Incidental Mutation 'R0344:Park7'
ID 26423
Institutional Source Beutler Lab
Gene Symbol Park7
Ensembl Gene ENSMUSG00000028964
Gene Name Parkinson disease (autosomal recessive, early onset) 7
Synonyms DJ-1
MMRRC Submission 038551-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 150981590-150994378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150992806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
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 possibly damaging
Transcript: ENSMUST00000030805
AA Change: V20A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105673
AA Change: V20A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105674
AA Change: V20A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 4 171 1.2e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105675
AA Change: V20A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.4e-17 PFAM
Pfam:DJ-1_PfpI 32 173 8.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105676
AA Change: V20A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DUF4066 9 170 1.7e-16 PFAM
Pfam:DJ-1_PfpI 32 171 3.6e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128075
AA Change: V20A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DUF4066 9 135 1.1e-15 PFAM
Pfam:DJ-1_PfpI 32 136 1.2e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000146184
AA Change: V20A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120832
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 32 84 4e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134751
AA Change: V20A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122265
Gene: ENSMUSG00000028964
AA Change: V20A

DomainStartEndE-ValueType
Pfam:DJ-1_PfpI 32 114 6.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148626
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C3ar1 T C 6: 122,827,731 (GRCm39) D162G probably benign Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Setdb1 A T 3: 95,233,442 (GRCm39) probably benign Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf6 T G 5: 138,179,409 (GRCm39) I377L probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Tmtc4 C T 14: 123,215,572 (GRCm39) V25M probably damaging Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign 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
R2062:Park7 UTSW 4 150,989,732 (GRCm39) missense probably benign 0.05
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'- TGCTCACCGTGTCACATAAACACAG -3'
(R):5'- TGCTGAAACTCTGCCATGTGAACC -3'

Sequencing Primer
(F):5'- TGTCACATAAACACAGAGTGGG -3'
(R):5'- CTGCCATGTGAACCAGTTTTAATC -3'
Posted On 2013-04-16