Incidental Mutation 'R7523:Ppt2'
| ID |
582804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppt2
|
| Ensembl Gene |
ENSMUSG00000015474 |
| Gene Name |
palmitoyl-protein thioesterase 2 |
| Synonyms |
0610007M19Rik |
| MMRRC Submission |
045595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7523 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34835636-34847484 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 34845777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015620]
[ENSMUST00000064953]
[ENSMUST00000166040]
[ENSMUST00000167097]
[ENSMUST00000168391]
[ENSMUST00000169067]
[ENSMUST00000169287]
[ENSMUST00000170345]
[ENSMUST00000171121]
[ENSMUST00000171376]
|
| AlphaFold |
O35448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015620
|
| SMART Domains |
Protein: ENSMUSP00000015620
Gene: ENSMUSG00000015476
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
144 |
N/A |
INTRINSIC |
|
Pfam:CD225
|
214 |
286 |
3.5e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064953
|
| SMART Domains |
Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166040
|
| SMART Domains |
Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
289 |
9e-19 |
PFAM |
|
Pfam:Abhydrolase_1
|
37 |
173 |
9e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167097
|
| SMART Domains |
Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
236 |
7.7e-12 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
236 |
2.1e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168391
|
| SMART Domains |
Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169067
|
| SMART Domains |
Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169287
|
| SMART Domains |
Protein: ENSMUSP00000129421
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PJA|A
|
1 |
102 |
2e-42 |
PDB |
|
SCOP:d1fj2a_
|
29 |
91 |
7e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169969
|
| SMART Domains |
Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_1
|
18 |
139 |
9e-8 |
PFAM |
|
Pfam:Palm_thioest
|
116 |
234 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170345
|
| SMART Domains |
Protein: ENSMUSP00000127707
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
33 |
203 |
1.6e-9 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
201 |
2.2e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171121
|
| SMART Domains |
Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171376
|
| SMART Domains |
Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants show autofluorescent storage material in brain, abnormal clasping behavior, spasticity, ataxia and increased adult mortality. In addition, lipofuscin pigments in pancreas, bone marrow histiocytosis and splenomegaly are observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,824 (GRCm39) |
H40Q |
unknown |
Het |
| 4932414N04Rik |
A |
T |
2: 68,569,673 (GRCm39) |
Q463L |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,257 (GRCm39) |
E775* |
probably null |
Het |
| Atp12a |
T |
C |
14: 56,603,425 (GRCm39) |
V10A |
possibly damaging |
Het |
| Camkmt |
A |
G |
17: 85,699,056 (GRCm39) |
I144M |
probably benign |
Het |
| Ciao2b |
G |
A |
8: 105,368,404 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dazl |
G |
A |
17: 50,594,569 (GRCm39) |
T162I |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,803 (GRCm39) |
K653R |
probably damaging |
Het |
| Exosc10 |
A |
T |
4: 148,648,299 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,199,152 (GRCm39) |
D1372G |
probably benign |
Het |
| Fxr1 |
T |
C |
3: 34,093,692 (GRCm39) |
V23A |
probably benign |
Het |
| Gmps |
T |
C |
3: 63,919,087 (GRCm39) |
I557T |
possibly damaging |
Het |
| Ifnab |
A |
T |
4: 88,609,029 (GRCm39) |
Y146N |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,036 (GRCm39) |
Y925C |
not run |
Het |
| Lrp1b |
C |
T |
2: 41,401,473 (GRCm39) |
V394M |
|
Het |
| Ltbp2 |
T |
C |
12: 84,837,808 (GRCm39) |
T1211A |
probably benign |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,667,270 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
T |
11: 115,781,684 (GRCm39) |
I2798F |
unknown |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,464,037 (GRCm39) |
V314A |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Or2c1 |
T |
C |
16: 3,657,563 (GRCm39) |
V242A |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,389 (GRCm39) |
K236E |
probably damaging |
Het |
| Pdcd4 |
G |
T |
19: 53,899,379 (GRCm39) |
V123F |
probably damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,426,708 (GRCm39) |
R275W |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Ptbp3 |
A |
G |
4: 59,546,159 (GRCm39) |
V11A |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,819,331 (GRCm39) |
N795S |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,130 (GRCm38) |
I1383S |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,540,352 (GRCm39) |
I1023T |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,257,288 (GRCm39) |
E411G |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,530,078 (GRCm39) |
Y2112H |
probably benign |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,969,408 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,063,655 (GRCm39) |
S199R |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,586,783 (GRCm39) |
I399T |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,004,299 (GRCm39) |
N1344S |
|
Het |
| Vmn2r114 |
A |
G |
17: 23,529,611 (GRCm39) |
F164L |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,681,153 (GRCm39) |
T1041K |
probably benign |
Het |
| Zbtb20 |
T |
C |
16: 43,430,875 (GRCm39) |
V389A |
probably benign |
Het |
| Zfp811 |
A |
T |
17: 33,016,726 (GRCm39) |
I438N |
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,545 (GRCm39) |
D86G |
probably benign |
Het |
|
| Other mutations in Ppt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02033:Ppt2
|
APN |
17 |
34,844,728 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Ppt2
|
UTSW |
17 |
34,845,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Ppt2
|
UTSW |
17 |
34,845,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1498:Ppt2
|
UTSW |
17 |
34,842,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2058:Ppt2
|
UTSW |
17 |
34,841,818 (GRCm39) |
splice site |
probably benign |
|
|
R2059:Ppt2
|
UTSW |
17 |
34,841,818 (GRCm39) |
splice site |
probably benign |
|
|
R3919:Ppt2
|
UTSW |
17 |
34,841,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Ppt2
|
UTSW |
17 |
34,844,875 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5582:Ppt2
|
UTSW |
17 |
34,836,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5638:Ppt2
|
UTSW |
17 |
34,844,823 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6502:Ppt2
|
UTSW |
17 |
34,844,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Ppt2
|
UTSW |
17 |
34,841,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Ppt2
|
UTSW |
17 |
34,845,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7782:Ppt2
|
UTSW |
17 |
34,844,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7910:Ppt2
|
UTSW |
17 |
34,846,300 (GRCm39) |
splice site |
probably null |
|
|
R8708:Ppt2
|
UTSW |
17 |
34,844,613 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCACTAGGTTGGACAAAG -3'
(R):5'- TCATACGGACCAGGAGTAGG -3'
Sequencing Primer
(F):5'- GCACTAGGTTGGACAAAGTGTATTC -3'
(R):5'- CCTTCTCAGGTGGGAGCATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation