Incidental Mutation 'IGL03272:Acp2'
ID |
415311 |
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 # |
IGL03272
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91033230-91044443 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 91034578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119144
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[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 |
noncoding transcript
Transcript: ENSMUST00000124131
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136234
|
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 |
silent
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157393
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B4galnt3 |
T |
C |
6: 120,193,267 (GRCm39) |
D413G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,102,914 (GRCm39) |
D1357G |
possibly damaging |
Het |
Dsg1b |
T |
C |
18: 20,530,446 (GRCm39) |
L367P |
probably benign |
Het |
Emsy |
A |
T |
7: 98,242,969 (GRCm39) |
F1057I |
probably damaging |
Het |
Fam171a2 |
A |
T |
11: 102,334,944 (GRCm39) |
F64L |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,063,852 (GRCm39) |
S4603P |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,658,668 (GRCm39) |
T503A |
probably benign |
Het |
Gpr141b |
A |
T |
13: 19,913,707 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,227,419 (GRCm39) |
T1579A |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,024,680 (GRCm39) |
|
probably null |
Het |
Lrriq3 |
A |
T |
3: 154,806,695 (GRCm39) |
I115F |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,965,419 (GRCm39) |
D1149G |
probably damaging |
Het |
Mylk |
A |
C |
16: 34,799,559 (GRCm39) |
K1650Q |
probably benign |
Het |
Nrap |
T |
C |
19: 56,334,000 (GRCm39) |
|
probably benign |
Het |
Or5h25 |
A |
C |
16: 58,930,919 (GRCm39) |
V18G |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,888,641 (GRCm39) |
D332E |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,724,049 (GRCm39) |
I296K |
possibly damaging |
Het |
Psd4 |
A |
G |
2: 24,295,692 (GRCm39) |
|
probably benign |
Het |
Satb2 |
T |
C |
1: 56,884,802 (GRCm39) |
Q433R |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,511,899 (GRCm39) |
N134I |
probably damaging |
Het |
Slc6a3 |
A |
G |
13: 73,689,048 (GRCm39) |
N124S |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,710 (GRCm39) |
N1360S |
probably benign |
Het |
Strc |
G |
A |
2: 121,202,232 (GRCm39) |
T1212I |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,292,942 (GRCm39) |
K472R |
probably benign |
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 |
IGL02952:Acp2
|
APN |
2 |
91,038,788 (GRCm39) |
unclassified |
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 |
2016-08-02 |