Incidental Mutation 'R0302:Asah2'
ID 24886
Institutional Source Beutler Lab
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
MMRRC Submission 038514-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R0302 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 31984654-32061469 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32052956 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 105 (N105K)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably benign
Transcript: ENSMUST00000096119
AA Change: N105K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: N105K

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
Meta Mutation Damage Score 0.1394 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl2 T C 4: 126,317,392 (GRCm38) E244G probably benign Het
Aldh1l2 G A 10: 83,520,365 (GRCm38) P54S probably damaging Het
Ankdd1a G A 9: 65,509,642 (GRCm38) probably benign Het
Ankra2 T A 13: 98,271,692 (GRCm38) S216R probably damaging Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Cacna1s A G 1: 136,100,604 (GRCm38) Y893C probably benign Het
Capza2 G A 6: 17,648,524 (GRCm38) R15H probably benign Het
Cbfa2t2 T C 2: 154,534,876 (GRCm38) probably benign Het
Ccdc96 A T 5: 36,486,101 (GRCm38) T484S possibly damaging Het
Cckar GCTTAGCCTCTTCT GCT 5: 53,700,299 (GRCm38) probably null Het
Ccl4 T A 11: 83,663,454 (GRCm38) probably benign Het
Cpt1b A G 15: 89,417,870 (GRCm38) Y702H probably benign Het
Cr1l G A 1: 195,117,793 (GRCm38) T153I probably damaging Het
Cyth2 C A 7: 45,810,585 (GRCm38) E57* probably null Het
Daxx T A 17: 33,913,620 (GRCm38) S575T probably damaging Het
Depdc5 T C 5: 32,904,546 (GRCm38) probably benign Het
Dnah12 A G 14: 26,799,999 (GRCm38) D1923G probably damaging Het
Dnah7b A G 1: 46,123,777 (GRCm38) T428A probably benign Het
Dnm2 G T 9: 21,500,343 (GRCm38) A619S probably benign Het
Enpp2 T C 15: 54,860,061 (GRCm38) T639A probably benign Het
Epsti1 A T 14: 77,939,926 (GRCm38) H182L probably damaging Het
Exoc3l C T 8: 105,293,543 (GRCm38) R250Q probably benign Het
Ggn G T 7: 29,171,240 (GRCm38) probably null Het
Il1rap A G 16: 26,692,794 (GRCm38) N196S probably benign Het
Ints6 T C 14: 62,709,512 (GRCm38) T335A probably damaging Het
Itga1 G A 13: 115,012,318 (GRCm38) probably benign Het
Kifc3 G T 8: 95,103,470 (GRCm38) Q557K possibly damaging Het
Krt23 A G 11: 99,478,201 (GRCm38) I422T probably benign Het
Lcn2 A G 2: 32,384,889 (GRCm38) probably benign Het
Lonp2 A G 8: 86,637,991 (GRCm38) T326A possibly damaging Het
Lrpprc T C 17: 84,740,078 (GRCm38) I909V possibly damaging Het
Lrrc14 G T 15: 76,714,352 (GRCm38) R396L probably benign Het
Lypd6 T G 2: 50,165,667 (GRCm38) probably benign Het
Man2b1 A G 8: 85,093,016 (GRCm38) N610S probably damaging Het
Map2 A T 1: 66,414,828 (GRCm38) N959I probably benign Het
Mctp2 C T 7: 72,090,264 (GRCm38) V793I possibly damaging Het
Med25 A C 7: 44,880,558 (GRCm38) probably benign Het
Mfsd6 T C 1: 52,709,457 (GRCm38) Y83C probably damaging Het
Mtbp A T 15: 55,625,424 (GRCm38) M499L probably damaging Het
Mtmr10 A T 7: 64,297,497 (GRCm38) K53N probably damaging Het
Nfat5 T C 8: 107,358,701 (GRCm38) I542T probably damaging Het
Nr1h3 A G 2: 91,192,013 (GRCm38) M90T probably damaging Het
Nsmce4a A G 7: 130,545,893 (GRCm38) probably benign Het
Olfr1168 T A 2: 88,185,510 (GRCm38) I211N possibly damaging Het
Oprl1 G A 2: 181,719,228 (GRCm38) C318Y probably benign Het
Pbx3 A T 2: 34,224,560 (GRCm38) S46T probably benign Het
Pign A T 1: 105,589,093 (GRCm38) F575I possibly damaging Het
Ptpn13 G T 5: 103,565,225 (GRCm38) S1738I probably benign Het
Rnf126 G T 10: 79,759,223 (GRCm38) P269Q probably damaging Het
Ryr3 G A 2: 112,647,123 (GRCm38) probably benign Het
Slc2a7 C T 4: 150,149,521 (GRCm38) A31V probably damaging Het
Slc6a12 A G 6: 121,363,259 (GRCm38) D487G probably damaging Het
Son G T 16: 91,656,144 (GRCm38) G593V probably damaging Het
Spata31d1a T C 13: 59,703,150 (GRCm38) N388S probably benign Het
Spg11 A T 2: 122,092,187 (GRCm38) M927K possibly damaging Het
Taf13 A G 3: 108,571,722 (GRCm38) M1V probably null Het
Trim32 G A 4: 65,613,254 (GRCm38) R16Q probably damaging Het
Trio A G 15: 27,902,517 (GRCm38) F286S probably damaging Het
Trpm2 A C 10: 77,943,990 (GRCm38) probably benign Het
Ttc7b T C 12: 100,387,179 (GRCm38) M390V possibly damaging Het
Vmn1r184 A T 7: 26,267,543 (GRCm38) Q238L probably damaging Het
Zfp236 T C 18: 82,658,088 (GRCm38) E368G probably damaging Het
Zfr2 G T 10: 81,251,336 (GRCm38) probably benign Het
Other mutations in Asah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Asah2 APN 19 32,008,681 (GRCm38) splice site probably benign
IGL02001:Asah2 APN 19 32,043,539 (GRCm38) nonsense probably null
IGL02228:Asah2 APN 19 32,016,714 (GRCm38) missense probably benign 0.09
IGL02377:Asah2 APN 19 32,009,414 (GRCm38) missense probably benign 0.30
IGL03070:Asah2 APN 19 32,006,344 (GRCm38) missense probably damaging 1.00
IGL03233:Asah2 APN 19 32,054,631 (GRCm38) missense probably benign 0.18
IGL03244:Asah2 APN 19 31,986,942 (GRCm38) missense probably damaging 1.00
R0008:Asah2 UTSW 19 32,003,731 (GRCm38) nonsense probably null
R0103:Asah2 UTSW 19 32,018,977 (GRCm38) missense probably benign 0.01
R0103:Asah2 UTSW 19 32,018,977 (GRCm38) missense probably benign 0.01
R0497:Asah2 UTSW 19 32,054,631 (GRCm38) missense probably benign 0.18
R0614:Asah2 UTSW 19 32,016,728 (GRCm38) missense probably damaging 1.00
R0639:Asah2 UTSW 19 32,008,639 (GRCm38) missense probably damaging 0.99
R0715:Asah2 UTSW 19 32,016,776 (GRCm38) missense probably damaging 0.97
R1332:Asah2 UTSW 19 32,044,941 (GRCm38) missense probably damaging 1.00
R1336:Asah2 UTSW 19 32,044,941 (GRCm38) missense probably damaging 1.00
R2045:Asah2 UTSW 19 32,052,956 (GRCm38) missense probably benign 0.01
R2062:Asah2 UTSW 19 32,024,874 (GRCm38) missense probably damaging 0.99
R4083:Asah2 UTSW 19 31,986,784 (GRCm38) missense probably benign 0.01
R4698:Asah2 UTSW 19 32,054,471 (GRCm38) splice site probably null
R4731:Asah2 UTSW 19 31,995,358 (GRCm38) missense probably benign 0.41
R4732:Asah2 UTSW 19 31,995,358 (GRCm38) missense probably benign 0.41
R4733:Asah2 UTSW 19 31,995,358 (GRCm38) missense probably benign 0.41
R4773:Asah2 UTSW 19 32,052,858 (GRCm38) missense probably damaging 1.00
R4930:Asah2 UTSW 19 32,052,906 (GRCm38) missense probably benign 0.35
R5081:Asah2 UTSW 19 32,014,308 (GRCm38) missense probably benign 0.07
R5741:Asah2 UTSW 19 32,008,615 (GRCm38) missense probably damaging 1.00
R5873:Asah2 UTSW 19 32,003,682 (GRCm38) critical splice donor site probably null
R5905:Asah2 UTSW 19 32,016,514 (GRCm38) missense probably damaging 1.00
R6027:Asah2 UTSW 19 32,044,951 (GRCm38) missense probably benign 0.01
R6028:Asah2 UTSW 19 32,016,514 (GRCm38) missense probably damaging 1.00
R6187:Asah2 UTSW 19 32,024,867 (GRCm38) missense probably damaging 0.99
R6667:Asah2 UTSW 19 31,995,358 (GRCm38) missense probably benign 0.41
R6968:Asah2 UTSW 19 32,012,513 (GRCm38) missense probably benign
R7010:Asah2 UTSW 19 32,054,554 (GRCm38) missense probably benign 0.00
R7404:Asah2 UTSW 19 32,057,854 (GRCm38) missense probably benign 0.13
R7575:Asah2 UTSW 19 32,016,703 (GRCm38) missense probably benign 0.11
R7797:Asah2 UTSW 19 32,022,361 (GRCm38) missense probably damaging 1.00
R8492:Asah2 UTSW 19 32,006,259 (GRCm38) missense probably benign 0.25
R8682:Asah2 UTSW 19 32,052,877 (GRCm38) missense probably damaging 1.00
R8766:Asah2 UTSW 19 32,057,880 (GRCm38) missense possibly damaging 0.46
R8873:Asah2 UTSW 19 32,044,888 (GRCm38) critical splice donor site probably null
R8974:Asah2 UTSW 19 32,052,905 (GRCm38) missense probably benign
R9088:Asah2 UTSW 19 32,052,960 (GRCm38) missense probably damaging 1.00
R9405:Asah2 UTSW 19 32,008,645 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGTACAGAGTTCCTGTCAAGGGCG -3'
(R):5'- GAAGTCTCCTGAGGATGCAACCAC -3'

Sequencing Primer
(F):5'- GTCCACAGAGCCCTTTCCAG -3'
(R):5'- ctctctctctctctctctctctc -3'
Posted On 2013-04-16