Incidental Mutation 'R3919:Ppt2'
| ID |
306916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppt2
|
| Ensembl Gene |
ENSMUSG00000015474 |
| Gene Name |
palmitoyl-protein thioesterase 2 |
| Synonyms |
0610007M19Rik |
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34835636-34847484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34841897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 213
(N213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064953]
[ENSMUST00000166040]
[ENSMUST00000167097]
[ENSMUST00000168391]
[ENSMUST00000169067]
[ENSMUST00000169287]
[ENSMUST00000171121]
[ENSMUST00000171376]
[ENSMUST00000170345]
|
| AlphaFold |
O35448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064953
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 damaging
Transcript: ENSMUST00000166040
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 damaging
Transcript: ENSMUST00000167097
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125937
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 damaging
Transcript: ENSMUST00000168391
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 |
noncoding transcript
Transcript: ENSMUST00000168709
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169067
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 benign
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 damaging
Transcript: ENSMUST00000171121
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 damaging
Transcript: ENSMUST00000171376
AA Change: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474
AA Change: N213S
| 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 |
unknown
Transcript: ENSMUST00000169969
AA Change: N157S
|
| SMART Domains |
Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474
AA Change: N157S
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.3380 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| 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 |
|---|
| 1700028J19Rik |
G |
T |
7: 43,879,852 (GRCm39) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,222,599 (GRCm39) |
S674P |
unknown |
Het |
| Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,829 (GRCm39) |
K28E |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,850,723 (GRCm39) |
T379S |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
probably damaging |
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 |
|
|
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 |
|
R7523:Ppt2
|
UTSW |
17 |
34,845,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- ATCAAGCCAGAGTTATGCACTG -3'
(R):5'- CACCACGATGACTTGTACCTCAATG -3'
Sequencing Primer
(F):5'- GGGACCCTGTCTGTCTCTAAAAG -3'
(R):5'- GATGACTTGTACCTCAATGCCAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation