Incidental Mutation 'PIT4651001:Prkn'
ID 556706
Institutional Source Beutler Lab
Gene Symbol Prkn
Ensembl Gene ENSMUSG00000023826
Gene Name parkin RBR E3 ubiquitin protein ligase
Synonyms PRKN, Parkin, Park2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # PIT4651001 (G1)
Quality Score 193.009
Status Not validated
Chromosome 17
Chromosomal Location 11059271-12282248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11286130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 41 (L41Q)
Ref Sequence ENSEMBL: ENSMUSP00000140587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168593] [ENSMUST00000191124] [ENSMUST00000218435]
AlphaFold Q9WVS6
PDB Structure NMR structure of ubiquitin-like domain in murine Parkin [SOLUTION NMR]
Crystal structure of ubiquitin-like domain of murine Parkin [X-RAY DIFFRACTION]
Crystal Structure of parkin ubiquitin-like domain R33Q mutant [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000168593
AA Change: L40Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127455
Gene: ENSMUSG00000023826
AA Change: L40Q

DomainStartEndE-ValueType
UBQ 2 71 1.31e-13 SMART
Blast:UBQ 202 229 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000191124
AA Change: L41Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: L41Q

DomainStartEndE-ValueType
UBQ 1 72 3.58e-15 SMART
Blast:UBQ 203 230 2e-6 BLAST
Blast:RING 237 295 7e-11 BLAST
IBR 312 376 1.2e-14 SMART
IBR 400 456 5.16e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000218435
AA Change: L40Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 70.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
PHENOTYPE: Dopamine and glutatamate transmission are impaired in some targeted null mice, resulting in decreased exploratory behavior. These mice show decreased body weight and temperature. Park2 is inactivated as part of a large deletion in the quaking mouse, a dysmyelinating mutant with a pronounced tremor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,408,014 (GRCm39) I428L probably benign Het
Aass T C 6: 23,118,750 (GRCm39) I131V probably benign Het
Alcam T A 16: 52,115,550 (GRCm39) K189N probably benign Het
Ankrd50 C A 3: 38,509,959 (GRCm39) E803* probably null Het
Ankrd53 A G 6: 83,742,715 (GRCm39) D236G probably damaging Het
Bard1 A G 1: 71,114,087 (GRCm39) V298A probably benign Het
Cacna1d C T 14: 29,900,602 (GRCm39) G361D probably damaging Het
Camkk1 A G 11: 72,916,647 (GRCm39) S82G probably benign Het
Ccr4 A T 9: 114,321,261 (GRCm39) V268E probably benign Het
Cdh6 G A 15: 13,044,805 (GRCm39) S439L possibly damaging Het
Ces1e G T 8: 93,941,711 (GRCm39) A254E probably benign Het
Cfap46 T C 7: 139,225,467 (GRCm39) T1078A Het
Cyp46a1 A G 12: 108,319,367 (GRCm39) D288G probably benign Het
Dnah6 T C 6: 73,037,243 (GRCm39) N3333S probably benign Het
Dzip3 A G 16: 48,765,241 (GRCm39) V491A probably benign Het
Egr1 G T 18: 34,996,240 (GRCm39) E341* probably null Het
Enpp1 G A 10: 24,529,848 (GRCm39) P597S probably benign Het
Ercc3 A T 18: 32,373,365 (GRCm39) probably benign Het
Fbn1 T C 2: 125,205,909 (GRCm39) probably null Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fhip1a C T 3: 85,590,948 (GRCm39) A389T probably damaging Het
Gbf1 A G 19: 46,151,982 (GRCm39) N5S probably benign Het
Gbp4 T A 5: 105,266,289 (GRCm39) H584L probably benign Het
Gcgr G T 11: 120,428,968 (GRCm39) C402F probably damaging Het
Grm7 T A 6: 110,623,050 (GRCm39) N74K probably benign Het
H1f9 A G 11: 94,859,142 (GRCm39) S146G probably benign Het
Hoxa10 T G 6: 52,211,877 (GRCm39) N13T possibly damaging Het
Ice1 A T 13: 70,772,040 (GRCm39) probably null Het
Il22 C A 10: 118,041,495 (GRCm39) N69K probably damaging Het
Il9r A T 11: 32,141,798 (GRCm39) H319Q probably benign Het
Itgax A G 7: 127,748,282 (GRCm39) T1104A probably benign Het
Jag1 C T 2: 136,943,617 (GRCm39) G193D probably damaging Het
Krt13 T A 11: 100,010,862 (GRCm39) D164V probably damaging Het
Lepr T C 4: 101,649,194 (GRCm39) M865T probably damaging Het
Lmf2 G A 15: 89,236,272 (GRCm39) H576Y possibly damaging Het
Lrrc8c C T 5: 105,756,189 (GRCm39) H655Y probably benign Het
Mapk6 A T 9: 75,304,869 (GRCm39) S183T possibly damaging Het
Mcrs1 A T 15: 99,144,832 (GRCm39) Y261N probably damaging Het
Mon1b G A 8: 114,365,254 (GRCm39) G194D probably benign Het
Myo18b C T 5: 112,982,301 (GRCm39) R1144Q probably benign Het
Myo9b T A 8: 71,795,456 (GRCm39) H808Q possibly damaging Het
Ngdn T C 14: 55,253,657 (GRCm39) I15T probably benign Het
Nhsl1 T G 10: 18,284,183 (GRCm39) S41R probably damaging Het
Numa1 A T 7: 101,663,141 (GRCm39) K2089M probably damaging Het
Obi1 T A 14: 104,743,692 (GRCm39) D129V probably damaging Het
Obscn A G 11: 58,932,507 (GRCm39) L4900P probably damaging Het
Olfm4 T A 14: 80,258,925 (GRCm39) L391Q probably benign Het
Or10g9b A T 9: 39,917,526 (GRCm39) C240S probably damaging Het
Or2ag1 A G 7: 106,472,730 (GRCm39) C241R probably damaging Het
Or5b106 T A 19: 13,123,991 (GRCm39) I11F probably benign Het
Or5b111 A G 19: 13,291,556 (GRCm39) I31T probably benign Het
Or5m9 T C 2: 85,876,862 (GRCm39) L12P probably damaging Het
Parn T A 16: 13,449,431 (GRCm39) N302Y probably benign Het
Pi4k2b T G 5: 52,905,812 (GRCm39) S118A possibly damaging Het
Piwil4 C T 9: 14,620,195 (GRCm39) V704I possibly damaging Het
Pm20d2 G A 4: 33,181,715 (GRCm39) T296M probably damaging Het
Pmpcb C T 5: 21,951,048 (GRCm39) A270V probably benign Het
Pnpt1 T C 11: 29,106,945 (GRCm39) probably null Het
Rc3h1 C A 1: 160,791,110 (GRCm39) N931K probably benign Het
Rlf A G 4: 121,007,510 (GRCm39) V600A probably damaging Het
Rpl27rt A T 18: 34,870,892 (GRCm39) Q142L unknown Het
Sall1 T G 8: 89,757,731 (GRCm39) Q791P probably damaging Het
Sema3c T A 5: 17,899,731 (GRCm39) Y408N probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Tmem181a A T 17: 6,351,170 (GRCm39) M319L probably benign Het
Trim24 T C 6: 37,877,667 (GRCm39) probably null Het
Ttn T A 2: 76,719,278 (GRCm39) T7234S unknown Het
Unc13c T A 9: 73,391,021 (GRCm39) M2076L possibly damaging Het
Uroc1 C T 6: 90,340,095 (GRCm39) R667* probably null Het
Uvrag A G 7: 98,555,727 (GRCm39) F456L probably benign Het
Vmn1r215 T C 13: 23,260,530 (GRCm39) V190A probably damaging Het
Vmn2r50 T A 7: 9,771,659 (GRCm39) T681S probably benign Het
Vmn2r65 T A 7: 84,595,461 (GRCm39) T408S probably benign Het
Vps33b A G 7: 79,939,755 (GRCm39) D502G probably damaging Het
Other mutations in Prkn
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Prkn UTSW 17 12,073,650 (GRCm39) missense probably damaging 1.00
FR4340:Prkn UTSW 17 12,073,650 (GRCm39) missense probably damaging 1.00
FR4342:Prkn UTSW 17 12,073,650 (GRCm39) missense probably damaging 1.00
R0333:Prkn UTSW 17 11,286,027 (GRCm39) missense probably damaging 1.00
R0543:Prkn UTSW 17 11,286,066 (GRCm39) missense probably damaging 1.00
R4460:Prkn UTSW 17 12,280,533 (GRCm39) missense probably damaging 1.00
R4710:Prkn UTSW 17 12,073,720 (GRCm39) missense possibly damaging 0.89
R4742:Prkn UTSW 17 11,456,591 (GRCm39) critical splice donor site probably null
R4752:Prkn UTSW 17 12,223,010 (GRCm39) missense probably benign
R4911:Prkn UTSW 17 11,059,359 (GRCm39) utr 5 prime probably benign
R5653:Prkn UTSW 17 11,456,536 (GRCm39) missense probably damaging 1.00
R5654:Prkn UTSW 17 11,456,536 (GRCm39) missense probably damaging 1.00
R5655:Prkn UTSW 17 11,456,536 (GRCm39) missense probably damaging 1.00
R6360:Prkn UTSW 17 12,222,939 (GRCm39) missense probably damaging 1.00
R6698:Prkn UTSW 17 11,286,183 (GRCm39) splice site probably null
R7163:Prkn UTSW 17 12,280,434 (GRCm39) missense probably damaging 1.00
R7241:Prkn UTSW 17 12,073,748 (GRCm39) missense possibly damaging 0.63
R7475:Prkn UTSW 17 11,653,501 (GRCm39) missense probably benign
R7630:Prkn UTSW 17 11,456,455 (GRCm39) missense probably benign
R8278:Prkn UTSW 17 12,269,609 (GRCm39) missense probably benign 0.26
R8299:Prkn UTSW 17 11,456,408 (GRCm39) missense probably benign 0.25
R8551:Prkn UTSW 17 11,286,103 (GRCm39) missense probably damaging 0.99
R8558:Prkn UTSW 17 11,456,472 (GRCm39) missense probably benign
R8706:Prkn UTSW 17 11,456,472 (GRCm39) missense probably benign
R8867:Prkn UTSW 17 11,456,448 (GRCm39) missense probably benign 0.00
R9241:Prkn UTSW 17 11,456,382 (GRCm39) missense probably benign 0.10
R9272:Prkn UTSW 17 11,456,527 (GRCm39) missense probably damaging 1.00
R9450:Prkn UTSW 17 12,057,521 (GRCm39) missense possibly damaging 0.95
R9607:Prkn UTSW 17 12,222,963 (GRCm39) missense probably damaging 0.99
R9665:Prkn UTSW 17 11,286,062 (GRCm39) missense possibly damaging 0.72
R9779:Prkn UTSW 17 11,854,318 (GRCm39) missense possibly damaging 0.60
R9796:Prkn UTSW 17 11,456,554 (GRCm39) missense possibly damaging 0.84
X0010:Prkn UTSW 17 11,456,463 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGCTTCAGAGACATTTCACTG -3'
(R):5'- TCAGAATTAATGAAGCCGTGCG -3'

Sequencing Primer
(F):5'- GACATTTCACTGGCCATTAAGGG -3'
(R):5'- GTAAAGTTCAAGGAATCCCCAGGTAC -3'
Posted On 2019-06-07