Incidental Mutation 'IGL02228:Asah2'
ID 285384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # IGL02228
Quality Score
Status
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31994114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 410 (D410E)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably benign
Transcript: ENSMUST00000096119
AA Change: D410E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: D410E

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
Pfam:Ceramidase_alk 78 584 1.4e-222 PFAM
Pfam:Ceramidse_alk_C 586 753 8e-50 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,738 (GRCm39) V282A probably benign Het
Acsm5 A G 7: 119,131,089 (GRCm39) D169G probably damaging Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Crat T C 2: 30,303,194 (GRCm39) H31R probably damaging Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lcp2 T C 11: 33,997,424 (GRCm39) F24S probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Ufl1 A T 4: 25,281,686 (GRCm39) S23T probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N probably damaging Het
Other mutations in Asah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Asah2 APN 19 31,986,081 (GRCm39) splice site probably benign
IGL02001:Asah2 APN 19 32,020,939 (GRCm39) nonsense probably null
IGL02377:Asah2 APN 19 31,986,814 (GRCm39) missense probably benign 0.30
IGL03070:Asah2 APN 19 31,983,744 (GRCm39) missense probably damaging 1.00
IGL03233:Asah2 APN 19 32,032,031 (GRCm39) missense probably benign 0.18
IGL03244:Asah2 APN 19 31,964,342 (GRCm39) missense probably damaging 1.00
R0008:Asah2 UTSW 19 31,981,131 (GRCm39) nonsense probably null
R0103:Asah2 UTSW 19 31,996,377 (GRCm39) missense probably benign 0.01
R0103:Asah2 UTSW 19 31,996,377 (GRCm39) missense probably benign 0.01
R0302:Asah2 UTSW 19 32,030,356 (GRCm39) missense probably benign 0.01
R0497:Asah2 UTSW 19 32,032,031 (GRCm39) missense probably benign 0.18
R0614:Asah2 UTSW 19 31,994,128 (GRCm39) missense probably damaging 1.00
R0639:Asah2 UTSW 19 31,986,039 (GRCm39) missense probably damaging 0.99
R0715:Asah2 UTSW 19 31,994,176 (GRCm39) missense probably damaging 0.97
R1332:Asah2 UTSW 19 32,022,341 (GRCm39) missense probably damaging 1.00
R1336:Asah2 UTSW 19 32,022,341 (GRCm39) missense probably damaging 1.00
R2045:Asah2 UTSW 19 32,030,356 (GRCm39) missense probably benign 0.01
R2062:Asah2 UTSW 19 32,002,274 (GRCm39) missense probably damaging 0.99
R4083:Asah2 UTSW 19 31,964,184 (GRCm39) missense probably benign 0.01
R4698:Asah2 UTSW 19 32,031,871 (GRCm39) splice site probably null
R4731:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4732:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4733:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R4773:Asah2 UTSW 19 32,030,258 (GRCm39) missense probably damaging 1.00
R4930:Asah2 UTSW 19 32,030,306 (GRCm39) missense probably benign 0.35
R5081:Asah2 UTSW 19 31,991,708 (GRCm39) missense probably benign 0.07
R5741:Asah2 UTSW 19 31,986,015 (GRCm39) missense probably damaging 1.00
R5873:Asah2 UTSW 19 31,981,082 (GRCm39) critical splice donor site probably null
R5905:Asah2 UTSW 19 31,993,914 (GRCm39) missense probably damaging 1.00
R6027:Asah2 UTSW 19 32,022,351 (GRCm39) missense probably benign 0.01
R6028:Asah2 UTSW 19 31,993,914 (GRCm39) missense probably damaging 1.00
R6187:Asah2 UTSW 19 32,002,267 (GRCm39) missense probably damaging 0.99
R6667:Asah2 UTSW 19 31,972,758 (GRCm39) missense probably benign 0.41
R6968:Asah2 UTSW 19 31,989,913 (GRCm39) missense probably benign
R7010:Asah2 UTSW 19 32,031,954 (GRCm39) missense probably benign 0.00
R7404:Asah2 UTSW 19 32,035,254 (GRCm39) missense probably benign 0.13
R7575:Asah2 UTSW 19 31,994,103 (GRCm39) missense probably benign 0.11
R7797:Asah2 UTSW 19 31,999,761 (GRCm39) missense probably damaging 1.00
R8492:Asah2 UTSW 19 31,983,659 (GRCm39) missense probably benign 0.25
R8682:Asah2 UTSW 19 32,030,277 (GRCm39) missense probably damaging 1.00
R8766:Asah2 UTSW 19 32,035,280 (GRCm39) missense possibly damaging 0.46
R8873:Asah2 UTSW 19 32,022,288 (GRCm39) critical splice donor site probably null
R8974:Asah2 UTSW 19 32,030,305 (GRCm39) missense probably benign
R9088:Asah2 UTSW 19 32,030,360 (GRCm39) missense probably damaging 1.00
R9405:Asah2 UTSW 19 31,986,045 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16