Incidental Mutation 'R3753:Acp7'
ID 271312
Institutional Source Beutler Lab
Gene Symbol Acp7
Ensembl Gene ENSMUSG00000037469
Gene Name acid phosphatase 7, tartrate resistant
Synonyms C330005M16Rik, Papl
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R3753 (G1)
Quality Score 198
Status Validated
Chromosome 7
Chromosomal Location 28306701-28330757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28316085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 167 (Y167F)
Ref Sequence ENSEMBL: ENSMUSP00000045437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040112] [ENSMUST00000159418] [ENSMUST00000159560]
AlphaFold Q8BX37
Predicted Effect probably damaging
Transcript: ENSMUST00000040112
AA Change: Y167F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: Y167F

DomainStartEndE-ValueType
Pfam:Pur_ac_phosph_N 90 183 2.2e-19 PFAM
Pfam:Metallophos 192 395 6.4e-27 PFAM
Pfam:Metallophos_C 420 482 4.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159418
AA Change: Y109F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000159560
Meta Mutation Damage Score 0.5654 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gask1a A T 9: 121,794,899 (GRCm39) D351V probably damaging Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Or8j3b C T 2: 86,205,259 (GRCm39) V166I possibly damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Ramac C T 7: 81,417,395 (GRCm39) R32C probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M probably damaging Het
Other mutations in Acp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Acp7 APN 7 28,314,122 (GRCm39) missense possibly damaging 0.79
IGL00808:Acp7 APN 7 28,314,377 (GRCm39) missense probably damaging 1.00
IGL01085:Acp7 APN 7 28,310,478 (GRCm39) missense probably damaging 1.00
IGL02123:Acp7 APN 7 28,328,914 (GRCm39) missense probably benign
IGL02250:Acp7 APN 7 28,329,135 (GRCm39) splice site probably benign
IGL02255:Acp7 APN 7 28,314,148 (GRCm39) missense probably damaging 1.00
IGL02904:Acp7 APN 7 28,307,428 (GRCm39) missense probably benign 0.11
IGL03110:Acp7 APN 7 28,310,464 (GRCm39) missense probably benign 0.25
R0172:Acp7 UTSW 7 28,314,549 (GRCm39) missense possibly damaging 0.95
R0360:Acp7 UTSW 7 28,310,553 (GRCm39) splice site probably benign
R0364:Acp7 UTSW 7 28,310,553 (GRCm39) splice site probably benign
R1616:Acp7 UTSW 7 28,310,503 (GRCm39) missense probably damaging 1.00
R1973:Acp7 UTSW 7 28,307,414 (GRCm39) missense probably damaging 1.00
R2077:Acp7 UTSW 7 28,328,907 (GRCm39) missense probably damaging 1.00
R2125:Acp7 UTSW 7 28,328,974 (GRCm39) missense probably damaging 0.99
R2256:Acp7 UTSW 7 28,313,838 (GRCm39) missense probably damaging 0.98
R2257:Acp7 UTSW 7 28,313,838 (GRCm39) missense probably damaging 0.98
R2696:Acp7 UTSW 7 28,314,001 (GRCm39) missense probably benign 0.00
R3103:Acp7 UTSW 7 28,310,409 (GRCm39) critical splice donor site probably null
R3833:Acp7 UTSW 7 28,314,519 (GRCm39) missense probably benign 0.00
R4622:Acp7 UTSW 7 28,313,822 (GRCm39) missense probably damaging 1.00
R4849:Acp7 UTSW 7 28,314,877 (GRCm39) missense possibly damaging 0.82
R5364:Acp7 UTSW 7 28,310,448 (GRCm39) missense probably benign 0.25
R5382:Acp7 UTSW 7 28,314,844 (GRCm39) missense possibly damaging 0.80
R5665:Acp7 UTSW 7 28,315,968 (GRCm39) missense probably benign 0.31
R5688:Acp7 UTSW 7 28,315,920 (GRCm39) missense probably benign 0.20
R7278:Acp7 UTSW 7 28,330,307 (GRCm39) missense unknown
R7295:Acp7 UTSW 7 28,328,955 (GRCm39) missense possibly damaging 0.83
R7384:Acp7 UTSW 7 28,314,513 (GRCm39) missense possibly damaging 0.89
R7875:Acp7 UTSW 7 28,314,152 (GRCm39) missense probably damaging 1.00
R8227:Acp7 UTSW 7 28,316,073 (GRCm39) missense probably damaging 1.00
R8772:Acp7 UTSW 7 28,315,909 (GRCm39) missense probably damaging 0.99
R8969:Acp7 UTSW 7 28,307,382 (GRCm39) missense probably damaging 1.00
R9053:Acp7 UTSW 7 28,316,616 (GRCm39) missense possibly damaging 0.81
R9199:Acp7 UTSW 7 28,316,591 (GRCm39) missense probably benign 0.45
R9668:Acp7 UTSW 7 28,314,562 (GRCm39) critical splice acceptor site probably null
RF006:Acp7 UTSW 7 28,314,204 (GRCm39) missense possibly damaging 0.94
X0018:Acp7 UTSW 7 28,307,406 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTATTCTAGCCCAGGACTTATGG -3'
(R):5'- CTCTTCTGTGTGGAACAAGGGATATG -3'

Sequencing Primer
(F):5'- ACCCACGTGCAGCACTG -3'
(R):5'- TCATCCTGGGCTACGTAGAAAGTC -3'
Posted On 2015-03-18