Incidental Mutation 'IGL02952:Acp2'
| ID |
364981 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acp2
|
| Ensembl Gene |
ENSMUSG00000002103 |
| Gene Name |
acid phosphatase 2, lysosomal |
| Synonyms |
Acp-2, LAP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
IGL02952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91033230-91044443 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 91038788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[ENSMUST00000028696]
[ENSMUST00000111352]
[ENSMUST00000150403]
[ENSMUST00000155418]
|
| AlphaFold |
P24638 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002172
|
| SMART Domains |
Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
54 |
330 |
1.5e-35 |
PFAM |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028696
|
| SMART Domains |
Protein: ENSMUSP00000028696
Gene: ENSMUSG00000002109
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
69 |
N/A |
INTRINSIC |
|
WD40
|
100 |
140 |
1.48e-2 |
SMART |
|
WD40
|
144 |
185 |
7.92e1 |
SMART |
|
WD40
|
187 |
229 |
7.36e1 |
SMART |
|
WD40
|
231 |
271 |
3.14e-6 |
SMART |
|
WD40
|
278 |
316 |
3.55e-5 |
SMART |
|
Blast:WD40
|
379 |
419 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111352
|
| SMART Domains |
Protein: ENSMUSP00000106984
Gene: ENSMUSG00000002109
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
49 |
7.92e1 |
SMART |
|
WD40
|
51 |
93 |
7.36e1 |
SMART |
|
WD40
|
95 |
135 |
3.14e-6 |
SMART |
|
WD40
|
142 |
180 |
3.55e-5 |
SMART |
|
Blast:WD40
|
243 |
283 |
3e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150403
|
| SMART Domains |
Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
32 |
159 |
4e-35 |
PFAM |
|
Pfam:His_Phos_2
|
147 |
297 |
5.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152277
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155418
|
| SMART Domains |
Protein: ENSMUSP00000116030
Gene: ENSMUSG00000002103
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:His_Phos_2
|
32 |
166 |
4e-33 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutation of this gene result in skeletal defects and a small percentage of mutant animals exhibit tonic-clonic seizures. Mice with a missense mutation (Gly244Glu) are growth retarded and exhibit a disrupted cerebellum cytoarchitecture, an abnormal hair shaft, and skin malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
| Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
| Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
| Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
| Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
| Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
| Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
| Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
| Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
| Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
| Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
probably damaging |
Het |
|
| Other mutations in Acp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02137:Acp2
|
APN |
2 |
91,034,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Acp2
|
APN |
2 |
91,038,678 (GRCm39) |
splice site |
probably null |
|
|
IGL02445:Acp2
|
APN |
2 |
91,036,606 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03272:Acp2
|
APN |
2 |
91,034,578 (GRCm39) |
splice site |
probably benign |
|
|
BB008:Acp2
|
UTSW |
2 |
91,037,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
BB018:Acp2
|
UTSW |
2 |
91,037,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0781:Acp2
|
UTSW |
2 |
91,038,767 (GRCm39) |
splice site |
probably null |
|
|
R1110:Acp2
|
UTSW |
2 |
91,038,767 (GRCm39) |
splice site |
probably null |
|
|
R2107:Acp2
|
UTSW |
2 |
91,033,940 (GRCm39) |
splice site |
probably benign |
|
|
R4382:Acp2
|
UTSW |
2 |
91,038,454 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4726:Acp2
|
UTSW |
2 |
91,034,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Acp2
|
UTSW |
2 |
91,041,068 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4793:Acp2
|
UTSW |
2 |
91,037,134 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4817:Acp2
|
UTSW |
2 |
91,033,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Acp2
|
UTSW |
2 |
91,042,267 (GRCm39) |
unclassified |
probably benign |
|
|
R5092:Acp2
|
UTSW |
2 |
91,038,391 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5468:Acp2
|
UTSW |
2 |
91,036,443 (GRCm39) |
missense |
probably benign |
|
|
R7847:Acp2
|
UTSW |
2 |
91,041,077 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7931:Acp2
|
UTSW |
2 |
91,037,060 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8735:Acp2
|
UTSW |
2 |
91,034,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Acp2
|
UTSW |
2 |
91,036,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Acp2
|
UTSW |
2 |
91,037,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9435:Acp2
|
UTSW |
2 |
91,036,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Acp2
|
UTSW |
2 |
91,033,339 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation