Incidental Mutation 'R5582:Ppt2'
| ID |
438533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppt2
|
| Ensembl Gene |
ENSMUSG00000015474 |
| Gene Name |
palmitoyl-protein thioesterase 2 |
| Synonyms |
0610007M19Rik |
| MMRRC Submission |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34835636-34847484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34836373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 229
(T229M)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015611]
[ENSMUST00000037489]
[ENSMUST00000064953]
[ENSMUST00000097345]
[ENSMUST00000114140]
[ENSMUST00000166040]
[ENSMUST00000168391]
[ENSMUST00000169067]
[ENSMUST00000171121]
[ENSMUST00000171376]
[ENSMUST00000168353]
[ENSMUST00000174228]
[ENSMUST00000174595]
[ENSMUST00000173973]
|
| AlphaFold |
O35448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015611
|
| SMART Domains |
Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
36 |
102 |
4.3e-20 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037489
|
| SMART Domains |
Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064953
AA Change: T285M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474
AA Change: T285M
| 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: ENSMUST00000097345
|
| SMART Domains |
Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
104 |
3e-16 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114140
|
| SMART Domains |
Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166040
AA Change: T285M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474
AA Change: T285M
| 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 |
noncoding transcript
Transcript: ENSMUST00000166095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169969
AA Change: T229M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474
AA Change: T229M
| 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: ENSMUST00000168391
AA Change: T285M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474
AA Change: T285M
| 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: ENSMUST00000169067
AA Change: T285M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474
AA Change: T285M
| 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: ENSMUST00000171121
AA Change: T285M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474
AA Change: T285M
| 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: ENSMUST00000171376
AA Change: T285M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474
AA Change: T285M
| 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 |
noncoding transcript
Transcript: ENSMUST00000168327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168353
|
| SMART Domains |
Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
104 |
7.4e-16 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174228
|
| SMART Domains |
Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174595
|
| SMART Domains |
Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173973
|
| SMART Domains |
Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,266,345 (GRCm39) |
T399M |
possibly damaging |
Het |
| Kctd19 |
G |
A |
8: 106,135,075 (GRCm39) |
T62M |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
| Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
| Sipa1 |
C |
T |
19: 5,704,729 (GRCm39) |
G622D |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,408,015 (GRCm39) |
R238C |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,965,738 (GRCm39) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
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 |
|
|
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 |
|
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'- GGACCAGGACTTGTCATTCACAG -3'
(R):5'- GTTGGTCTGGACATGAGCAG -3'
Sequencing Primer
(F):5'- ACTTGTCATTCACAGAGGAGC -3'
(R):5'- GACATGAGCAGCGTCTCACTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation