Incidental Mutation 'BB008:Acp2'
| ID |
642455 |
| Institutional Source |
Beutler Lab
|
| 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 # |
BB008
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91033230-91044443 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 91037060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[ENSMUST00000111352]
[ENSMUST00000150403]
[ENSMUST00000155418]
|
| AlphaFold |
P24638 |
| Predicted Effect |
probably null
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: 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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
| C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
| F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
| Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,588,558 (GRCm39) |
D816G |
probably damaging |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
| Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
| Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
| Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
| Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
| Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,607,925 (GRCm39) |
M712L |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
| Slc6a1 |
T |
C |
6: 114,288,863 (GRCm39) |
F474S |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,356,141 (GRCm39) |
D235G |
probably damaging |
Het |
| Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
| Syne3 |
A |
T |
12: 104,929,491 (GRCm39) |
V243E |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,848,241 (GRCm39) |
I453M |
probably benign |
Het |
| Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
| Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
| Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
possibly 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 |
|
IGL02952:Acp2
|
APN |
2 |
91,038,788 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03272:Acp2
|
APN |
2 |
91,034,578 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCTGCTCTTCATGCTTGAG -3'
(R):5'- AGTGTGTGAGAAGCTCCCAC -3'
Sequencing Primer
(F):5'- ATGCTTGAGCTTCCTTTCCAATG -3'
(R):5'- CCACAGCAGATTTTCAGTGCTGG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation