Incidental Mutation 'R6236:Acer1'
ID 504969
Institutional Source Beutler Lab
Gene Symbol Acer1
Ensembl Gene ENSMUSG00000045019
Gene Name alkaline ceramidase 1
Synonyms Cer1, 2310024P18Rik, Asah3
MMRRC Submission 044400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6236 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57260490-57289126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57262231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 224 (I224F)
Ref Sequence ENSEMBL: ENSMUSP00000062037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056113]
AlphaFold Q8R4X1
Predicted Effect probably benign
Transcript: ENSMUST00000056113
AA Change: I224F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000062037
Gene: ENSMUSG00000045019
AA Change: I224F

DomainStartEndE-ValueType
Pfam:Ceramidase 12 264 5.4e-58 PFAM
Meta Mutation Damage Score 0.1623 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (57/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,989,664 (GRCm39) T703A possibly damaging Het
Acd C T 8: 106,427,127 (GRCm39) A49T probably benign Het
Acvr1 T C 2: 58,367,678 (GRCm39) D161G probably benign Het
Catsper4 T C 4: 133,948,887 (GRCm39) I111V probably benign Het
Cfap210 A C 2: 69,588,385 (GRCm39) probably null Het
Chst14 T A 2: 118,757,997 (GRCm39) C264S probably damaging Het
Clnk T C 5: 38,870,542 (GRCm39) T339A probably benign Het
Cnot4 T C 6: 35,045,608 (GRCm39) K201R probably benign Het
Col19a1 A G 1: 24,319,030 (GRCm39) V1020A probably damaging Het
Cts6 C A 13: 61,344,192 (GRCm39) E287* probably null Het
Dbf4 T C 5: 8,448,579 (GRCm39) probably benign Het
Diaph3 G A 14: 87,275,004 (GRCm39) R140* probably null Het
Faah T C 4: 115,856,786 (GRCm39) I459V probably benign Het
Fbxw2 A T 2: 34,712,845 (GRCm39) L72H probably damaging Het
Fstl4 G A 11: 53,077,162 (GRCm39) G640S probably benign Het
Gabrb1 C T 5: 72,265,663 (GRCm39) T186M probably damaging Het
Gata2 T C 6: 88,179,548 (GRCm39) probably null Het
Ifi203 A G 1: 173,761,479 (GRCm39) V190A probably benign Het
Kdm3a T C 6: 71,588,641 (GRCm39) E456G probably benign Het
Kl A T 5: 150,876,755 (GRCm39) T192S probably damaging Het
Klhl3 G A 13: 58,232,876 (GRCm39) A77V probably damaging Het
Klri2 A G 6: 129,715,858 (GRCm39) F114L probably benign Het
Lonp2 A T 8: 87,363,215 (GRCm39) R278* probably null Het
Lrp5 A T 19: 3,680,483 (GRCm39) probably null Het
Med13 T A 11: 86,219,357 (GRCm39) H363L probably damaging Het
Metap1d T G 2: 71,346,022 (GRCm39) F194L probably benign Het
Misp A G 10: 79,662,956 (GRCm39) K458E probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myh2 A G 11: 67,081,157 (GRCm39) T1258A probably benign Het
Nipbl T A 15: 8,354,064 (GRCm39) D1691V possibly damaging Het
Nr1i2 C T 16: 38,086,300 (GRCm39) C55Y probably damaging Het
Or11h7 T C 14: 50,891,257 (GRCm39) S188P probably damaging Het
Or7g21 A T 9: 19,032,409 (GRCm39) I50F possibly damaging Het
Pcdhgb4 T C 18: 37,854,345 (GRCm39) Y247H probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Ric1 T A 19: 29,572,826 (GRCm39) D755E possibly damaging Het
Sez6l G T 5: 112,623,110 (GRCm39) T147K possibly damaging Het
Ski A G 4: 155,244,001 (GRCm39) F451S probably benign Het
Slc45a2 C T 15: 11,022,158 (GRCm39) T300I probably benign Het
Smarca2 T C 19: 26,673,613 (GRCm39) V1050A probably benign Het
Spag1 T C 15: 36,211,281 (GRCm39) S476P probably damaging Het
Sptbn2 T A 19: 4,798,166 (GRCm39) S1964T probably benign Het
Sucla2 T A 14: 73,831,190 (GRCm39) D434E probably benign Het
Tbl3 G A 17: 24,919,717 (GRCm39) T779I probably benign Het
Tlr2 T A 3: 83,745,438 (GRCm39) E215V probably benign Het
Tomm40 G A 7: 19,437,281 (GRCm39) P227S probably benign Het
Tpp2 T A 1: 44,016,477 (GRCm39) S711T probably benign Het
Traj32 T A 14: 54,423,565 (GRCm39) Y2* probably null Het
Trim34b A G 7: 103,985,525 (GRCm39) R387G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp5 T C 6: 124,795,441 (GRCm39) T651A probably benign Het
Vmn1r188 T C 13: 22,272,414 (GRCm39) S123P probably damaging Het
Zdhhc14 T C 17: 5,543,918 (GRCm39) L66P probably damaging Het
Zfp712 C T 13: 67,188,685 (GRCm39) C614Y probably damaging Het
Zfp827 A G 8: 79,797,105 (GRCm39) K397R probably damaging 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
R0517:Acer1 UTSW 17 57,262,569 (GRCm39) missense probably benign 0.04
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
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'- AGACTACAGCAGAGCTCAGC -3'
(R):5'- AAGTCAGAGTTCAGATGCACTCC -3'

Sequencing Primer
(F):5'- TACAGCAGAGCTCAGCAGTTCTTG -3'
(R):5'- TCAGAGTTCAGATGCACTCCAAGTAG -3'
Posted On 2018-02-28