Incidental Mutation 'IGL02001:Asah2'
ID183046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene NameN-acylsphingosine amidohydrolase 2
Synonymsneutral/alkaline ceramidase
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL02001
Quality Score
Status
Chromosome19
Chromosomal Location31984654-32061469 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 32043539 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 255 (K255*)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
Predicted Effect probably null
Transcript: ENSMUST00000096119
AA Change: K255*
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: K255*

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,067,277 M268K probably benign Het
A530064D06Rik T C 17: 48,166,674 N25S possibly damaging Het
Als2 A T 1: 59,180,188 probably benign Het
Bclaf1 A G 10: 20,323,016 probably benign Het
Bpifb2 T C 2: 153,891,275 probably benign Het
Cacna2d2 G A 9: 107,522,116 V669I probably benign Het
Cep89 T A 7: 35,403,007 probably benign Het
Chl1 T G 6: 103,642,056 L29R possibly damaging Het
Defb2 T C 8: 21,843,337 Y43H probably damaging Het
Disc1 A G 8: 125,251,042 Y799C probably damaging Het
Egf G T 3: 129,716,768 A34E probably damaging Het
Fat2 A T 11: 55,312,245 M1K probably null Het
Gprin1 T C 13: 54,739,192 E423G probably damaging Het
Kcnh6 T C 11: 106,027,549 probably benign Het
Kcnt1 A G 2: 25,908,152 E925G probably damaging Het
Kctd16 A T 18: 40,258,680 K107I possibly damaging Het
Lrig1 T C 6: 94,607,324 K913R probably benign Het
March7 A G 2: 60,234,891 T504A possibly damaging Het
Mrpl11 C T 19: 4,963,652 R154* probably null Het
Nlrp4a T C 7: 26,449,969 F334L probably benign Het
Olfr30 C T 11: 58,455,509 V147M probably benign Het
Olfr545 T A 7: 102,494,539 T79S probably benign Het
Parp6 A G 9: 59,649,961 T610A possibly damaging Het
Pcdhb15 T G 18: 37,474,038 L108V probably benign Het
Pomgnt1 G T 4: 116,152,908 E156* probably null Het
Psma2 T G 13: 14,623,607 F105V possibly damaging Het
Rapgef4 A G 2: 72,225,052 probably benign Het
Sclt1 A T 3: 41,681,721 S282T possibly damaging Het
Serpina3f A G 12: 104,219,466 Y310C probably damaging Het
Sh3pxd2a T C 19: 47,273,447 K331R probably damaging Het
Tectb T C 19: 55,189,595 F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 H327R probably damaging Het
Try10 T A 6: 41,356,589 D89E probably benign Het
Ttn G A 2: 76,756,784 S21623L probably damaging Het
Ttn A G 2: 76,781,938 L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,031,388 noncoding transcript Het
Vmn2r69 T A 7: 85,407,226 Q568L probably benign Het
Wdr36 T A 18: 32,852,888 D548E probably damaging Het
Zfand4 T A 6: 116,273,652 H14Q probably benign Het
Other mutations in Asah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Asah2 APN 19 32008681 splice site probably benign
IGL02228:Asah2 APN 19 32016714 missense probably benign 0.09
IGL02377:Asah2 APN 19 32009414 missense probably benign 0.30
IGL03070:Asah2 APN 19 32006344 missense probably damaging 1.00
IGL03233:Asah2 APN 19 32054631 missense probably benign 0.18
IGL03244:Asah2 APN 19 31986942 missense probably damaging 1.00
R0008:Asah2 UTSW 19 32003731 nonsense probably null
R0103:Asah2 UTSW 19 32018977 missense probably benign 0.01
R0103:Asah2 UTSW 19 32018977 missense probably benign 0.01
R0302:Asah2 UTSW 19 32052956 missense probably benign 0.01
R0497:Asah2 UTSW 19 32054631 missense probably benign 0.18
R0614:Asah2 UTSW 19 32016728 missense probably damaging 1.00
R0639:Asah2 UTSW 19 32008639 missense probably damaging 0.99
R0715:Asah2 UTSW 19 32016776 missense probably damaging 0.97
R1332:Asah2 UTSW 19 32044941 missense probably damaging 1.00
R1336:Asah2 UTSW 19 32044941 missense probably damaging 1.00
R2045:Asah2 UTSW 19 32052956 missense probably benign 0.01
R2062:Asah2 UTSW 19 32024874 missense probably damaging 0.99
R4083:Asah2 UTSW 19 31986784 missense probably benign 0.01
R4698:Asah2 UTSW 19 32054471 splice site probably null
R4731:Asah2 UTSW 19 31995358 missense probably benign 0.41
R4732:Asah2 UTSW 19 31995358 missense probably benign 0.41
R4733:Asah2 UTSW 19 31995358 missense probably benign 0.41
R4773:Asah2 UTSW 19 32052858 missense probably damaging 1.00
R4930:Asah2 UTSW 19 32052906 missense probably benign 0.35
R5081:Asah2 UTSW 19 32014308 missense probably benign 0.07
R5741:Asah2 UTSW 19 32008615 missense probably damaging 1.00
R5873:Asah2 UTSW 19 32003682 critical splice donor site probably null
R5905:Asah2 UTSW 19 32016514 missense probably damaging 1.00
R6027:Asah2 UTSW 19 32044951 missense probably benign 0.01
R6028:Asah2 UTSW 19 32016514 missense probably damaging 1.00
R6187:Asah2 UTSW 19 32024867 missense probably damaging 0.99
R6667:Asah2 UTSW 19 31995358 missense probably benign 0.41
R6968:Asah2 UTSW 19 32012513 missense probably benign
R7010:Asah2 UTSW 19 32054554 missense probably benign 0.00
Posted On2014-05-07