Incidental Mutation 'R4726:Acp2'
ID 358442
Institutional Source Beutler Lab
Gene Symbol Acp2
Ensembl Gene ENSMUSG00000002103
Gene Name acid phosphatase 2, lysosomal
Synonyms Acp-2, LAP
MMRRC Submission 041989-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R4726 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91033230-91044443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91034622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 87 (L87Q)
Ref Sequence ENSEMBL: ENSMUSP00000116030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000150403] [ENSMUST00000155418]
AlphaFold P24638
Predicted Effect probably damaging
Transcript: ENSMUST00000002172
AA Change: L83Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: L83Q

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 damaging
Transcript: ENSMUST00000150403
AA Change: L83Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
AA Change: L83Q

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 probably damaging
Transcript: ENSMUST00000155418
AA Change: L87Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116030
Gene: ENSMUSG00000002103
AA Change: L87Q

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:His_Phos_2 32 166 4e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157393
Meta Mutation Damage Score 0.9245 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,448 (GRCm39) S52G probably null Het
Abcc2 T C 19: 43,820,553 (GRCm39) S1351P probably benign Het
Adgrl3 C A 5: 81,794,425 (GRCm39) T550K possibly damaging Het
Amotl2 A G 9: 102,601,018 (GRCm39) R329G probably benign Het
Angel1 T C 12: 86,768,649 (GRCm39) N278S probably damaging Het
Ankrd12 A C 17: 66,277,319 (GRCm39) M1985R probably damaging Het
Apob T A 12: 8,040,267 (GRCm39) F535I probably damaging Het
Art3 A G 5: 92,559,002 (GRCm39) K313R probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Bsph1 A T 7: 13,206,920 (GRCm39) M99L probably benign Het
Ccdc153 T C 9: 44,154,963 (GRCm39) probably null Het
Cdh16 A T 8: 105,342,664 (GRCm39) M28K probably damaging Het
Cdhr2 T C 13: 54,866,352 (GRCm39) F353L probably damaging Het
Chrna2 G T 14: 66,386,345 (GRCm39) V164L possibly damaging Het
Cip2a A G 16: 48,834,433 (GRCm39) T672A probably benign Het
Ckmt1 T C 2: 121,191,712 (GRCm39) probably null Het
Col25a1 A T 3: 130,313,430 (GRCm39) E280V possibly damaging Het
Dnajc12 A G 10: 63,233,087 (GRCm39) D76G probably damaging Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Ecpas A G 4: 58,844,191 (GRCm39) V525A probably damaging Het
Ehbp1l1 C A 19: 5,769,204 (GRCm39) A700S possibly damaging Het
Gab1 T C 8: 81,515,682 (GRCm39) D212G possibly damaging Het
Gm26996 A G 6: 130,557,134 (GRCm39) noncoding transcript Het
Gm28113 A G 15: 75,198,577 (GRCm39) noncoding transcript Het
Has3 T C 8: 107,604,718 (GRCm39) F308S probably damaging Het
Ifit3b T A 19: 34,588,860 (GRCm39) I12N probably benign Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Ints3 A G 3: 90,301,084 (GRCm39) S840P probably damaging Het
Itih4 T C 14: 30,611,792 (GRCm39) V132A probably damaging Het
Itprid2 T A 2: 79,493,101 (GRCm39) I1216N probably damaging Het
Kcnj10 A G 1: 172,196,639 (GRCm39) Y51C probably damaging Het
Klk1b24 G A 7: 43,839,820 (GRCm39) V60I probably damaging Het
Klra14-ps C A 6: 130,134,626 (GRCm39) noncoding transcript Het
Krt6b A G 15: 101,586,520 (GRCm39) I323T probably damaging Het
Lilra5 A C 7: 4,240,957 (GRCm39) Q17P probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Map3k4 T C 17: 12,451,851 (GRCm39) N1479S possibly damaging Het
Mbd3l2 A T 9: 18,356,256 (GRCm39) I194F probably damaging Het
Megf10 T C 18: 57,420,864 (GRCm39) I834T probably benign Het
Mterf4 G A 1: 93,229,471 (GRCm39) T251M probably damaging Het
Mtmr3 A T 11: 4,457,634 (GRCm39) D170E probably damaging Het
Myom3 C T 4: 135,534,586 (GRCm39) probably null Het
Nemp1 G A 10: 127,530,462 (GRCm39) V305I probably benign Het
Nlrp1b G T 11: 71,072,232 (GRCm39) T537K probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5b3 T A 19: 13,388,469 (GRCm39) C179S probably damaging Het
Or6c206 A G 10: 129,097,045 (GRCm39) T72A possibly damaging Het
Or8k28 A G 2: 86,286,580 (GRCm39) F12L possibly damaging Het
Pias1 A G 9: 62,827,771 (GRCm39) V212A probably damaging Het
Plscr1 T A 9: 92,145,221 (GRCm39) V77D probably damaging Het
Plxna1 T C 6: 89,299,798 (GRCm39) N1657S probably damaging Het
Ptprf A G 4: 118,069,414 (GRCm39) V1551A possibly damaging Het
Ptprn2 C A 12: 117,211,393 (GRCm39) Y857* probably null Het
Puf60 A T 15: 75,944,183 (GRCm39) probably null Het
Rnf20 C T 4: 49,654,579 (GRCm39) R879* probably null Het
Robo1 G A 16: 72,768,931 (GRCm39) A499T probably damaging Het
Slc39a14 A G 14: 70,551,048 (GRCm39) probably null Het
Smarcad1 A T 6: 65,052,025 (GRCm39) H6L probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Stk39 T A 2: 68,093,647 (GRCm39) D488V probably damaging Het
Stx19 A G 16: 62,642,495 (GRCm39) N104D probably benign Het
Tcstv1b A T 13: 120,635,173 (GRCm39) S152C possibly damaging Het
Tmem222 T C 4: 133,004,975 (GRCm39) M21V probably benign Het
Trim43b T A 9: 88,971,538 (GRCm39) N205I possibly damaging Het
Ubr4 C A 4: 139,209,890 (GRCm39) H5017N possibly damaging Het
Vmn2r93 A G 17: 18,536,960 (GRCm39) T548A probably damaging Het
Vps8 G A 16: 21,267,154 (GRCm39) probably null Het
Wasl A G 6: 24,633,110 (GRCm39) V176A probably benign Het
Wbp2nl T A 15: 82,190,255 (GRCm39) V61E probably damaging Het
Zfp959 T A 17: 56,205,260 (GRCm39) probably null Het
Zmiz1 T C 14: 25,644,098 (GRCm39) probably null Het
Other mutations in Acp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4382:Acp2 UTSW 2 91,038,454 (GRCm39) missense possibly damaging 0.80
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'- ATAGGACTTGTGGCTAATCCCC -3'
(R):5'- TGTCCAGGGACCAAAAGTTC -3'

Sequencing Primer
(F):5'- AAGACAGGGTTTCCTTGTGTAACAG -3'
(R):5'- TGTCCAGGGACCAAAAGTTCAAGAG -3'
Posted On 2015-11-11