Incidental Mutation 'R4384:Acer2'
ID326101
Institutional Source Beutler Lab
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Namealkaline ceramidase 2
Synonyms2410116I05Rik, Asah3l
MMRRC Submission 042002-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #R4384 (G1)
Quality Score182
Status Validated
Chromosome4
Chromosomal Location86874396-86934822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86874568 bp
ZygosityHeterozygous
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]
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: 63,566,628 Y624H probably damaging Het
Arhgef10 T A 8: 14,930,157 C132* probably null Het
Boc A T 16: 44,491,182 L726H probably damaging Het
Brip1 A T 11: 86,148,429 D426E possibly damaging Het
Cadps2 T A 6: 23,412,988 Q654L probably benign Het
Calr3 T A 8: 72,428,164 D120V probably damaging Het
Cntnap3 A G 13: 64,748,460 Y1067H probably damaging Het
Csnk1g1 T C 9: 66,019,908 V119A probably damaging Het
Ddias G A 7: 92,858,223 T828I probably damaging Het
Dennd4c A G 4: 86,811,450 Y763C probably damaging Het
Dscam T A 16: 96,709,216 I948F probably damaging Het
E030018B13Rik A G 7: 63,919,393 probably benign Het
E2f8 G A 7: 48,867,099 T844I possibly damaging Het
Eps8 T A 6: 137,499,592 H603L probably benign Het
Esrrg G A 1: 188,043,711 C122Y probably damaging Het
Frmd4a C T 2: 4,594,563 R467* probably null Het
Gad2 G A 2: 22,685,410 V509I probably benign Het
Gpat4 A G 8: 23,174,586 I446T probably benign Het
Klhl12 T G 1: 134,487,654 D435E probably damaging Het
Luc7l T C 17: 26,279,962 probably benign Het
March2 C A 17: 33,696,193 M142I probably benign Het
Marf1 T A 16: 14,142,641 Y513F possibly damaging Het
Mdm2 T C 10: 117,696,439 D114G possibly damaging Het
Med1 G A 11: 98,152,862 probably benign Het
Meikin C T 11: 54,417,787 Q404* probably null Het
Myh9 A T 15: 77,791,712 probably benign Het
Mylip T C 13: 45,389,958 M1T probably null Het
Ncapg2 T C 12: 116,439,877 probably null Het
Nmd3 T C 3: 69,724,398 probably benign Het
Nwd2 T A 5: 63,806,571 L1166H probably damaging Het
Olfr341 A G 2: 36,479,998 L44P probably damaging Het
Olfr912 T C 9: 38,582,053 Y259H probably damaging Het
Rubcn A G 16: 32,856,902 I71T probably damaging Het
Rwdd3 T C 3: 121,158,757 probably benign Het
Ryr2 T C 13: 11,605,233 E3826G probably damaging Het
Sdad1 T C 5: 92,298,257 Q273R probably benign Het
Sdha A T 13: 74,326,985 I579K possibly damaging Het
Sema4d A G 13: 51,702,883 L771P probably damaging Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc6a11 A G 6: 114,247,727 E624G possibly damaging Het
Tada3 G T 6: 113,370,379 R117S probably damaging Het
Tm9sf3 T C 19: 41,247,933 M130V probably damaging Het
Trpc1 C A 9: 95,732,108 M34I probably benign Het
Trpc4ap A G 2: 155,640,507 V521A possibly damaging Het
Trpm2 A G 10: 77,917,725 V1315A probably benign Het
Tvp23a A G 16: 10,428,682 S80P probably benign Het
Usp54 A T 14: 20,550,085 probably null Het
Vmn2r27 A G 6: 124,224,156 Y281H probably benign Het
Vwf T A 6: 125,655,116 I37N unknown Het
Zfp329 G A 7: 12,811,657 probably benign Het
Zfp616 G T 11: 74,083,179 L91F possibly 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
IGL02936:Acer2 APN 4 86900559 missense possibly damaging 0.65
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
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
Predicted Primers PCR Primer
(F):5'- ACTCCGAAGACCTTTGCCAC -3'
(R):5'- TTGATGCGGACCCTTGGATC -3'

Sequencing Primer
(F):5'- TTCCCCAAGCCTGTCAGG -3'
(R):5'- TTGGATCCCGGAGCACAG -3'
Posted On2015-07-06