Incidental Mutation 'R0625:Acer2'
ID57404
Institutional Source Beutler Lab
Gene Symbol Acer2
Ensembl Gene ENSMUSG00000038007
Gene Namealkaline ceramidase 2
Synonyms2410116I05Rik, Asah3l
MMRRC Submission 038814-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #R0625 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location86874396-86934822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86887162 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000081473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045224] [ENSMUST00000084433]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045224
AA Change: D121G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040048
Gene: ENSMUSG00000038007
AA Change: D121G

DomainStartEndE-ValueType
Pfam:Ceramidase 6 261 1.1e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000084433
AA Change: D121G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081473
Gene: ENSMUSG00000038007
AA Change: D121G

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,408,065 S2P probably benign Het
Abca16 A C 7: 120,435,893 T301P probably damaging Het
Adgrd1 T C 5: 129,171,931 probably null Het
Arhgap11a T C 2: 113,841,711 I249V probably benign Het
Arhgap22 A G 14: 33,366,714 E219G probably benign Het
C2cd4b T A 9: 67,759,751 S10T probably benign Het
Cnot6 A T 11: 49,683,171 I224N probably damaging Het
Ctrc T C 4: 141,841,518 T125A probably damaging Het
Cxxc5 T G 18: 35,858,589 S14R unknown Het
Cyp4f37 T G 17: 32,634,678 F445L probably damaging Het
Dcbld1 T G 10: 52,312,850 I186S probably benign Het
Dmxl2 T C 9: 54,382,702 T2510A probably benign Het
Dnah3 A G 7: 120,071,887 I591T possibly damaging Het
Dock5 A T 14: 67,841,163 I204N probably benign Het
Dysf G A 6: 84,111,987 probably null Het
Erich5 A G 15: 34,471,369 E248G probably damaging Het
Fam160a1 A G 3: 85,730,500 V164A possibly damaging Het
Foxm1 A G 6: 128,373,871 S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 T959A probably benign Het
Gfra4 C T 2: 131,040,256 V277I probably null Het
Hacd4 T C 4: 88,435,010 I82V probably benign Het
Itih2 C T 2: 10,123,414 V159I possibly damaging Het
Itpr2 T A 6: 146,166,651 M2410L probably benign Het
March11 A G 15: 26,311,043 I202V probably damaging Het
March3 A G 18: 56,811,830 probably null Het
Med12l G A 3: 59,247,437 E1135K probably damaging Het
Mib2 C T 4: 155,659,460 G42S probably damaging Het
Mlx T C 11: 101,087,782 L78P possibly damaging Het
Muc5b T C 7: 141,846,427 C473R unknown Het
N4bp2l1 T A 5: 150,576,745 R66* probably null Het
Nes A G 3: 87,977,172 T913A possibly damaging Het
Oas1a T C 5: 120,899,259 E235G probably damaging Het
Olfr1104 T A 2: 87,021,620 H308L probably benign Het
Olfr477 T C 7: 107,991,189 S275P probably damaging Het
Olfr905 T C 9: 38,473,208 S154P possibly damaging Het
Parn C T 16: 13,640,294 V286I probably benign Het
Paxip1 G A 5: 27,765,942 Q470* probably null Het
Phc2 C G 4: 128,723,710 H510D possibly damaging Het
Pla2g4f T A 2: 120,305,041 D384V probably damaging Het
Plpbp A T 8: 27,045,131 N68I probably damaging Het
Podxl2 G A 6: 88,849,955 A123V possibly damaging Het
Pole A T 5: 110,325,550 T1737S possibly damaging Het
Ppp3cc T C 14: 70,225,027 E396G probably damaging Het
Pramel7 T A 2: 87,491,008 I228F probably benign Het
Prl7d1 A T 13: 27,710,140 C149S probably benign Het
Qtrt1 G T 9: 21,418,288 M217I probably benign Het
Sec24a T A 11: 51,729,454 D456V probably damaging Het
Shox2 T G 3: 66,981,544 probably null Het
Skint2 T A 4: 112,624,086 S49T probably damaging Het
Smarca5 A G 8: 80,720,686 probably null Het
Sorcs2 T A 5: 36,024,572 D1068V possibly damaging Het
Tmem114 T C 16: 8,412,102 probably null Het
Ttc7b T A 12: 100,355,046 M24L probably benign Het
Ttll3 A G 6: 113,408,903 probably null Het
Usp7 C T 16: 8,704,982 D102N probably benign 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
R0734:Acer2 UTSW 4 86917559 missense probably benign 0.25
R4273:Acer2 UTSW 4 86874598 critical splice donor site probably null
R4384:Acer2 UTSW 4 86874568 missense possibly damaging 0.74
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'- TGATTCTGACAGCTCCCAGAGAAGG -3'
(R):5'- TGGCTTGCACTGGATGATATACGC -3'

Sequencing Primer
(F):5'- AAGCCGCGAGTCTGTTCTG -3'
(R):5'- GAAGTGTTTTCACCCAGATCAG -3'
Posted On2013-07-11