Incidental Mutation 'R4384:Acer2'
ID 326101
Institutional Source Beutler Lab
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Name alkaline ceramidase 2
Synonyms 2410116I05Rik, Asah3l
MMRRC Submission 042002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R4384 (G1)
Quality Score 182
Status Validated
Chromosome 4
Chromosomal Location 86792633-86853059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86792805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 27 (V27E)
Ref Sequence ENSEMBL: ENSMUSP00000081473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]
AlphaFold Q8VD53
Predicted Effect possibly damaging
Transcript: ENSMUST00000045224
AA Change: V27E

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: V27E

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084433
AA Change: V27E

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: V27E

DomainStartEndE-ValueType
Pfam:Ceramidase 7 123 2.6e-40 PFAM
Pfam:Ceramidase 112 217 1.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128712
Meta Mutation Damage Score 0.1836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Brip1 A T 11: 86,039,255 (GRCm39) D426E possibly damaging Het
Cadps2 T A 6: 23,412,987 (GRCm39) Q654L probably benign Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cntnap3 A G 13: 64,896,274 (GRCm39) Y1067H probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Ddias G A 7: 92,507,431 (GRCm39) T828I probably damaging Het
Dennd4c A G 4: 86,729,687 (GRCm39) Y763C probably damaging Het
Dscam T A 16: 96,510,416 (GRCm39) I948F probably damaging Het
E030018B13Rik A G 7: 63,569,141 (GRCm39) probably benign Het
E2f8 G A 7: 48,516,847 (GRCm39) T844I possibly damaging Het
Eps8 T A 6: 137,476,590 (GRCm39) H603L probably benign Het
Esrrg G A 1: 187,775,908 (GRCm39) C122Y probably damaging Het
Frmd4a C T 2: 4,599,374 (GRCm39) R467* probably null Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Gpat4 A G 8: 23,664,602 (GRCm39) I446T probably benign Het
Klhl12 T G 1: 134,415,392 (GRCm39) D435E probably damaging Het
Luc7l T C 17: 26,498,936 (GRCm39) probably benign Het
Marchf2 C A 17: 33,915,167 (GRCm39) M142I probably benign Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Mdm2 T C 10: 117,532,344 (GRCm39) D114G possibly damaging Het
Med1 G A 11: 98,043,688 (GRCm39) probably benign Het
Meikin C T 11: 54,308,613 (GRCm39) Q404* probably null Het
Myh9 A T 15: 77,675,912 (GRCm39) probably benign Het
Mylip T C 13: 45,543,434 (GRCm39) M1T probably null Het
Ncapg2 T C 12: 116,403,497 (GRCm39) probably null Het
Nmd3 T C 3: 69,631,731 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,914 (GRCm39) L1166H probably damaging Het
Or1j13 A G 2: 36,370,010 (GRCm39) L44P probably damaging Het
Or8b48 T C 9: 38,493,349 (GRCm39) Y259H probably damaging Het
Rubcn A G 16: 32,677,272 (GRCm39) I71T probably damaging Het
Rwdd3 T C 3: 120,952,406 (GRCm39) probably benign Het
Ryr2 T C 13: 11,620,119 (GRCm39) E3826G probably damaging Het
Sdad1 T C 5: 92,446,116 (GRCm39) Q273R probably benign Het
Sdha A T 13: 74,475,104 (GRCm39) I579K possibly damaging Het
Sema4d A G 13: 51,856,919 (GRCm39) L771P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc6a11 A G 6: 114,224,688 (GRCm39) E624G possibly damaging Het
Tada3 G T 6: 113,347,340 (GRCm39) R117S probably damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Trpc1 C A 9: 95,614,161 (GRCm39) M34I probably benign Het
Trpc4ap A G 2: 155,482,427 (GRCm39) V521A possibly damaging Het
Trpm2 A G 10: 77,753,559 (GRCm39) V1315A probably benign Het
Tvp23a A G 16: 10,246,546 (GRCm39) S80P probably benign Het
Usp54 A T 14: 20,600,153 (GRCm39) probably null Het
Vmn2r27 A G 6: 124,201,115 (GRCm39) Y281H probably benign Het
Vwf T A 6: 125,632,079 (GRCm39) I37N unknown Het
Zfp329 G A 7: 12,545,584 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,005 (GRCm39) L91F possibly damaging Het
Other mutations in Acer2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Acer2 APN 4 86,835,815 (GRCm39) makesense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACTCCGAAGACCTTTGCCAC -3'
(R):5'- TTGATGCGGACCCTTGGATC -3'

Sequencing Primer
(F):5'- TTCCCCAAGCCTGTCAGG -3'
(R):5'- TTGGATCCCGGAGCACAG -3'
Posted On 2015-07-06