Incidental Mutation 'R5519:Acp3'
ID 431467
Institutional Source Beutler Lab
Gene Symbol Acp3
Ensembl Gene ENSMUSG00000032561
Gene Name acid phosphatase 3
Synonyms A030005E02Rik, Acpp, PAP
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5519 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 104165439-104214921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104168687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 393 (G393W)
Ref Sequence ENSEMBL: ENSMUSP00000059889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062723]
AlphaFold Q8CE08
Predicted Effect probably damaging
Transcript: ENSMUST00000062723
AA Change: G393W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059889
Gene: ENSMUSG00000032561
AA Change: G393W

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:His_Phos_2 33 331 3.8e-35 PFAM
transmembrane domain 382 404 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131084
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thermal nociceptive threshold and mechanical allodynia in chronic inflammatory and nerve injury pain models. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
A530084C06Rik T C 13: 31,742,702 (GRCm39) probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gm12790 G A 4: 101,824,888 (GRCm39) P127S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Jakmip3 T C 7: 138,609,520 (GRCm39) I208T probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pde11a T A 2: 75,906,299 (GRCm39) K639N probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D probably damaging Het
Other mutations in Acp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Acp3 APN 9 104,204,147 (GRCm39) missense probably damaging 1.00
IGL02994:Acp3 APN 9 104,186,602 (GRCm39) splice site probably benign
IGL03069:Acp3 APN 9 104,197,204 (GRCm39) missense possibly damaging 0.78
R0076:Acp3 UTSW 9 104,201,417 (GRCm39) splice site probably benign
R0076:Acp3 UTSW 9 104,201,417 (GRCm39) splice site probably benign
R0084:Acp3 UTSW 9 104,191,564 (GRCm39) missense probably benign 0.07
R0098:Acp3 UTSW 9 104,197,144 (GRCm39) splice site probably null
R0119:Acp3 UTSW 9 104,197,201 (GRCm39) missense probably damaging 1.00
R0299:Acp3 UTSW 9 104,197,201 (GRCm39) missense probably damaging 1.00
R0362:Acp3 UTSW 9 104,191,626 (GRCm39) missense probably damaging 1.00
R0499:Acp3 UTSW 9 104,197,201 (GRCm39) missense probably damaging 1.00
R0514:Acp3 UTSW 9 104,197,177 (GRCm39) missense probably damaging 1.00
R0964:Acp3 UTSW 9 104,204,174 (GRCm39) missense possibly damaging 0.94
R1506:Acp3 UTSW 9 104,201,373 (GRCm39) missense probably damaging 1.00
R1624:Acp3 UTSW 9 104,197,200 (GRCm39) missense probably benign 0.39
R2019:Acp3 UTSW 9 104,201,901 (GRCm39) missense probably damaging 1.00
R3821:Acp3 UTSW 9 104,201,916 (GRCm39) missense probably damaging 0.99
R3822:Acp3 UTSW 9 104,201,916 (GRCm39) missense probably damaging 0.99
R4896:Acp3 UTSW 9 104,184,174 (GRCm39) missense probably damaging 1.00
R5084:Acp3 UTSW 9 104,204,116 (GRCm39) missense probably damaging 1.00
R5257:Acp3 UTSW 9 104,186,674 (GRCm39) missense probably benign 0.24
R5258:Acp3 UTSW 9 104,186,674 (GRCm39) missense probably benign 0.24
R5795:Acp3 UTSW 9 104,186,688 (GRCm39) missense probably benign 0.04
R6909:Acp3 UTSW 9 104,178,164 (GRCm39) missense probably damaging 1.00
R7315:Acp3 UTSW 9 104,193,423 (GRCm39) critical splice donor site probably null
R7349:Acp3 UTSW 9 104,168,657 (GRCm39) missense probably benign 0.01
R7792:Acp3 UTSW 9 104,204,165 (GRCm39) missense probably damaging 1.00
R8355:Acp3 UTSW 9 104,204,174 (GRCm39) missense possibly damaging 0.94
R8455:Acp3 UTSW 9 104,204,174 (GRCm39) missense possibly damaging 0.94
R9556:Acp3 UTSW 9 104,197,178 (GRCm39) missense probably damaging 1.00
Z1177:Acp3 UTSW 9 104,191,617 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGCTCACACCAACTCTAGG -3'
(R):5'- AGCTCTTCGGAATCCAAGGC -3'

Sequencing Primer
(F):5'- CCAACTCTAGGTAAGTTCTAAAGGG -3'
(R):5'- TCACGAGTTGAAGCTAGCTC -3'
Posted On 2016-10-05