Incidental Mutation 'IGL02251:Acp2'
| ID |
286386 |
| 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: 0.383)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
91033230-91044443 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3270 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 91038678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[ENSMUST00000028696]
[ENSMUST00000111352]
[ENSMUST00000150403]
[ENSMUST00000155418]
|
| AlphaFold |
P24638 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002172
AA Change: C345*
|
| SMART Domains |
Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: C345*
| 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 null
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 null
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: ENSMUST00000152277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150427
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
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 |
|
IGL02445:Acp2
|
APN |
2 |
91,036,606 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02952:Acp2
|
APN |
2 |
91,038,788 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation