371N probably benign Het
Csl T A 10: 99,594,402 (GRCm39) Y221F possibly damaging Het
Dalrd3 T C 9: 108,448,635 (GRCm39) probably benign Het
Dennd4a T A 9: 64,803,872 (GRCm39) N1070K probably benign Het
Dipk2a C T 9: 94,419,630 (GRCm39) R100H probably damaging Het
Dmwd A T 7: 18,814,472 (GRCm39) D374V probably damaging Het
Eea1 G T 10: 95,831,475 (GRCm39) A189S probably benign Het
Fasn A G 11: 120,703,138 (GRCm39) V1629A probably damaging Het
Fcgbpl1 A T 7: 27,842,225 (GRCm39) probably benign Het
Fndc1 T C 17: 7,990,471 (GRCm39) D1075G unknown Het
Fsip2 A G 2: 82,805,202 (GRCm39) N507S possibly damaging Het
Gabra5 T G 7: 57,063,413 (GRCm39) E337A probably damaging Het
Gsg1l A G 7: 125,490,841 (GRCm39) Y288H probably benign Het
H2-M11 A T 17: 36,858,401 (GRCm39) D65V probably benign Het
Hmgxb3 A T 18: 61,279,606 (GRCm39) C736S possibly damaging Het
Hsd3b3 A T 3: 98,649,960 (GRCm39) I121N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Il16 A C 7: 83,322,302 (GRCm39) S338A probably benign Het
Itpr1 G A 6: 108,459,867 (GRCm39) A2054T probably damaging Het
Lamp3 T A 16: 19,474,220 (GRCm39) I385F probably damaging Het
Limch1 G A 5: 67,039,270 (GRCm39) V66I possibly damaging Het
Lmod2 A G 6: 24,604,278 (GRCm39) R418G probably benign Het
Ly6g6c A T 17: 35,288,416 (GRCm39) D96V probably damaging Het
Map2k2 G A 10: 80,950,947 (GRCm39) V131M probably damaging Het
Mapk9 T C 11: 49,745,152 (GRCm39) V22A probably damaging Het
Mettl2 T C 11: 105,019,894 (GRCm39) I177T probably damaging Het
Mob4 C T 1: 55,191,995 (GRCm39) probably benign Het
Mybpc1 A T 10: 88,372,286 (GRCm39) N781K probably benign Het
Mybpc1 T C 10: 88,358,853 (GRCm39) I1113V probably benign Het
Myom1 A G 17: 71,384,405 (GRCm39) T707A probably damaging Het
Ncam2 G A 16: 81,287,234 (GRCm39) A383T probably benign Het
Nomo1 T C 7: 45,715,915 (GRCm39) S761P probably damaging Het
Nsd3 T A 8: 26,181,161 (GRCm39) S921T possibly damaging Het
Omp A T 7: 97,794,233 (GRCm39) D131E probably benign Het
Or10d1c A T 9: 38,893,922 (GRCm39) C139* probably null Het
Or4f7d-ps1 C G 2: 111,675,040 (GRCm39) noncoding transcript Het
Or8d4 C T 9: 40,038,514 (GRCm39) V248I probably damaging Het
Pard3 T C 8: 128,287,950 (GRCm39) probably benign Het
Parp1 T A 1: 180,396,600 (GRCm39) M1K probably null Het
Pclo T A 5: 14,861,694 (GRCm39) S4882R unknown Het
Pcnx2 C T 8: 126,498,847 (GRCm39) E1551K probably damaging Het
Pcyox1l A G 18: 61,832,565 (GRCm39) Y161H probably damaging Het
Pdzd8 A T 19: 59,289,236 (GRCm39) C721* probably null Het
Piwil4 T C 9: 14,651,761 (GRCm39) D90G probably benign Het
Plxdc2 T A 2: 16,708,129 (GRCm39) C306S probably damaging Het
Plxna2 T A 1: 194,326,083 (GRCm39) F6I probably benign Het
Prkaa1 T C 15: 5,203,886 (GRCm39) M265T probably benign Het
Prrc2b T C 2: 32,104,212 (GRCm39) V1230A probably benign Het
Rfx2 T C 17: 57,091,706 (GRCm39) E329G probably benign Het
Scg2 T C 1: 79,413,636 (GRCm39) I322M probably damaging Het
Scly T A 1: 91,247,850 (GRCm39) N399K probably damaging Het
Sec23b T A 2: 144,428,281 (GRCm39) probably null Het
Sephs2 A T 7: 126,872,219 (GRCm39) Y291* probably null Het
Slc45a3 T C 1: 131,909,285 (GRCm39) I494T possibly damaging Het
Slc6a21 C A 7: 44,929,535 (GRCm39) Y76* probably null Het
Slfn14 T A 11: 83,167,098 (GRCm39) I806L possibly damaging Het
Slfn4 T A 11: 83,077,844 (GRCm39) S211T probably benign Het
Sptbn4 A G 7: 27,071,577 (GRCm39) V1624A probably damaging Het
Sugp1 T A 8: 70,523,834 (GRCm39) M567K probably damaging Het
Tmem121 A T 12: 113,152,348 (GRCm39) M189L probably benign Het
Tmem201 A G 4: 149,806,727 (GRCm39) S444P probably damaging Het
Tmem63a T C 1: 180,800,751 (GRCm39) V744A probably benign Het
Tnrc18 G A 5: 142,717,380 (GRCm39) S2358F unknown Het
Ubash3b A G 9: 40,929,405 (GRCm39) V404A probably benign Het
Unc13c A T 9: 73,656,821 (GRCm39) C1127S probably damaging Het
Unc5a T C 13: 55,145,042 (GRCm39) V253A probably benign Het
Vmn1r-ps123 C T 13: 23,180,535 (GRCm39) noncoding transcript Het
Wdr74 A G 19: 8,716,849 (GRCm39) E253G possibly damaging Het
Wwox T C 8: 115,174,988 (GRCm39) Y107H probably damaging Het
Zdhhc22 A T 12: 87,035,012 (GRCm39) Y147N probably damaging Het
Zfp131 T C 13: 120,250,491 (GRCm39) H44R possibly damaging Het
Zfp235 A G 7: 23,840,384 (GRCm39) T268A probably benign Het
Zfp280d T C 9: 72,206,140 (GRCm39) probably benign Het
Zfp358 T C 8: 3,546,170 (GRCm39) S251P probably damaging Het
Other mutations in Parg
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2942:Parg UTSW 14 31,931,294 (GRCm39) missense probably damaging 1.00
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
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'- AGGTAGTAAGCATGACAGTCTC -3'
(R):5'- TACACAGAGAAACCCTGTCTCG -3'

Sequencing Primer
(F):5'- GTCTATGTAGTGAGTTCCAAGACAGC -3'
(R):5'- CCCTGTCTCGAAAAACCAAGAG -3'
Posted On 2016-03-17