Incidental Mutation 'R0333:Prkn'
| ID |
38362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkn
|
| Ensembl Gene |
ENSMUSG00000023826 |
| Gene Name |
parkin RBR E3 ubiquitin protein ligase |
| Synonyms |
PRKN, Parkin, Park2 |
| MMRRC Submission |
038542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R0333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
11059271-12282248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11286027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 6
(F6L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168593]
[ENSMUST00000191124]
[ENSMUST00000218435]
|
| AlphaFold |
Q9WVS6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000066658
|
| SMART Domains |
Protein: ENSMUSP00000063644
Gene: ENSMUSG00000023826
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
2 |
71 |
1.31e-13 |
SMART |
|
Blast:UBQ
|
202 |
229 |
5e-6 |
BLAST |
|
Blast:RING
|
236 |
287 |
9e-11 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168593
AA Change: F6L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127455
Gene: ENSMUSG00000023826
AA Change: F6L
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
2 |
71 |
1.31e-13 |
SMART |
|
Blast:UBQ
|
202 |
229 |
3e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191124
AA Change: F7L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: F7L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000218435
AA Change: F6L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.3905 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
| Drd1 |
C |
A |
13: 54,208,082 (GRCm39) |
C37F |
probably damaging |
Het |
| Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,777 (GRCm39) |
Y167H |
probably damaging |
Het |
| Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
| H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
| Mtdh |
T |
C |
15: 34,118,247 (GRCm39) |
S344P |
possibly damaging |
Het |
| Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
| Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
| Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
| Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,675,161 (GRCm39) |
I210N |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
| Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
| Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
| Tk2 |
C |
T |
8: 104,975,146 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prkn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
PIT4651001:Prkn
|
UTSW |
17 |
11,286,130 (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'- GAAAGGCACAAAACTGCCGTAGTC -3'
(R):5'- TTGAACCGTCAGGTGATTCGGAAG -3'
Sequencing Primer
(F):5'- tgttgttgttgttttgttttgttttg -3'
(R):5'- GTGATTCGGAAGCTCCTTCCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation