Incidental Mutation 'IGL03244:Asah2'
ID 414338
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
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock # IGL03244
Quality Score
Status
Chromosome 19
Chromosomal Location 31984654-32061469 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31986942 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 696 (Y696C)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably damaging
Transcript: ENSMUST00000096119
AA Change: Y696C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: Y696C

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoc1 T C 6: 48,905,822 Y233H possibly damaging Het
Apaf1 A T 10: 91,049,349 probably benign Het
Atp8b3 A T 10: 80,534,458 D112E probably damaging Het
B3gat3 T C 19: 8,925,851 Y191H probably damaging Het
Capns2 T C 8: 92,902,110 I209T probably damaging Het
Ccnl2 T C 4: 155,821,022 I303T probably benign Het
Cdk5rap2 A T 4: 70,281,435 S817R probably benign Het
Cep57 A T 9: 13,818,387 L36* probably null Het
Cers4 T A 8: 4,516,878 V60E probably damaging Het
Ces2e T C 8: 104,928,819 Y125H probably benign Het
Cyp4f18 T C 8: 71,988,645 E497G probably benign Het
Ddx24 A T 12: 103,417,605 M575K possibly damaging Het
Dmxl2 A T 9: 54,416,371 V1243E probably damaging Het
Elf2 A T 3: 51,257,772 Y270* probably null Het
Ep400 A G 5: 110,727,563 L844S unknown Het
F13a1 A T 13: 36,988,896 I170N possibly damaging Het
Gm16506 T A 14: 43,724,146 probably benign Het
Grm4 A G 17: 27,434,823 F463L probably damaging Het
H2-M10.2 A T 17: 36,285,571 N127K probably benign Het
Lrrc49 T C 9: 60,587,857 Y691C probably damaging Het
Mbip A C 12: 56,337,762 probably null Het
Olfr825 T A 10: 130,162,400 K309* probably null Het
Plod1 C T 4: 147,923,123 probably null Het
Primpol A G 8: 46,586,440 W382R probably damaging Het
Rufy2 A G 10: 63,004,704 E418G probably benign Het
Samm50 T C 15: 84,214,140 V460A probably benign Het
Senp2 T C 16: 22,040,579 V460A probably damaging Het
Simc1 A G 13: 54,550,629 H453R probably benign Het
Slc22a22 A G 15: 57,249,552 probably benign Het
Spag1 A T 15: 36,234,383 D763V probably benign Het
Thsd7a T A 6: 12,504,168 probably benign Het
Tppp G T 13: 74,021,416 V92F possibly damaging Het
Vmn1r32 G A 6: 66,553,505 L96F probably damaging Het
Vmn2r53 C A 7: 12,606,508 A13S probably damaging Het
Vmn2r75 G A 7: 86,171,725 probably benign Het
Zfp750 C A 11: 121,513,687 G121* probably null Het
Other mutations in Asah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Asah2 APN 19 32008681 splice site probably benign
IGL02001:Asah2 APN 19 32043539 nonsense probably null
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
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
R7404:Asah2 UTSW 19 32057854 missense probably benign 0.13
R7575:Asah2 UTSW 19 32016703 missense probably benign 0.11
R7797:Asah2 UTSW 19 32022361 missense probably damaging 1.00
R8492:Asah2 UTSW 19 32006259 missense probably benign 0.25
R8682:Asah2 UTSW 19 32052877 missense probably damaging 1.00
R8766:Asah2 UTSW 19 32057880 missense possibly damaging 0.46
R8873:Asah2 UTSW 19 32044888 critical splice donor site probably null
R8974:Asah2 UTSW 19 32052905 missense probably benign
R9088:Asah2 UTSW 19 32052960 missense probably damaging 1.00
R9405:Asah2 UTSW 19 32008645 missense possibly damaging 0.82
Posted On 2016-08-02