Incidental Mutation 'R0517:Acer1'
ID 48257
Institutional Source Beutler Lab
Gene Symbol Acer1
Ensembl Gene ENSMUSG00000045019
Gene Name alkaline ceramidase 1
Synonyms Cer1, 2310024P18Rik, Asah3
MMRRC Submission 038710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0517 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 57260490-57289126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57262569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 194 (T194A)
Ref Sequence ENSEMBL: ENSMUSP00000062037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056113]
AlphaFold Q8R4X1
Predicted Effect probably benign
Transcript: ENSMUST00000056113
AA Change: T194A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000062037
Gene: ENSMUSG00000045019
AA Change: T194A

DomainStartEndE-ValueType
Pfam:Ceramidase 12 264 5.4e-58 PFAM
Meta Mutation Damage Score 0.1074 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele show increased ceramide levels, hair shaft abnormalities, cyclic alopecia, epidermal hyperplasia, sebaceous gland and infundibulum expansion, increased epidermal water loss, and hypermetabolism along with decreased body weight and adipose tissue depots during aging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,292,024 (GRCm39) probably benign Het
Adamts1 C A 16: 85,597,241 (GRCm39) D10Y possibly damaging Het
Adamts7 T C 9: 90,081,911 (GRCm39) V1612A probably benign Het
Adcyap1r1 T A 6: 55,468,282 (GRCm39) S373T probably damaging Het
Asic5 A T 3: 81,916,833 (GRCm39) I266F probably benign Het
Cacna1d A T 14: 29,901,232 (GRCm39) I274K probably damaging Het
Camsap2 G T 1: 136,221,126 (GRCm39) Q238K possibly damaging Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cerk G A 15: 86,040,849 (GRCm39) T170I probably damaging Het
Cyp27b1 T C 10: 126,885,985 (GRCm39) probably null Het
Cyp2c65 T C 19: 39,070,792 (GRCm39) probably benign Het
Dennd5a A G 7: 109,533,968 (GRCm39) S75P probably damaging Het
Dhx9 C T 1: 153,354,662 (GRCm39) A146T possibly damaging Het
Dpysl5 A G 5: 30,935,410 (GRCm39) D171G probably damaging Het
Dsg3 A G 18: 20,662,082 (GRCm39) N449S probably benign Het
Eps8l3 T C 3: 107,790,776 (GRCm39) S189P probably benign Het
Exph5 A G 9: 53,284,062 (GRCm39) E381G probably benign Het
Fbxo46 A G 7: 18,870,799 (GRCm39) M473V possibly damaging Het
Fgf14 G A 14: 124,221,196 (GRCm39) P203S probably damaging Het
Foxf2 C T 13: 31,810,226 (GRCm39) A55V unknown Het
Galnt5 T G 2: 57,925,385 (GRCm39) probably benign Het
Glis2 T C 16: 4,429,416 (GRCm39) L181P probably damaging Het
Gm10000 T G 12: 104,442,667 (GRCm39) probably benign Het
Helz2 A G 2: 180,869,563 (GRCm39) S2959P probably benign Het
Hyal6 A G 6: 24,734,852 (GRCm39) N262D probably benign Het
Lgr4 T C 2: 109,841,665 (GRCm39) L526P probably damaging Het
Mapk1 A T 16: 16,833,910 (GRCm39) I88F probably benign Het
Mpg A T 11: 32,181,853 (GRCm39) H287L probably benign Het
Mpp4 A T 1: 59,163,886 (GRCm39) Y489* probably null Het
Mpzl1 T C 1: 165,429,359 (GRCm39) E224G probably damaging Het
Myh10 A G 11: 68,702,425 (GRCm39) probably null Het
Odad2 A C 18: 7,223,621 (GRCm39) L474R probably damaging Het
Or13p8 T A 4: 118,583,831 (GRCm39) I129K probably damaging Het
Or5m9 T C 2: 85,877,548 (GRCm39) S241P probably damaging Het
Paip1 T A 13: 119,584,326 (GRCm39) F196I probably damaging Het
Pde3a A T 6: 141,444,383 (GRCm39) K1064* probably null Het
Pira2 A T 7: 3,847,196 (GRCm39) probably benign Het
Pros1 A G 16: 62,723,881 (GRCm39) S210G probably benign Het
Rbm15 A T 3: 107,238,685 (GRCm39) L571Q probably damaging Het
Scn1a T A 2: 66,132,751 (GRCm39) T1194S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Serpina1e G A 12: 103,915,486 (GRCm39) T240I probably benign Het
Setx T G 2: 29,047,145 (GRCm39) S1874R probably benign Het
Sgsm2 G T 11: 74,758,477 (GRCm39) T256K possibly damaging Het
Slc44a1 T C 4: 53,542,366 (GRCm39) V300A probably damaging Het
Spata46 A G 1: 170,139,178 (GRCm39) Y59C probably damaging Het
Supt3 T C 17: 45,430,158 (GRCm39) F404L probably benign Het
Tars1 T A 15: 11,394,452 (GRCm39) K62* probably null Het
Tas2r139 A C 6: 42,118,425 (GRCm39) T186P probably damaging Het
Tasor2 T A 13: 3,616,964 (GRCm39) T2367S possibly damaging Het
Tc2n C T 12: 101,615,454 (GRCm39) S457N probably damaging Het
Tox4 A T 14: 52,530,085 (GRCm39) S582C probably benign Het
Trappc12 T C 12: 28,747,133 (GRCm39) probably benign Het
Ubqlnl G T 7: 103,797,845 (GRCm39) Q551K probably damaging Het
Ubr4 A G 4: 139,119,435 (GRCm39) T205A probably benign Het
Urb1 G A 16: 90,574,310 (GRCm39) Q924* probably null Het
Vmn1r49 A G 6: 90,049,720 (GRCm39) L94P probably damaging Het
Vmn2r120 T C 17: 57,815,949 (GRCm39) Y802C probably damaging Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Other mutations in Acer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0047:Acer1 UTSW 17 57,262,624 (GRCm39) missense possibly damaging 0.65
R0047:Acer1 UTSW 17 57,262,624 (GRCm39) missense possibly damaging 0.65
R2200:Acer1 UTSW 17 57,265,423 (GRCm39) missense probably benign 0.01
R3110:Acer1 UTSW 17 57,265,406 (GRCm39) missense probably damaging 1.00
R3112:Acer1 UTSW 17 57,265,406 (GRCm39) missense probably damaging 1.00
R3776:Acer1 UTSW 17 57,262,111 (GRCm39) missense probably damaging 0.98
R5364:Acer1 UTSW 17 57,289,000 (GRCm39) missense probably damaging 0.98
R6236:Acer1 UTSW 17 57,262,231 (GRCm39) missense probably benign 0.19
R9310:Acer1 UTSW 17 57,262,598 (GRCm39) missense probably damaging 0.99
R9400:Acer1 UTSW 17 57,288,990 (GRCm39) missense probably damaging 1.00
RF001:Acer1 UTSW 17 57,265,909 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GGTTCTCACAGATGCTAACTTGGCTC -3'
(R):5'- ATCAGCCACTTAGAACACTGCCTTC -3'

Sequencing Primer
(F):5'- TCTTTAGATCCAGGCAGCCAG -3'
(R):5'- ccacccacccacaaacac -3'
Posted On 2013-06-12