Incidental Mutation 'IGL03171:Pacrg'
ID 411853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacrg
Ensembl Gene ENSMUSG00000037196
Gene Name PARK2 co-regulated
Synonyms 1700008H23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03171
Quality Score
Status
Chromosome 17
Chromosomal Location 10621938-11059078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10795462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000044376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041463]
AlphaFold Q9DAK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000041463
AA Change: V166A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044376
Gene: ENSMUSG00000037196
AA Change: V166A

DomainStartEndE-ValueType
Pfam:ParcG 54 237 6.5e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160599
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,139,377 (GRCm39) F434Y possibly damaging Het
Adam19 G T 11: 46,029,681 (GRCm39) A709S probably damaging Het
Adgrf3 A T 5: 30,401,292 (GRCm39) L42Q probably damaging Het
D430041D05Rik T C 2: 104,071,508 (GRCm39) N1264S possibly damaging Het
Dnah9 T G 11: 65,872,067 (GRCm39) K2721T probably benign Het
Efr3b C T 12: 4,018,622 (GRCm39) A575T probably benign Het
Esco1 T C 18: 10,594,263 (GRCm39) E341G probably damaging Het
Ezh2 G A 6: 47,517,715 (GRCm39) R574* probably null Het
Fam169a G T 13: 97,246,522 (GRCm39) probably benign Het
Fry T C 5: 150,304,274 (GRCm39) Y555H probably damaging Het
Gm17175 A C 14: 51,809,065 (GRCm39) S100R probably damaging Het
Gm527 T C 12: 64,967,931 (GRCm39) Y118H probably damaging Het
H2-M10.4 G T 17: 36,772,142 (GRCm39) T202N probably damaging Het
Ift70a1 C T 2: 75,810,851 (GRCm39) A411T probably benign Het
Igf1 A T 10: 87,700,683 (GRCm39) T36S probably damaging Het
Ints8 C T 4: 11,231,702 (GRCm39) V428I probably benign Het
Itga6 G A 2: 71,671,673 (GRCm39) probably null Het
Jmjd1c A G 10: 67,061,277 (GRCm39) E1210G possibly damaging Het
Kdm2a A T 19: 4,406,792 (GRCm39) V134E probably damaging Het
Limch1 C A 5: 67,191,537 (GRCm39) N947K possibly damaging Het
Met T C 6: 17,562,272 (GRCm39) probably benign Het
Neb A G 2: 52,106,376 (GRCm39) probably benign Het
Ogg1 A G 6: 113,310,375 (GRCm39) I274V possibly damaging Het
Ola1 A T 2: 72,987,197 (GRCm39) I145K probably benign Het
Or2r11 G A 6: 42,437,464 (GRCm39) T163I possibly damaging Het
Pira2 T A 7: 3,845,604 (GRCm39) E260V probably damaging Het
Prickle3 T C X: 7,531,526 (GRCm39) C277R probably damaging Het
Psen1 A G 12: 83,761,638 (GRCm39) T147A probably damaging Het
Pxk C T 14: 8,151,014 (GRCm38) probably benign Het
Scn11a G A 9: 119,648,913 (GRCm39) P50L probably benign Het
Scn4a C A 11: 106,236,418 (GRCm39) V281L probably benign Het
Shcbp1 A G 8: 4,789,166 (GRCm39) I551T probably benign Het
Snx13 T A 12: 35,150,539 (GRCm39) I281N probably benign Het
Spata31e4 T A 13: 50,856,388 (GRCm39) S675R probably benign Het
Spopfm1 C A 3: 94,173,762 (GRCm39) H257N probably benign Het
Tdo2 T C 3: 81,874,336 (GRCm39) K209E probably benign Het
Trip6 C T 5: 137,311,146 (GRCm39) R190Q probably benign Het
Ubqln1 T A 13: 58,328,672 (GRCm39) E426D probably damaging Het
Zfp607b C A 7: 27,393,020 (GRCm39) N49K possibly damaging Het
Other mutations in Pacrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Pacrg APN 17 11,058,719 (GRCm39) missense probably benign
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
R1166:Pacrg UTSW 17 10,622,268 (GRCm39) nonsense probably null
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
Posted On 2016-08-02