Incidental Mutation 'R5926:Acer2'
ID 459883
Institutional Source Beutler Lab
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Name alkaline ceramidase 2
Synonyms 2410116I05Rik, Asah3l
MMRRC Submission 044121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R5926 (G1)
Quality Score 202
Status Not validated
Chromosome 4
Chromosomal Location 86792633-86853059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86792805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
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: V27A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: V27A

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084433
AA Change: V27A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: V27A

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,537,608 (GRCm39) Y701F probably benign Het
Abra T A 15: 41,729,650 (GRCm39) H250L probably damaging Het
Arhgef15 A G 11: 68,842,781 (GRCm39) L343S possibly damaging Het
Arnt2 G T 7: 83,993,154 (GRCm39) H129N probably damaging Het
Atp9a T A 2: 168,548,191 (GRCm39) Y63F probably damaging Het
Brca2 A G 5: 150,458,087 (GRCm39) T213A probably benign Het
Cdk5r1 T C 11: 80,369,128 (GRCm39) probably null Het
Cyb5r4 C T 9: 86,939,314 (GRCm39) L366F probably benign Het
Cyp20a1 T A 1: 60,402,401 (GRCm39) I162K possibly damaging Het
Dcaf1 T C 9: 106,715,561 (GRCm39) V226A probably benign Het
Ddx41 A T 13: 55,682,112 (GRCm39) M232K probably damaging Het
Dnm1 C T 2: 32,205,816 (GRCm39) V99I probably benign Het
Doc2a T C 7: 126,448,697 (GRCm39) V134A probably damaging Het
Ghdc C T 11: 100,659,063 (GRCm39) V380M possibly damaging Het
Gldn A G 9: 54,245,722 (GRCm39) I424M possibly damaging Het
Haus6 A T 4: 86,517,553 (GRCm39) H270Q probably benign Het
Hfe A T 13: 23,892,247 (GRCm39) M39K probably damaging Het
Jakmip1 C T 5: 37,242,624 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,235 (GRCm39) N187S probably benign Het
Kcnd2 A G 6: 21,217,084 (GRCm39) S263G probably damaging Het
Kcnh1 A G 1: 192,095,385 (GRCm39) N481S probably benign Het
Kcnn2 A G 18: 45,818,351 (GRCm39) I343V probably benign Het
L3hypdh T A 12: 72,123,959 (GRCm39) S300C probably damaging Het
Lrit1 T A 14: 36,776,966 (GRCm39) C29S probably damaging Het
Mark3 T A 12: 111,559,168 (GRCm39) V70E probably damaging Het
Med16 C T 10: 79,738,362 (GRCm39) V319M probably damaging Het
Mindy3 T C 2: 12,352,911 (GRCm39) Y430C probably damaging Het
Mup5 A T 4: 61,751,286 (GRCm39) F121I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Notch1 A G 2: 26,366,116 (GRCm39) Y813H probably benign Het
Or10a3m T C 7: 108,312,794 (GRCm39) L66S probably damaging Het
Or5p53 T C 7: 107,533,110 (GRCm39) S128P probably damaging Het
Or6b2b A T 1: 92,419,288 (GRCm39) L63Q probably damaging Het
Pi4kb A G 3: 94,906,307 (GRCm39) Y301C probably damaging Het
Ptch1 A G 13: 63,692,869 (GRCm39) S244P probably benign Het
Ptprn G A 1: 75,231,242 (GRCm39) T554I probably damaging Het
Ptprt T C 2: 161,406,606 (GRCm39) I969V probably benign Het
Raf1 T C 6: 115,596,859 (GRCm39) M519V probably benign Het
Ryr1 A G 7: 28,803,785 (GRCm39) V622A probably damaging Het
Spaca4 G T 7: 45,374,719 (GRCm39) H94Q probably benign Het
Spata31 A G 13: 65,068,539 (GRCm39) D229G possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Trpm8 T A 1: 88,258,469 (GRCm39) Y251N probably damaging Het
Vps16 T A 2: 130,285,476 (GRCm39) N806K probably damaging Het
Vwf T C 6: 125,581,137 (GRCm39) F592L probably 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
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
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 2017-02-28