Incidental Mutation 'IGL02378:Acer2'
ID 291217
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? Possibly non essential (E-score: 0.260) question?
Stock # IGL02378
Quality Score
Status
Chromosome 4
Chromosomal Location 86792633-86853059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86804491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 69 (T69S)
Ref Sequence ENSEMBL: ENSMUSP00000081473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]
AlphaFold Q8VD53
Predicted Effect probably benign
Transcript: ENSMUST00000045224
AA Change: T69S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: T69S

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084433
AA Change: T69S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: T69S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,080,424 (GRCm39) T414I probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Adcy2 A G 13: 68,878,411 (GRCm39) V409A probably damaging Het
Anks3 T A 16: 4,768,626 (GRCm39) Y239F possibly damaging Het
Arhgap42 G A 9: 9,035,584 (GRCm39) H253Y possibly damaging Het
Asb18 A T 1: 89,920,710 (GRCm39) L189Q probably damaging Het
C3 T C 17: 57,519,698 (GRCm39) R1185G probably benign Het
Cdca7l T A 12: 117,835,862 (GRCm39) V66E possibly damaging Het
Cdrt4 G T 11: 62,883,534 (GRCm39) E79* probably null Het
Cep57 A C 9: 13,732,842 (GRCm39) Y34* probably null Het
Cep63 A T 9: 102,473,314 (GRCm39) probably benign Het
Clip4 T A 17: 72,144,721 (GRCm39) I516K possibly damaging Het
Dnah10 A G 5: 124,850,131 (GRCm39) E1551G probably damaging Het
Dysf T C 6: 84,088,887 (GRCm39) I843T probably damaging Het
Gabra1 C A 11: 42,031,082 (GRCm39) V283F probably damaging Het
Hcfc2 T C 10: 82,544,905 (GRCm39) I179T possibly damaging Het
Htr2c G A X: 145,976,755 (GRCm39) probably benign Het
Irgc G A 7: 24,131,500 (GRCm39) T439I probably benign Het
Itgae T A 11: 73,008,947 (GRCm39) L476H probably benign Het
Jarid2 A C 13: 45,067,801 (GRCm39) K1070T probably damaging Het
Lama2 A G 10: 26,919,652 (GRCm39) I2193T probably damaging Het
Med19 A G 2: 84,515,625 (GRCm39) E103G probably damaging Het
Nav1 C T 1: 135,397,716 (GRCm39) D818N probably benign Het
Nom1 G T 5: 29,656,124 (GRCm39) E830* probably null Het
Or10g9b T G 9: 39,917,769 (GRCm39) T159P probably damaging Het
Or5b98 A C 19: 12,931,747 (GRCm39) S265R probably benign Het
Orai3 G T 7: 127,369,333 (GRCm39) R58L probably damaging Het
Osbpl8 T A 10: 111,118,006 (GRCm39) M583K possibly damaging Het
Pik3cb A T 9: 98,944,893 (GRCm39) M624K probably benign Het
Rars2 G A 4: 34,656,199 (GRCm39) R451H possibly damaging Het
Rgs22 A G 15: 36,103,951 (GRCm39) L170P probably benign Het
Rps6kl1 C A 12: 85,185,448 (GRCm39) D417Y probably damaging Het
Senp6 A G 9: 80,033,674 (GRCm39) D106G probably damaging Het
Setx C T 2: 29,063,738 (GRCm39) probably benign Het
Sfswap T A 5: 129,616,668 (GRCm39) Y371N probably damaging Het
Slc24a3 C T 2: 145,360,322 (GRCm39) R141C possibly damaging Het
Sorcs1 C T 19: 50,171,109 (GRCm39) W926* probably null Het
Steap4 A G 5: 8,026,741 (GRCm39) T235A probably benign Het
Tead2 T A 7: 44,867,571 (GRCm39) probably null Het
Tll1 A T 8: 64,470,660 (GRCm39) L921* probably null Het
Tnfrsf19 T A 14: 61,208,451 (GRCm39) T357S probably benign Het
Tnik C A 3: 28,692,608 (GRCm39) S825* probably null Het
Vil1 T A 1: 74,469,850 (GRCm39) probably null Het
Vmn2r106 T C 17: 20,497,791 (GRCm39) K483E probably damaging Het
Vwa5a G A 9: 38,645,266 (GRCm39) M450I probably benign Het
Xirp2 C T 2: 67,344,112 (GRCm39) P2118S probably benign Het
Other mutations in Acer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Acer2 APN 4 86,835,815 (GRCm39) makesense probably null
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 2015-04-16