Incidental Mutation 'IGL01966:Acer2'
ID 181538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Name alkaline ceramidase 2
Synonyms 2410116I05Rik, Asah3l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL01966
Quality Score
Status
Chromosome 4
Chromosomal Location 86792633-86853059 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 86835815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 230 (*230R)
Ref Sequence ENSEMBL: ENSMUSP00000081473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]
AlphaFold Q8VD53
Predicted Effect probably null
Transcript: ENSMUST00000045224
AA Change: *276R
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: *276R

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000084433
AA Change: *230R
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: *230R

DomainStartEndE-ValueType
Pfam:Ceramidase 7 123 2.6e-40 PFAM
Pfam:Ceramidase 112 217 1.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128712
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik A G 4: 155,818,526 (GRCm39) probably null Het
Adamts12 A G 15: 11,258,269 (GRCm39) K527E probably damaging Het
Anks1b C A 10: 90,730,994 (GRCm39) R937S probably damaging Het
C2cd5 G T 6: 142,957,767 (GRCm39) C989* probably null Het
Calhm5 T C 10: 33,972,129 (GRCm39) H102R probably benign Het
Col14a1 A G 15: 55,312,121 (GRCm39) probably benign Het
Cramp1 T A 17: 25,201,917 (GRCm39) T522S probably benign Het
Cyp2c70 A T 19: 40,142,016 (GRCm39) probably benign Het
Elmod1 T A 9: 53,828,611 (GRCm39) I224F probably benign Het
Emx2 T A 19: 59,448,021 (GRCm39) I24N possibly damaging Het
Fga A T 3: 82,936,461 (GRCm39) I86F probably damaging Het
Fig4 C A 10: 41,108,098 (GRCm39) probably null Het
Gm10234 T C 6: 95,299,118 (GRCm39) probably null Het
Gm12588 A T 11: 121,797,561 (GRCm39) I96N probably benign Het
Grm3 A G 5: 9,561,486 (GRCm39) I788T probably damaging Het
Homer3 A G 8: 70,742,807 (GRCm39) K173E probably damaging Het
Kansl1l A G 1: 66,777,227 (GRCm39) V635A probably damaging Het
Kctd3 C T 1: 188,724,859 (GRCm39) G241R probably damaging Het
Krt8 G T 15: 101,906,105 (GRCm39) S423R probably benign Het
Lrrc24 C A 15: 76,602,511 (GRCm39) A125S probably benign Het
Muc4 T C 16: 32,570,244 (GRCm39) S435P possibly damaging Het
Nfkb2 G A 19: 46,298,129 (GRCm39) G502D probably benign Het
Nlrp6 G A 7: 140,505,103 (GRCm39) C750Y probably damaging Het
Or8b1b A T 9: 38,376,225 (GRCm39) D296V possibly damaging Het
Oxsm T C 14: 16,242,520 (GRCm38) N83S probably benign Het
Paqr3 A G 5: 97,247,502 (GRCm39) L202P probably benign Het
Pcdh10 T A 3: 45,334,733 (GRCm39) L349Q probably benign Het
Ptdss2 A G 7: 140,715,304 (GRCm39) T29A possibly damaging Het
Rbbp8nl G A 2: 179,922,782 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,272,789 (GRCm39) probably benign Het
Ric1 A T 19: 29,572,963 (GRCm39) Y801F probably benign Het
Sgcz A T 8: 38,107,169 (GRCm39) S114R probably damaging Het
Tenm4 A G 7: 96,202,757 (GRCm39) D124G probably damaging Het
Zscan22 T G 7: 12,640,398 (GRCm39) M214R probably benign Het
Other mutations in Acer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Acer2 APN 4 86,804,491 (GRCm39) missense probably benign 0.00
IGL02689:Acer2 APN 4 86,835,692 (GRCm39) missense probably benign 0.03
IGL02936:Acer2 APN 4 86,818,796 (GRCm39) missense possibly damaging 0.65
hectare UTSW 4 86,818,792 (GRCm39) missense probably damaging 1.00
square UTSW 4 86,805,287 (GRCm39) missense probably null 1.00
PIT4280001:Acer2 UTSW 4 86,805,320 (GRCm39) missense probably damaging 1.00
R0625:Acer2 UTSW 4 86,805,399 (GRCm39) missense possibly damaging 0.87
R0734:Acer2 UTSW 4 86,835,796 (GRCm39) missense probably benign 0.25
R4273:Acer2 UTSW 4 86,792,835 (GRCm39) critical splice donor site probably null
R4384:Acer2 UTSW 4 86,792,805 (GRCm39) missense possibly damaging 0.74
R5739:Acer2 UTSW 4 86,818,792 (GRCm39) missense probably damaging 1.00
R5926:Acer2 UTSW 4 86,792,805 (GRCm39) missense probably benign 0.37
R6267:Acer2 UTSW 4 86,792,823 (GRCm39) missense probably damaging 0.99
R6457:Acer2 UTSW 4 86,818,808 (GRCm39) missense probably damaging 1.00
R7197:Acer2 UTSW 4 86,805,287 (GRCm39) missense probably null 1.00
R7456:Acer2 UTSW 4 86,792,748 (GRCm39) missense possibly damaging 0.77
R8016:Acer2 UTSW 4 86,804,443 (GRCm39) missense probably damaging 0.98
R8123:Acer2 UTSW 4 86,805,272 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07