Incidental Mutation 'R4482:Parg'
ID 331473
Institutional Source Beutler Lab
Gene Symbol Parg
Ensembl Gene ENSMUSG00000021911
Gene Name poly (ADP-ribose) glycohydrolase
Synonyms
MMRRC Submission 041738-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4482 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 31923906-32019507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31984731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 254 (I254V)
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: I759V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911
AA Change: I759V

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: I759V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911
AA Change: I759V

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: ENSMUST00000163957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165950
Predicted Effect probably benign
Transcript: ENSMUST00000170129
Predicted Effect probably damaging
Transcript: ENSMUST00000170840
AA Change: I254V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911
AA Change: I254V

DomainStartEndE-ValueType
Pfam:PARG_cat 117 452 9.7e-135 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik A G 11: 3,845,008 (GRCm39) V27A possibly damaging Het
Actn3 A T 19: 4,913,436 (GRCm39) probably null Het
Adamts20 T C 15: 94,243,801 (GRCm39) Y642C probably damaging Het
Ankrd11 T C 8: 123,620,228 (GRCm39) D1187G probably damaging Het
Bag4 T C 8: 26,275,072 (GRCm39) probably benign Het
Bsn C A 9: 107,991,863 (GRCm39) K1296N probably damaging Het
Cct5 T C 15: 31,597,715 (GRCm39) D58G probably damaging Het
Cyp4a10 T C 4: 115,389,795 (GRCm39) F467L probably damaging Het
Dicer1 A G 12: 104,672,536 (GRCm39) Y904H probably damaging Het
Fbn1 A T 2: 125,205,530 (GRCm39) probably null Het
Fhip1b A T 7: 105,038,881 (GRCm39) F119L probably benign Het
Git1 T A 11: 77,391,333 (GRCm39) Y189N possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Itga6 T A 2: 71,686,259 (GRCm39) I1059N probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kbtbd3 A T 9: 4,331,051 (GRCm39) Y475F probably damaging Het
Map3k6 T C 4: 132,970,710 (GRCm39) I199T probably benign Het
Mtmr7 T C 8: 41,007,425 (GRCm39) M503V probably benign Het
Muc4 A G 16: 32,577,075 (GRCm39) T2192A unknown Het
Nexn T C 3: 151,948,390 (GRCm39) E391G probably damaging Het
Or5h22 G T 16: 58,895,286 (GRCm39) H52Q probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pomt2 G A 12: 87,178,604 (GRCm39) P290S probably benign Het
Rasl10a T A 11: 5,008,429 (GRCm39) Y42N probably damaging Het
Slc4a8 C A 15: 100,708,480 (GRCm39) F871L probably damaging Het
Tdrd9 T C 12: 111,980,935 (GRCm39) probably null Het
Trim21 G A 7: 102,213,140 (GRCm39) Q53* probably null Het
Triobp T C 15: 78,850,763 (GRCm39) S306P possibly damaging Het
Vasn A T 16: 4,466,190 (GRCm39) T46S possibly damaging Het
Wmp T A X: 106,990,237 (GRCm39) L225F possibly damaging Het
Zfp236 A T 18: 82,662,346 (GRCm39) F529Y probably benign 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
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'- AGCAACTGTGGTCACTCCTTAG -3'
(R):5'- ATAGGGTCTAATGCCCATTGAAG -3'

Sequencing Primer
(F):5'- GTCACTCCTTAGGAAAATTTGGGAGC -3'
(R):5'- GAAAAACACCTTGTCTGGGC -3'
Posted On 2015-07-21