Incidental Mutation 'R4382:Acp2'
| ID |
325356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acp2
|
| Ensembl Gene |
ENSMUSG00000002103 |
| Gene Name |
acid phosphatase 2, lysosomal |
| Synonyms |
Acp-2, LAP |
| MMRRC Submission |
041679-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R4382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91033230-91044443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91038454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 309
(S309P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002172]
[ENSMUST00000028696]
[ENSMUST00000111352]
[ENSMUST00000150403]
[ENSMUST00000155418]
|
| AlphaFold |
P24638 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002172
AA Change: S309P
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: S309P
| 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 |
possibly damaging
Transcript: ENSMUST00000150403
AA Change: S276P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
AA Change: S276P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
| Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
| Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,733,321 (GRCm39) |
K372N |
probably benign |
Het |
| Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
| Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
| Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
| Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
| Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
| Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
| Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
| Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,392 (GRCm39) |
S140P |
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
| Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
| Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,194,307 (GRCm39) |
S87P |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
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 |
|
|
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 |
|
|
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'- TGGTTTATTCCGCGGTAAGC -3'
(R):5'- CATTCCGAAAGTACATCTCGACTG -3'
Sequencing Primer
(F):5'- CGGTAAGCATCAACCCTATCC -3'
(R):5'- CTCGACTGAGAAATTCCTGAGAGTTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation