Incidental Mutation 'IGL02936:Acer2'
ID364322
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: 0.154) question?
Stock #IGL02936
Quality Score
Status
Chromosome4
Chromosomal Location86874396-86934822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86900559 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 148 (N148I)
Ref Sequence ENSEMBL: ENSMUSP00000040048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045224
AA Change: N148I

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: N148I

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084433
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,258,404 T229I possibly damaging Het
Acad11 T C 9: 104,113,512 S439P probably benign Het
Adgre1 A G 17: 57,478,833 I860V probably benign Het
Asb2 A G 12: 103,335,914 I125T probably benign Het
Atp13a2 G T 4: 141,001,949 L614F probably benign Het
Car7 A G 8: 104,548,222 T132A possibly damaging Het
Ccdc36 T C 9: 108,412,503 I173M possibly damaging Het
Cfap221 T C 1: 119,984,752 D135G probably damaging Het
Crtc3 A G 7: 80,589,763 F614L probably damaging Het
Csn3 T G 5: 87,930,133 I166S possibly damaging Het
Dna2 T G 10: 62,957,100 L298R probably damaging Het
Ece1 T C 4: 137,946,301 S387P probably benign Het
Fbxo28 C T 1: 182,341,528 G15D unknown Het
Fbxw24 A T 9: 109,624,958 probably null Het
Foxd3 T A 4: 99,656,815 V64E probably benign Het
Galnt7 A C 8: 57,584,214 V47G probably benign Het
Gcc2 A T 10: 58,296,140 L1453F probably damaging Het
Gcnt4 G A 13: 96,946,411 V72I probably benign Het
Gm10269 A C 18: 20,682,953 probably null Het
Hmcn1 T G 1: 150,697,522 Q2125H probably damaging Het
Llcfc1 T A 6: 41,684,659 S48T probably benign Het
Met G T 6: 17,553,397 V1061F probably damaging Het
Mthfd2 G A 6: 83,311,360 H138Y probably damaging Het
Mtus1 A T 8: 40,999,517 D1041E possibly damaging Het
Mug2 G A 6: 122,081,387 probably null Het
Nos3 C T 5: 24,380,993 T878I probably damaging Het
Olfr1211 A G 2: 88,929,784 M177T probably benign Het
Olfr690 A T 7: 105,330,005 Y62* probably null Het
Pbrm1 T A 14: 31,061,513 V497D probably damaging Het
Plcd1 T C 9: 119,074,199 E471G probably damaging Het
Poc1a A G 9: 106,285,027 T84A probably damaging Het
Ppm1f A G 16: 16,915,236 H209R probably damaging Het
Rccd1 T A 7: 80,317,046 K329N probably damaging Het
Serpinb9g A T 13: 33,494,882 N245I possibly damaging Het
Slc22a26 A C 19: 7,791,105 F196V probably damaging Het
Tial1 G A 7: 128,442,663 probably benign Het
Trpa1 A T 1: 14,875,969 probably null Het
Vmn1r15 A T 6: 57,258,818 K224* probably null Het
Wdr72 A T 9: 74,152,580 D424V probably damaging Het
Wt1 A G 2: 105,169,039 K308E probably damaging Het
Zwint T C 10: 72,657,124 S193P probably damaging Het
Other mutations in Acer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Acer2 APN 4 86917578 makesense probably null
IGL02378:Acer2 APN 4 86886254 missense probably benign 0.00
IGL02689:Acer2 APN 4 86917455 missense probably benign 0.03
hectare UTSW 4 86900555 missense probably damaging 1.00
square UTSW 4 86887050 missense probably null 1.00
PIT4280001:Acer2 UTSW 4 86887083 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
R7197:Acer2 UTSW 4 86887050 missense probably null 1.00
R7456:Acer2 UTSW 4 86874511 missense possibly damaging 0.77
R8016:Acer2 UTSW 4 86886206 missense probably damaging 0.98
R8123:Acer2 UTSW 4 86887035 missense probably damaging 0.96
Posted On2015-12-18