Incidental Mutation 'R4817:Acp2'
ID 369878
Institutional Source Beutler Lab
Gene Symbol Acp2
Ensembl Gene ENSMUSG00000002103
Gene Name acid phosphatase 2, lysosomal
Synonyms Acp-2, LAP
MMRRC Submission 042435-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # R4817 (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 91033963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 44 (D44E)
Ref Sequence ENSEMBL: ENSMUSP00000119144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002172] [ENSMUST00000150403] [ENSMUST00000155418]
AlphaFold P24638
Predicted Effect probably damaging
Transcript: ENSMUST00000002172
AA Change: D44E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002172
Gene: ENSMUSG00000002103
AA Change: D44E

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: D44E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119144
Gene: ENSMUSG00000002103
AA Change: D44E

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: D44E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116030
Gene: ENSMUSG00000002103
AA Change: D44E

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (108/112)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp5 T C 9: 22,038,379 (GRCm39) I307M probably benign Het
Ahsa1 A G 12: 87,319,940 (GRCm39) D245G possibly damaging Het
Ankrd40 A G 11: 94,230,459 (GRCm39) K316E probably benign Het
Apol9b G A 15: 77,620,088 (GRCm39) E295K possibly damaging Het
Aqp4 C A 18: 15,532,815 (GRCm39) G93C probably damaging Het
Arhgap21 A G 2: 20,854,967 (GRCm39) V1465A probably benign Het
Arhgap5 C T 12: 52,565,992 (GRCm39) P988S possibly damaging Het
Asxl3 A C 18: 22,658,511 (GRCm39) K2174Q probably damaging Het
Brf1 A T 12: 112,935,921 (GRCm39) I250N probably damaging Het
Calm1 A G 12: 100,169,832 (GRCm39) probably null Het
Ccdc33 C T 9: 57,974,818 (GRCm39) V352M probably damaging Het
Ccdc88a G T 11: 29,410,907 (GRCm39) K464N probably benign Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdc25b T A 2: 131,035,223 (GRCm39) I327N probably damaging Het
Cenpf G A 1: 189,414,566 (GRCm39) H184Y possibly damaging Het
Cimap1d G A 10: 79,475,851 (GRCm39) P238S probably damaging Het
Col6a5 G A 9: 105,811,497 (GRCm39) T674I unknown Het
Creg2 A T 1: 39,662,358 (GRCm39) M258K probably damaging Het
Csf3r T A 4: 125,931,449 (GRCm39) Y477* probably null Het
Cyp3a44 T A 5: 145,740,565 (GRCm39) Y25F possibly damaging Het
Degs2 T A 12: 108,655,325 (GRCm39) R283* probably null Het
Dido1 T C 2: 180,303,209 (GRCm39) N1565S probably benign Het
Dnah6 A T 6: 72,999,407 (GRCm39) M4008K probably benign Het
Dnmbp C A 19: 43,838,411 (GRCm39) G1138V probably benign Het
Drosha A C 15: 12,914,133 (GRCm39) H1136P probably damaging Het
Duox2 T G 2: 122,126,996 (GRCm39) N173T probably damaging Het
Dync1li1 T G 9: 114,534,162 (GRCm39) I87M probably benign Het
E2f8 A C 7: 48,517,494 (GRCm39) S770A probably benign Het
Efemp1 A G 11: 28,876,241 (GRCm39) T469A probably damaging Het
Eif3f A T 7: 108,536,982 (GRCm39) T136S probably damaging Het
Enpp5 T C 17: 44,391,871 (GRCm39) *46R probably null Het
Epb41l4b A G 4: 57,103,428 (GRCm39) V136A probably damaging Het
Fam186a A C 15: 99,831,419 (GRCm39) probably benign Het
Flt4 A G 11: 49,516,242 (GRCm39) Y115C probably damaging Het
Gal T A 19: 3,461,126 (GRCm39) probably null Het
Galnt3 C T 2: 65,923,883 (GRCm39) V462I possibly damaging Het
Gas2l1 A G 11: 5,011,429 (GRCm39) S467P possibly damaging Het
Gbx1 A G 5: 24,731,204 (GRCm39) L204P probably damaging Het
Gle1 T A 2: 29,826,223 (GRCm39) S101T probably benign Het
Gltpd2 A C 11: 70,410,303 (GRCm39) Q87P probably damaging Het
Gm12789 T A 4: 101,846,079 (GRCm39) D113E probably damaging Het
Grin3b G A 10: 79,812,732 (GRCm39) G936R probably benign Het
Gtf3c2 C T 5: 31,331,434 (GRCm39) probably null Het
Gvin3 T A 7: 106,200,437 (GRCm39) noncoding transcript Het
Klhl28 T C 12: 65,004,043 (GRCm39) T157A probably benign Het
Kmt2a A G 9: 44,732,763 (GRCm39) probably benign Het
Lamp1 A G 8: 13,222,541 (GRCm39) T242A probably benign Het
Lhfpl5 T G 17: 28,795,300 (GRCm39) I109S possibly damaging Het
Lhfpl5 T A 17: 28,801,962 (GRCm39) *220R probably null Het
Map4k2 C T 19: 6,394,459 (GRCm39) T313I probably damaging Het
Matn2 A G 15: 34,423,945 (GRCm39) D601G probably damaging Het
Mcur1 C T 13: 43,705,147 (GRCm39) V170M possibly damaging Het
Mphosph10 T C 7: 64,041,969 (GRCm39) probably benign Het
Nat8l G A 5: 34,158,387 (GRCm39) A266T probably benign Het
Nckap5 G T 1: 125,954,952 (GRCm39) D469E possibly damaging Het
Nckap5l G T 15: 99,321,067 (GRCm39) P1238T probably damaging Het
Ngf A G 3: 102,417,156 (GRCm39) probably benign Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Or2q1 A G 6: 42,794,896 (GRCm39) I164V possibly damaging Het
Or2v2 A T 11: 49,004,448 (GRCm39) V35D probably damaging Het
Pclo A T 5: 14,725,045 (GRCm39) Y1301F unknown Het
Pclo A G 5: 14,763,139 (GRCm39) T3871A unknown Het
Peli3 T C 19: 4,982,594 (GRCm39) E357G probably damaging Het
Pkd1 T A 17: 24,784,348 (GRCm39) probably null Het
Pla2g2c T G 4: 138,461,645 (GRCm39) F38C probably damaging Het
Plekha2 T A 8: 25,549,960 (GRCm39) T126S possibly damaging Het
Polr3f T A 2: 144,376,001 (GRCm39) *142K probably null Het
Ppcs C T 4: 119,276,343 (GRCm39) V81M probably benign Het
Prl7a1 A G 13: 27,819,747 (GRCm39) I169T probably damaging Het
Rbm19 C A 5: 120,271,799 (GRCm39) probably benign Het
Rdh7 T A 10: 127,721,631 (GRCm39) Y215F probably benign Het
Rragd T G 4: 32,995,072 (GRCm39) S62R probably benign Het
Rtel1 T C 2: 180,997,728 (GRCm39) S1114P possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setbp1 A G 18: 78,902,015 (GRCm39) S551P probably damaging Het
Setd6 T C 8: 96,443,683 (GRCm39) probably benign Het
Slmap A C 14: 26,183,507 (GRCm39) M292R probably damaging Het
Srrm4 T C 5: 116,615,193 (GRCm39) D97G unknown Het
Stk-ps2 G A 1: 46,068,125 (GRCm39) noncoding transcript Het
Syce1 A T 7: 140,358,336 (GRCm39) M204K probably benign Het
Syk A G 13: 52,765,242 (GRCm39) K123R probably benign Het
Tbc1d14 A T 5: 36,729,175 (GRCm39) S64T probably damaging Het
Tmt1a3 A T 15: 100,233,214 (GRCm39) D135V probably damaging Het
Traf3ip3 T C 1: 192,867,137 (GRCm39) K295E probably damaging Het
Trp53bp2 T C 1: 182,269,370 (GRCm39) probably null Het
Tsc2 T A 17: 24,815,716 (GRCm39) probably null Het
Tspyl4 T A 10: 34,173,734 (GRCm39) C75* probably null Het
Uqcc2 T C 17: 27,344,133 (GRCm39) I52V probably benign Het
Vcp T A 4: 42,983,486 (GRCm39) T525S probably damaging Het
Vmn2r18 A T 5: 151,508,897 (GRCm39) probably null Het
Vmp1 A G 11: 86,492,879 (GRCm39) V310A probably benign Het
Vps13d T A 4: 144,795,735 (GRCm39) R3671S probably damaging Het
Wdr3 T C 3: 100,053,861 (GRCm39) T544A possibly damaging Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp541 T A 7: 15,824,307 (GRCm39) F1010I probably damaging Het
Zfp64 T C 2: 168,768,032 (GRCm39) T527A probably benign Het
Zyx G T 6: 42,333,421 (GRCm39) R449M probably damaging 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
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
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'- AAGGCGTTGCTTTCACTACTC -3'
(R):5'- AAGCTAGTAGTTTAAGGAGCCC -3'

Sequencing Primer
(F):5'- GGGGCTTTACCTATTATCTCAGG -3'
(R):5'- AGTTTAAGGAGCCCCAGTTTC -3'
Posted On 2016-02-04