Incidental Mutation 'R2062:Park7'
ID 228746
Institutional Source Beutler Lab
Gene Symbol Park7
Ensembl Gene ENSMUSG00000028964
Gene Name Parkinson disease (autosomal recessive, early onset) 7
Synonyms DJ-1
MMRRC Submission 040067-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R2062 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 150981590-150994378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150989732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 76 (N76S)
Ref Sequence ENSEMBL: ENSMUSP00000122265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030805] [ENSMUST00000105673] [ENSMUST00000105674] [ENSMUST00000105675] [ENSMUST00000105676] [ENSMUST00000128075] [ENSMUST00000146184] [ENSMUST00000134751]
AlphaFold Q99LX0
Predicted Effect probably benign
Transcript: ENSMUST00000030805
AA Change: N76S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105673
AA Change: N76S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105674
AA Change: N76S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 4 171 1.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105675
AA Change: N76S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105676
AA Change: N76S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.7e-16 PFAM
Pfam:DJ-1_PfpI 32 171 3.6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128075
AA Change: N76S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DUF4066 9 135 1.1e-15 PFAM
Pfam:DJ-1_PfpI 32 136 1.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146184
AA Change: N76S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000120832
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 32 84 4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134751
AA Change: N76S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122265
Gene: ENSMUSG00000028964
AA Change: N76S

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 32 114 6.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148626
Meta Mutation Damage Score 0.0859 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced evoked dopamine overflow in the striatum, resulting primarily from increased dopamine uptake. Mice show hyopactivity, absent long-term depression in medium spiny neurons and decreased sensitivity of nigral neurons to dopamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
A2ml1 A T 6: 128,529,271 (GRCm39) M957K probably benign Het
Adam7 C A 14: 68,742,610 (GRCm39) V668F probably benign Het
Adcy7 T G 8: 89,038,902 (GRCm39) L306R probably damaging Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano7 T C 1: 93,318,035 (GRCm39) V249A probably benign Het
Aox1 T C 1: 58,098,351 (GRCm39) probably null Het
Asah2 A T 19: 32,002,274 (GRCm39) V290E probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Atxn2l T A 7: 126,095,038 (GRCm39) K421N probably damaging Het
Cars2 T C 8: 11,597,747 (GRCm39) I110V probably damaging Het
Ccdc74a A G 16: 17,467,890 (GRCm39) N249S probably benign Het
Cenpe T C 3: 134,928,082 (GRCm39) probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cyp2d37-ps C T 15: 82,574,289 (GRCm39) noncoding transcript Het
Cyp3a25 A G 5: 145,923,779 (GRCm39) probably benign Het
Dis3l G T 9: 64,246,855 (GRCm39) Q67K probably benign Het
Dnah1 A G 14: 30,993,086 (GRCm39) V2936A probably damaging Het
Dnah5 C T 15: 28,366,416 (GRCm39) R2710C probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Dvl3 G A 16: 20,345,101 (GRCm39) S361N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Eif2ak3 T C 6: 70,881,181 (GRCm39) V1085A probably benign Het
Eif3b T C 5: 140,412,208 (GRCm39) Y226H probably damaging Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Ercc1 A G 7: 19,088,295 (GRCm39) *37W probably null Het
Evi2a G A 11: 79,418,593 (GRCm39) Q6* probably null Het
Faah C T 4: 115,855,770 (GRCm39) V552M probably damaging Het
Fat1 T A 8: 45,477,369 (GRCm39) N2138K probably damaging Het
Fat1 T A 8: 45,479,741 (GRCm39) V2929E probably damaging Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm6327 A T 16: 12,578,979 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hspg2 A T 4: 137,286,678 (GRCm39) T3666S possibly damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Iqgap1 G A 7: 80,373,727 (GRCm39) Q1421* probably null Het
Itga3 T A 11: 94,944,902 (GRCm39) Q802L possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lztr1 T C 16: 17,327,534 (GRCm39) V79A probably damaging Het
Mast4 C T 13: 102,895,601 (GRCm39) E736K probably benign Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Myof A G 19: 37,904,194 (GRCm39) V2A possibly damaging Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav3 G A 10: 109,555,882 (GRCm39) T1683M probably damaging Het
Nbea A G 3: 55,993,578 (GRCm39) probably benign Het
Nebl A T 2: 17,401,932 (GRCm39) M427K probably benign Het
Ngdn T C 14: 55,259,564 (GRCm39) V205A possibly damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or10j3b T C 1: 173,043,277 (GRCm39) F20L probably benign Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2w3 G T 11: 58,556,808 (GRCm39) C141F probably damaging Het
Or5m9 A G 2: 85,877,299 (GRCm39) T158A probably damaging Het
Or6c205 T A 10: 129,087,001 (GRCm39) Y199* probably null Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pkhd1 A G 1: 20,271,559 (GRCm39) I2998T probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppard A G 17: 28,518,663 (GRCm39) H388R probably damaging Het
Psma1 A G 7: 113,869,001 (GRCm39) S142P possibly damaging Het
Pth2r T C 1: 65,382,721 (GRCm39) I158T probably damaging Het
Rbl2 C A 8: 91,833,367 (GRCm39) P714Q probably damaging Het
Rexo2 A T 9: 48,385,813 (GRCm39) S104T possibly damaging Het
Sema5a T C 15: 32,609,363 (GRCm39) probably benign Het
Spmip10 C T 18: 56,721,535 (GRCm39) Q25* probably null Het
Sun2 A G 15: 79,622,852 (GRCm39) L109P probably damaging Het
Tdg A G 10: 82,477,368 (GRCm39) T116A probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tmcc1 C T 6: 116,020,019 (GRCm39) V118M probably benign Het
Tnfsf11 T A 14: 78,516,362 (GRCm39) N202I probably damaging Het
Togaram2 T C 17: 72,023,360 (GRCm39) S759P probably benign Het
Ttc7b G A 12: 100,291,948 (GRCm39) A208V probably damaging Het
Tti2 T C 8: 31,644,338 (GRCm39) probably benign Het
Wnk1 T C 6: 119,905,118 (GRCm39) probably null Het
Zfyve26 T C 12: 79,330,806 (GRCm39) probably null Het
Zfyve28 T C 5: 34,391,681 (GRCm39) M157V probably null Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Park7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:Park7 APN 4 150,988,288 (GRCm39) missense probably benign 0.28
stiffed UTSW 4 150,991,547 (GRCm39) missense possibly damaging 0.82
usurped UTSW 4 150,988,341 (GRCm39) missense probably damaging 1.00
R0268:Park7 UTSW 4 150,992,806 (GRCm39) missense possibly damaging 0.94
R0344:Park7 UTSW 4 150,992,806 (GRCm39) missense possibly damaging 0.94
R2416:Park7 UTSW 4 150,992,858 (GRCm39) missense probably benign 0.01
R3032:Park7 UTSW 4 150,985,509 (GRCm39) missense probably benign 0.00
R4638:Park7 UTSW 4 150,991,556 (GRCm39) nonsense probably null
R5345:Park7 UTSW 4 150,992,880 (GRCm39) splice site probably benign
R6585:Park7 UTSW 4 150,989,721 (GRCm39) missense probably benign 0.01
R7957:Park7 UTSW 4 150,988,341 (GRCm39) missense probably damaging 1.00
R8155:Park7 UTSW 4 150,991,547 (GRCm39) missense possibly damaging 0.82
R9337:Park7 UTSW 4 150,991,553 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCAGCGTGAGACACTC -3'
(R):5'- ACCAGAGGGATACACCTTTATTTATC -3'

Sequencing Primer
(F):5'- GAGACACTCACTGCCAACCTCTG -3'
(R):5'- GGTGTGCACTACTATGACTAGCAC -3'
Posted On 2014-09-17