Incidental Mutation 'R1166:Pacrg'
ID 101046
Institutional Source Beutler Lab
Gene Symbol Pacrg
Ensembl Gene ENSMUSG00000037196
Gene Name PARK2 co-regulated
Synonyms 1700008H23Rik
MMRRC Submission 039239-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1166 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 10621938-11059078 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 10622268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 235 (Y235*)
Ref Sequence ENSEMBL: ENSMUSP00000044376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041463]
AlphaFold Q9DAK2
Predicted Effect probably null
Transcript: ENSMUST00000041463
AA Change: Y235*
SMART Domains Protein: ENSMUSP00000044376
Gene: ENSMUSG00000037196
AA Change: Y235*

DomainStartEndE-ValueType
Pfam:ParcG 54 237 6.5e-87 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, and tonic-clonic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,547,880 (GRCm39) K286R probably benign Het
Arhgef10l T C 4: 140,302,581 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,152,706 (GRCm39) K733T probably damaging Het
Cenpn T G 8: 117,652,946 (GRCm39) I39R probably damaging Het
Cfap53 A T 18: 74,433,251 (GRCm39) Y112F possibly damaging Het
Cngb1 C A 8: 95,986,809 (GRCm39) C361F probably damaging Het
Ctf2 T C 7: 127,318,685 (GRCm39) T105A probably benign Het
Dnah7b A T 1: 46,364,970 (GRCm39) T3584S probably damaging Het
Ebf3 C T 7: 136,914,896 (GRCm39) probably benign Het
Ep300 A G 15: 81,514,265 (GRCm39) probably benign Het
Fbxo17 T A 7: 28,432,953 (GRCm39) V158E probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Gm5698 G T 1: 31,016,366 (GRCm39) D228E probably damaging Het
Hfm1 A T 5: 107,059,277 (GRCm39) D248E probably benign Het
Insm2 T C 12: 55,647,281 (GRCm39) S342P probably benign Het
Krt36 G A 11: 99,993,654 (GRCm39) R395C probably benign Het
Lrrc37 A G 11: 103,506,209 (GRCm39) S1920P probably benign Het
Lsm14b T A 2: 179,673,334 (GRCm39) probably benign Het
Map1a A G 2: 121,130,741 (GRCm39) E519G probably damaging Het
Mfsd14a T C 3: 116,427,543 (GRCm39) probably benign Het
Mfsd4b5 T C 10: 39,846,419 (GRCm39) Y387C probably damaging Het
Mybpc2 T C 7: 44,154,449 (GRCm39) N1063D possibly damaging Het
Nlrp10 T A 7: 108,524,217 (GRCm39) H421L probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4a81 A G 2: 89,619,675 (GRCm39) V7A possibly damaging Het
Pde4dip T A 3: 97,620,512 (GRCm39) D1629V possibly damaging Het
Prl8a2 G T 13: 27,537,935 (GRCm39) S204I possibly damaging Het
Sec24a A T 11: 51,624,294 (GRCm39) M356K possibly damaging Het
Sh3tc2 A C 18: 62,124,247 (GRCm39) S972R probably damaging Het
Shc2 C T 10: 79,456,946 (GRCm39) V557M probably damaging Het
Slc2a9 A G 5: 38,539,384 (GRCm39) probably null Het
Tcaf1 T C 6: 42,655,612 (GRCm39) I455V probably benign Het
Umodl1 T G 17: 31,221,772 (GRCm39) probably benign Het
Wdr27 T C 17: 15,112,733 (GRCm39) T658A probably damaging Het
Zfp318 T C 17: 46,720,618 (GRCm39) Y1119H possibly damaging Het
Zfp939 C A 7: 39,122,763 (GRCm39) noncoding transcript Het
Other mutations in Pacrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Pacrg APN 17 11,058,719 (GRCm39) missense probably benign
IGL03171:Pacrg APN 17 10,795,462 (GRCm39) missense possibly damaging 0.50
R0373:Pacrg UTSW 17 10,622,347 (GRCm39) missense probably damaging 1.00
R0471:Pacrg UTSW 17 10,795,407 (GRCm39) missense possibly damaging 0.74
R1606:Pacrg UTSW 17 11,058,725 (GRCm39) nonsense probably null
R8007:Pacrg UTSW 17 11,058,919 (GRCm39) unclassified probably benign
R8026:Pacrg UTSW 17 10,795,496 (GRCm39) missense probably benign 0.03
R8352:Pacrg UTSW 17 10,795,523 (GRCm39) nonsense probably null
R8452:Pacrg UTSW 17 10,795,523 (GRCm39) nonsense probably null
R9409:Pacrg UTSW 17 10,996,065 (GRCm39) missense probably damaging 0.98
X0021:Pacrg UTSW 17 10,816,101 (GRCm39) missense probably benign 0.34
Z1177:Pacrg UTSW 17 11,058,700 (GRCm39) missense probably benign 0.02
Predicted Primers
Posted On 2014-01-15