Incidental Mutation 'R4843:Acp1'
ID 372011
Institutional Source Beutler Lab
Gene Symbol Acp1
Ensembl Gene ENSMUSG00000044573
Gene Name acid phosphatase 1, soluble
Synonyms Acp-1, LMW-PTP, 4632432E04Rik, Lmptp
MMRRC Submission 042456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4843 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 30943325-30961588 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 30946144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 124 (K124*)
Ref Sequence ENSEMBL: ENSMUSP00000073686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062740] [ENSMUST00000067087] [ENSMUST00000074038] [ENSMUST00000219697]
AlphaFold Q9D358
Predicted Effect probably null
Transcript: ENSMUST00000062740
AA Change: K124*
SMART Domains Protein: ENSMUSP00000106509
Gene: ENSMUSG00000044573
AA Change: K124*

DomainStartEndE-ValueType
LMWPc 7 156 1.58e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067087
SMART Domains Protein: ENSMUSP00000070037
Gene: ENSMUSG00000054204

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:FAM150 32 150 5.3e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000074038
AA Change: K124*
SMART Domains Protein: ENSMUSP00000073686
Gene: ENSMUSG00000044573
AA Change: K124*

DomainStartEndE-ValueType
LMWPc 7 156 5.62e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218696
Predicted Effect probably benign
Transcript: ENSMUST00000219697
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele show an increased mean serum IL-6 response to LPS challenge. Male homozygotes are smaller than controls whereas female homozygotes show an increased mean skin fibroblast proliferation rate. Males homozygous for a different null allele show decreased response of heart to induced stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 G T 9: 107,806,691 (GRCm39) C338F possibly damaging Het
Adam5 G A 8: 25,303,552 (GRCm39) S125F probably damaging Het
Ap2s1 C A 7: 16,477,271 (GRCm39) A44D possibly damaging Het
AW554918 T C 18: 25,473,057 (GRCm39) V84A probably benign Het
Bsn G A 9: 107,984,388 (GRCm39) T3222M unknown Het
Car15 A G 16: 17,654,472 (GRCm39) Y155H possibly damaging Het
Cdca2 G T 14: 67,914,425 (GRCm39) P945T probably damaging Het
Cdh16 A G 8: 105,348,172 (GRCm39) F182L probably damaging Het
Cers6 G A 2: 68,899,003 (GRCm39) A214T probably benign Het
Ces1g A T 8: 94,057,893 (GRCm39) M136K probably damaging Het
Cnppd1 A G 1: 75,113,086 (GRCm39) V394A probably benign Het
Cyp3a59 A T 5: 146,033,071 (GRCm39) I148F possibly damaging Het
Dnah1 G A 14: 30,986,920 (GRCm39) A3624V probably damaging Het
Exoc3l4 T C 12: 111,394,487 (GRCm39) probably benign Het
Fap G T 2: 62,374,718 (GRCm39) P227Q probably damaging Het
Fbxw10 G A 11: 62,738,151 (GRCm39) R15H possibly damaging Het
Gm11011 T C 2: 169,429,240 (GRCm39) probably benign Het
Gm11146 A C 16: 77,392,144 (GRCm39) probably benign Het
Grip1 G A 10: 119,765,920 (GRCm39) R84Q probably damaging Het
Hipk2 A G 6: 38,796,192 (GRCm39) C19R possibly damaging Het
Hmgcll1 A G 9: 75,979,916 (GRCm39) D102G possibly damaging Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kank1 T G 19: 25,408,371 (GRCm39) S1283R probably damaging Het
Kcnip1 T A 11: 33,594,504 (GRCm39) H95L probably benign Het
L3mbtl3 A T 10: 26,207,777 (GRCm39) L314Q unknown Het
Marveld3 C A 8: 110,688,702 (GRCm39) R13L possibly damaging Het
Mtrf1l G T 10: 5,773,696 (GRCm39) P23Q possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p69 G A 7: 107,967,350 (GRCm39) A218T probably benign Het
Or6c1b G T 10: 129,273,316 (GRCm39) V212L probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Plod3 G A 5: 137,019,854 (GRCm39) W428* probably null Het
Pnisr T A 4: 21,857,400 (GRCm39) probably benign Het
Ppip5k1 C A 2: 121,157,368 (GRCm39) R1046L probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Prmt5 A T 14: 54,753,582 (GRCm39) I99N probably benign Het
Ripk2 T C 4: 16,155,073 (GRCm39) T149A probably damaging Het
Rpf2 C A 10: 40,122,998 (GRCm39) probably benign Het
Rtf1 T A 2: 119,536,017 (GRCm39) D190E possibly damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Snd1 T G 6: 28,668,642 (GRCm39) V443G probably damaging Het
Spag9 T C 11: 93,988,644 (GRCm39) F555L probably damaging Het
Srfbp1 A G 18: 52,621,749 (GRCm39) K270R probably benign Het
Tenm2 T A 11: 35,914,847 (GRCm39) N2230I probably damaging Het
Tmem106a T C 11: 101,477,021 (GRCm39) probably benign Het
Tpsg1 A T 17: 25,589,591 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,146 (GRCm39) S1057G probably benign Het
Unc13d G A 11: 115,965,085 (GRCm39) T220M probably damaging Het
Vmn1r68 T C 7: 10,261,904 (GRCm39) T65A probably benign Het
Vps50 T C 6: 3,536,974 (GRCm39) probably null Het
Washc5 A G 15: 59,222,220 (GRCm39) I85T possibly damaging Het
Zfp677 C T 17: 21,612,788 (GRCm39) T2I probably benign Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging Het
Other mutations in Acp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Acp1 APN 12 30,947,792 (GRCm39) missense probably damaging 1.00
IGL00929:Acp1 APN 12 30,954,899 (GRCm39) missense probably damaging 1.00
IGL01982:Acp1 APN 12 30,961,491 (GRCm39) missense possibly damaging 0.77
IGL03012:Acp1 APN 12 30,945,948 (GRCm39) missense probably benign 0.08
R0918:Acp1 UTSW 12 30,955,126 (GRCm39) nonsense probably null
R1433:Acp1 UTSW 12 30,945,934 (GRCm39) missense possibly damaging 0.75
R1797:Acp1 UTSW 12 30,946,113 (GRCm39) critical splice donor site probably null
R1854:Acp1 UTSW 12 30,947,804 (GRCm39) missense possibly damaging 0.68
R5225:Acp1 UTSW 12 30,955,078 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGTCAGAGTCATTGCCCTGC -3'
(R):5'- CATTTCAAATCAGGTTGCACTGTTG -3'

Sequencing Primer
(F):5'- TTGCCCTGCAAGGACAGAAAAAG -3'
(R):5'- AATCAGGTTGCACTGTTGTAATTTG -3'
Posted On 2016-03-01