Incidental Mutation 'IGL01966:Acer2'
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ID181538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Namealkaline ceramidase 2
Synonyms2410116I05Rik, Asah3l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01966
Quality Score
Status
Chromosome4
Chromosomal Location86874396-86934822 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 86917578 bp
ZygosityHeterozygous
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]
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: 155,734,069 probably null Het
Adamts12 A G 15: 11,258,183 K527E probably damaging Het
Anks1b C A 10: 90,895,132 R937S probably damaging Het
C2cd5 G T 6: 143,012,041 C989* probably null Het
Col14a1 A G 15: 55,448,725 probably benign Het
Cramp1l T A 17: 24,982,943 T522S probably benign Het
Cyp2c70 A T 19: 40,153,572 probably benign Het
Elmod1 T A 9: 53,921,327 I224F probably benign Het
Emx2 T A 19: 59,459,589 I24N possibly damaging Het
Fam26e T C 10: 34,096,133 H102R probably benign Het
Fga A T 3: 83,029,154 I86F probably damaging Het
Fig4 C A 10: 41,232,102 probably null Het
Gm10234 T C 6: 95,322,137 probably null Het
Gm12588 A T 11: 121,906,735 I96N probably benign Het
Grm3 A G 5: 9,511,486 I788T probably damaging Het
Homer3 A G 8: 70,290,157 K173E probably damaging Het
Kansl1l A G 1: 66,738,068 V635A probably damaging Het
Kctd3 C T 1: 188,992,662 G241R probably damaging Het
Krt8 G T 15: 101,997,670 S423R probably benign Het
Lrrc24 C A 15: 76,718,311 A125S probably benign Het
Muc4 T C 16: 32,751,426 S435P possibly damaging Het
Nfkb2 G A 19: 46,309,690 G502D probably benign Het
Nlrp6 G A 7: 140,925,190 C750Y probably damaging Het
Olfr904 A T 9: 38,464,929 D296V possibly damaging Het
Oxsm T C 14: 16,242,520 N83S probably benign Het
Paqr3 A G 5: 97,099,643 L202P probably benign Het
Pcdh10 T A 3: 45,380,298 L349Q probably benign Het
Ptdss2 A G 7: 141,135,391 T29A possibly damaging Het
Rbbp8nl G A 2: 180,280,989 probably benign Het
Rc3h2 A G 2: 37,382,777 probably benign Het
Ric1 A T 19: 29,595,563 Y801F probably benign Het
Sgcz A T 8: 37,640,015 S114R probably damaging Het
Tenm4 A G 7: 96,553,550 D124G probably damaging Het
Zscan22 T G 7: 12,906,471 M214R probably benign Het
Other mutations in Acer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Acer2 APN 4 86886254 missense probably benign 0.00
IGL02689:Acer2 APN 4 86917455 missense probably benign 0.03
IGL02936:Acer2 APN 4 86900559 missense possibly damaging 0.65
hectare UTSW 4 86900555 missense probably damaging 1.00
R0625:Acer2 UTSW 4 86887162 missense possibly damaging 0.87
R0734:Acer2 UTSW 4 86917559 missense probably benign 0.25
R4273:Acer2 UTSW 4 86874598 critical splice donor site probably null
R4384:Acer2 UTSW 4 86874568 missense possibly damaging 0.74
R5739:Acer2 UTSW 4 86900555 missense probably damaging 1.00
R5926:Acer2 UTSW 4 86874568 missense probably benign 0.37
R6267:Acer2 UTSW 4 86874586 missense probably damaging 0.99
R6457:Acer2 UTSW 4 86900571 missense probably damaging 1.00
Posted On2014-05-07