Incidental Mutation 'R0942:Acer3'
ID 82753
Institutional Source Beutler Lab
Gene Symbol Acer3
Ensembl Gene ENSMUSG00000030760
Gene Name alkaline ceramidase 3
Synonyms 1110057L18Rik, 5430429L08Rik, Phca
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 97863015-97970415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97906949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 119 (Y119C)
Ref Sequence ENSEMBL: ENSMUSP00000116127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033020] [ENSMUST00000120520] [ENSMUST00000137899] [ENSMUST00000151258]
AlphaFold Q9D099
Predicted Effect probably damaging
Transcript: ENSMUST00000033020
AA Change: Y119C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033020
Gene: ENSMUSG00000030760
AA Change: Y119C

DomainStartEndE-ValueType
Pfam:Ceramidase 9 264 4.9e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120520
AA Change: Y77C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112884
Gene: ENSMUSG00000030760
AA Change: Y77C

DomainStartEndE-ValueType
Pfam:Ceramidase 1 219 1.9e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137899
SMART Domains Protein: ENSMUSP00000120334
Gene: ENSMUSG00000030760

DomainStartEndE-ValueType
Pfam:Ceramidase 8 90 8.9e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151258
AA Change: Y119C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116127
Gene: ENSMUSG00000030760
AA Change: Y119C

DomainStartEndE-ValueType
Pfam:Ceramidase 8 172 5.5e-63 PFAM
Meta Mutation Damage Score 0.4726 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging Het
Other mutations in Acer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Acer3 APN 7 97,866,072 (GRCm39) missense probably benign 0.04
IGL01763:Acer3 APN 7 97,915,339 (GRCm39) splice site probably benign
IGL02550:Acer3 APN 7 97,873,185 (GRCm39) missense probably benign 0.00
IGL02694:Acer3 APN 7 97,866,084 (GRCm39) missense probably benign 0.11
R0278:Acer3 UTSW 7 97,910,804 (GRCm39) missense probably damaging 1.00
R4777:Acer3 UTSW 7 97,910,804 (GRCm39) missense probably damaging 1.00
R4887:Acer3 UTSW 7 97,906,908 (GRCm39) missense possibly damaging 0.91
R5243:Acer3 UTSW 7 97,867,277 (GRCm39) missense possibly damaging 0.94
R6338:Acer3 UTSW 7 97,906,922 (GRCm39) missense probably damaging 0.98
R6534:Acer3 UTSW 7 97,875,655 (GRCm39) missense probably benign 0.02
R8845:Acer3 UTSW 7 97,910,832 (GRCm39) missense probably damaging 1.00
R9367:Acer3 UTSW 7 97,908,621 (GRCm39) missense probably damaging 0.98
X0017:Acer3 UTSW 7 97,873,191 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GCTGGAGATGAGAAgagttggttaagag -3'
(R):5'- GTGACTATTGCTGATCCCATTTGCCT -3'

Sequencing Primer
(F):5'- agattcagttcccagcatcc -3'
(R):5'- ttttttcctttttctcttcttttccc -3'
Posted On 2013-11-08