Incidental Mutation 'IGL03272:Acp2'
ID415311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp2
Ensembl Gene ENSMUSG00000002103
Gene Nameacid phosphatase 2, lysosomal
SynonymsAcp-2, LAP
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.364) question?
Stock #IGL03272
Quality Score
Status
Chromosome2
Chromosomal Location91202885-91214098 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 91204233 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000150403] [ENSMUST00000155418]
Predicted Effect probably benign
Transcript: ENSMUST00000002172
SMART Domains Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530099J19Rik A T 13: 19,729,537 noncoding transcript Het
B4galnt3 T C 6: 120,216,306 D413G probably damaging Het
Chd2 T C 7: 73,453,166 D1357G possibly damaging Het
Dsg1b T C 18: 20,397,389 L367P probably benign Het
Emsy A T 7: 98,593,762 F1057I probably damaging Het
Fam171a2 A T 11: 102,444,118 F64L possibly damaging Het
Fat4 T C 3: 39,009,703 S4603P probably benign Het
Fyco1 T C 9: 123,829,603 T503A probably benign Het
Gpr179 T C 11: 97,336,593 T1579A possibly damaging Het
Itgae T C 11: 73,133,854 probably null Het
Lrriq3 A T 3: 155,101,058 I115F probably damaging Het
Mmrn1 A G 6: 60,988,435 D1149G probably damaging Het
Mylk A C 16: 34,979,189 K1650Q probably benign Het
Nrap T C 19: 56,345,568 probably benign Het
Olfr193 A C 16: 59,110,556 V18G probably benign Het
Ovgp1 T A 3: 105,981,325 D332E probably damaging Het
Pou2f1 A T 1: 165,896,480 I296K possibly damaging Het
Psd4 A G 2: 24,405,680 probably benign Het
Satb2 T C 1: 56,845,643 Q433R probably damaging Het
Serpinb9f A T 13: 33,327,916 N134I probably damaging Het
Slc6a3 A G 13: 73,540,929 N124S probably damaging Het
Spta1 A G 1: 174,214,144 N1360S probably benign Het
Strc G A 2: 121,371,751 T1212I probably damaging Het
Tmtc3 T C 10: 100,457,080 K472R probably benign Het
Other mutations in Acp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:Acp2 APN 2 91203683 missense probably damaging 1.00
IGL02251:Acp2 APN 2 91208333 splice site probably null
IGL02445:Acp2 APN 2 91206261 missense possibly damaging 0.63
IGL02952:Acp2 APN 2 91208443 unclassified probably benign
BB008:Acp2 UTSW 2 91206715 critical splice acceptor site probably null
BB018:Acp2 UTSW 2 91206715 critical splice acceptor site probably null
R0781:Acp2 UTSW 2 91208422 splice site probably null
R1110:Acp2 UTSW 2 91208422 splice site probably null
R2107:Acp2 UTSW 2 91203595 splice site probably benign
R4382:Acp2 UTSW 2 91208109 missense possibly damaging 0.80
R4726:Acp2 UTSW 2 91204277 missense probably damaging 1.00
R4737:Acp2 UTSW 2 91210723 missense probably benign 0.26
R4793:Acp2 UTSW 2 91206789 missense probably benign 0.13
R4817:Acp2 UTSW 2 91203618 missense probably damaging 1.00
R5089:Acp2 UTSW 2 91211922 unclassified probably benign
R5092:Acp2 UTSW 2 91208046 missense probably benign 0.19
R5468:Acp2 UTSW 2 91206098 missense probably benign
R7847:Acp2 UTSW 2 91210732 missense possibly damaging 0.67
R7931:Acp2 UTSW 2 91206715 critical splice acceptor site probably null
Posted On2016-08-02