Incidental Mutation 'R3103:Acp7'
ID 262897
Institutional Source Beutler Lab
Gene Symbol Acp7
Ensembl Gene ENSMUSG00000037469
Gene Name acid phosphatase 7, tartrate resistant
Synonyms Papl, C330005M16Rik
MMRRC Submission 040577-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28607634-28631332 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 28610984 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040112]
AlphaFold Q8BX37
Predicted Effect probably null
Transcript: ENSMUST00000040112
SMART Domains Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 G T 11: 80,157,033 (GRCm38) C105F probably damaging Het
Bace2 T C 16: 97,422,001 (GRCm38) probably null Het
Bpifc A G 10: 85,993,422 (GRCm38) S94P probably damaging Het
C2cd3 A G 7: 100,395,252 (GRCm38) D347G possibly damaging Het
Cad T C 5: 31,061,674 (GRCm38) V613A possibly damaging Het
Ccdc47 T C 11: 106,202,841 (GRCm38) H6R probably benign Het
Celsr3 A G 9: 108,837,139 (GRCm38) T1956A probably benign Het
Cep128 T A 12: 91,019,344 (GRCm38) D1006V probably damaging Het
Cog3 T C 14: 75,747,201 (GRCm38) probably null Het
Csmd1 C T 8: 15,917,405 (GRCm38) V3153M probably damaging Het
Ctnna2 T C 6: 77,653,144 (GRCm38) E122G possibly damaging Het
Cts8 T A 13: 61,250,958 (GRCm38) I245F probably damaging Het
Ddx27 T A 2: 167,026,246 (GRCm38) V333E probably damaging Het
Dmpk A G 7: 19,087,654 (GRCm38) Y279C probably damaging Het
Dpagt1 A G 9: 44,327,995 (GRCm38) I111V probably benign Het
Dvl2 C A 11: 70,008,869 (GRCm38) P546T possibly damaging Het
Fat4 G T 3: 38,891,940 (GRCm38) A1661S probably benign Het
Gcm1 A G 9: 78,064,452 (GRCm38) N225S probably damaging Het
Gcnt2 A T 13: 40,918,606 (GRCm38) M242L probably benign Het
Golgb1 A G 16: 36,894,849 (GRCm38) R226G probably damaging Het
Gpr63 G A 4: 25,007,353 (GRCm38) V26I probably benign Het
Grik2 A G 10: 49,240,772 (GRCm38) L631P probably damaging Het
Hapln3 T C 7: 79,121,736 (GRCm38) D135G probably benign Het
Il31ra C A 13: 112,530,351 (GRCm38) V398F probably damaging Het
Ipp G T 4: 116,524,249 (GRCm38) R315L possibly damaging Het
Kcmf1 A G 6: 72,861,847 (GRCm38) L32P probably damaging Het
Klf17 T A 4: 117,760,608 (GRCm38) Q184L possibly damaging Het
Lrp2 C T 2: 69,431,984 (GRCm38) V4442I probably benign Het
Lrrfip2 A T 9: 111,222,210 (GRCm38) E293D probably damaging Het
Oit3 A G 10: 59,438,891 (GRCm38) I29T probably damaging Het
Or1a1 G A 11: 74,196,075 (GRCm38) D191N probably benign Het
Or1j21 T C 2: 36,793,562 (GRCm38) C109R possibly damaging Het
Or51h1 T C 7: 102,659,481 (GRCm38) V220A probably benign Het
Plb1 T A 5: 32,328,029 (GRCm38) M842K possibly damaging Het
Ppt1 T C 4: 122,836,307 (GRCm38) C18R probably benign Het
Pstpip2 T C 18: 77,871,777 (GRCm38) Y191H probably damaging Het
Ryr1 C T 7: 29,074,948 (GRCm38) V2361I probably damaging Het
Serpinb11 A G 1: 107,377,608 (GRCm38) N238S probably benign Het
Skor2 A T 18: 76,859,278 (GRCm38) K232* probably null Het
Slc13a5 A T 11: 72,257,388 (GRCm38) W231R probably damaging Het
Svs5 A T 2: 164,333,393 (GRCm38) E55V probably benign Het
Tfcp2 A T 15: 100,525,600 (GRCm38) W142R probably damaging Het
Trpc2 A T 7: 102,095,234 (GRCm38) I738F possibly damaging Het
Vmn2r61 T A 7: 42,266,643 (GRCm38) S227T possibly damaging Het
Zfhx4 A G 3: 5,399,326 (GRCm38) T1540A probably damaging Het
Zfp616 A G 11: 74,071,735 (GRCm38) T74A probably benign Het
Other mutations in Acp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Acp7 APN 7 28,614,697 (GRCm38) missense possibly damaging 0.79
IGL00808:Acp7 APN 7 28,614,952 (GRCm38) missense probably damaging 1.00
IGL01085:Acp7 APN 7 28,611,053 (GRCm38) missense probably damaging 1.00
IGL02123:Acp7 APN 7 28,629,489 (GRCm38) missense probably benign
IGL02250:Acp7 APN 7 28,629,710 (GRCm38) splice site probably benign
IGL02255:Acp7 APN 7 28,614,723 (GRCm38) missense probably damaging 1.00
IGL02904:Acp7 APN 7 28,608,003 (GRCm38) missense probably benign 0.11
IGL03110:Acp7 APN 7 28,611,039 (GRCm38) missense probably benign 0.25
R0172:Acp7 UTSW 7 28,615,124 (GRCm38) missense possibly damaging 0.95
R0360:Acp7 UTSW 7 28,611,128 (GRCm38) splice site probably benign
R0364:Acp7 UTSW 7 28,611,128 (GRCm38) splice site probably benign
R1616:Acp7 UTSW 7 28,611,078 (GRCm38) missense probably damaging 1.00
R1973:Acp7 UTSW 7 28,607,989 (GRCm38) missense probably damaging 1.00
R2077:Acp7 UTSW 7 28,629,482 (GRCm38) missense probably damaging 1.00
R2125:Acp7 UTSW 7 28,629,549 (GRCm38) missense probably damaging 0.99
R2256:Acp7 UTSW 7 28,614,413 (GRCm38) missense probably damaging 0.98
R2257:Acp7 UTSW 7 28,614,413 (GRCm38) missense probably damaging 0.98
R2696:Acp7 UTSW 7 28,614,576 (GRCm38) missense probably benign 0.00
R3753:Acp7 UTSW 7 28,616,660 (GRCm38) missense probably damaging 1.00
R3833:Acp7 UTSW 7 28,615,094 (GRCm38) missense probably benign 0.00
R4622:Acp7 UTSW 7 28,614,397 (GRCm38) missense probably damaging 1.00
R4849:Acp7 UTSW 7 28,615,452 (GRCm38) missense possibly damaging 0.82
R5364:Acp7 UTSW 7 28,611,023 (GRCm38) missense probably benign 0.25
R5382:Acp7 UTSW 7 28,615,419 (GRCm38) missense possibly damaging 0.80
R5665:Acp7 UTSW 7 28,616,543 (GRCm38) missense probably benign 0.31
R5688:Acp7 UTSW 7 28,616,495 (GRCm38) missense probably benign 0.20
R7278:Acp7 UTSW 7 28,630,882 (GRCm38) missense unknown
R7295:Acp7 UTSW 7 28,629,530 (GRCm38) missense possibly damaging 0.83
R7384:Acp7 UTSW 7 28,615,088 (GRCm38) missense possibly damaging 0.89
R7875:Acp7 UTSW 7 28,614,727 (GRCm38) missense probably damaging 1.00
R8227:Acp7 UTSW 7 28,616,648 (GRCm38) missense probably damaging 1.00
R8772:Acp7 UTSW 7 28,616,484 (GRCm38) missense probably damaging 0.99
R8969:Acp7 UTSW 7 28,607,957 (GRCm38) missense probably damaging 1.00
R9053:Acp7 UTSW 7 28,617,191 (GRCm38) missense possibly damaging 0.81
R9199:Acp7 UTSW 7 28,617,166 (GRCm38) missense probably benign 0.45
R9668:Acp7 UTSW 7 28,615,137 (GRCm38) critical splice acceptor site probably null
RF006:Acp7 UTSW 7 28,614,779 (GRCm38) missense possibly damaging 0.94
X0018:Acp7 UTSW 7 28,607,981 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCCAGTTGGCCTTGAAGTG -3'
(R):5'- CGCACTTGTCTGACTGTCTG -3'

Sequencing Primer
(F):5'- AGGGGCTCTACCATTAAGCCATG -3'
(R):5'- GTCTGACTGTCTGTCCTCCAC -3'
Posted On 2015-02-05