Incidental Mutation 'IGL00332:Acp6'
ID8551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acp6
Ensembl Gene ENSMUSG00000028093
Gene Nameacid phosphatase 6, lysophosphatidic
SynonymsACPL1, 5730559A09Rik, mPACPL1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL00332
Quality Score
Status
Chromosome3
Chromosomal Location97158777-97177299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97176421 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 404 (Y404H)
Ref Sequence ENSEMBL: ENSMUSP00000088263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090759]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090759
AA Change: Y404H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088263
Gene: ENSMUSG00000028093
AA Change: Y404H

DomainStartEndE-ValueType
Pfam:His_Phos_2 42 228 4.6e-20 PFAM
Pfam:His_Phos_2 245 371 8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198329
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Acp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Acp6 APN 3 97175720 missense possibly damaging 0.81
IGL01655:Acp6 APN 3 97165972 critical splice donor site probably null
IGL01788:Acp6 APN 3 97165882 missense probably damaging 1.00
IGL01845:Acp6 APN 3 97173807 missense probably benign 0.00
IGL02978:Acp6 APN 3 97166559 missense probably benign 0.30
IGL03180:Acp6 APN 3 97175635 missense probably benign 0.15
R0144:Acp6 UTSW 3 97165829 splice site probably benign
R0471:Acp6 UTSW 3 97168575 critical splice donor site probably null
R1458:Acp6 UTSW 3 97173788 splice site probably benign
R1889:Acp6 UTSW 3 97165885 missense probably damaging 0.98
R1990:Acp6 UTSW 3 97175738 missense probably damaging 1.00
R2051:Acp6 UTSW 3 97168017 missense probably benign 0.00
R3786:Acp6 UTSW 3 97159289 missense probably damaging 0.98
R3933:Acp6 UTSW 3 97166183 missense probably benign 0.00
R4271:Acp6 UTSW 3 97166618 critical splice donor site probably null
R4604:Acp6 UTSW 3 97175759 missense probably benign 0.23
R4864:Acp6 UTSW 3 97159367 critical splice donor site probably null
R4935:Acp6 UTSW 3 97171744 critical splice donor site probably null
R5076:Acp6 UTSW 3 97167989 missense probably benign 0.01
R5255:Acp6 UTSW 3 97167996 missense probably benign 0.11
R5896:Acp6 UTSW 3 97168494 missense probably benign 0.03
R5959:Acp6 UTSW 3 97166572 missense probably damaging 1.00
R6004:Acp6 UTSW 3 97175681 missense probably benign 0.11
R6938:Acp6 UTSW 3 97175633 missense probably benign 0.04
R7593:Acp6 UTSW 3 97165950 missense probably benign 0.30
X0067:Acp6 UTSW 3 97165957 nonsense probably null
Posted On2012-12-06