Incidental Mutation 'R1332:Asah2'
ID 156756
Institutional Source Beutler Lab
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
MMRRC Submission 039397-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R1332 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32022341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 231 (I231T)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably damaging
Transcript: ENSMUST00000096119
AA Change: I231T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: I231T

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 0.7910 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 93.0%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik T TNNNNNNNNNNNNNNNNNN 11: 43,478,256 (GRCm39) probably benign Het
Abhd14b A T 9: 106,329,195 (GRCm39) I42F probably damaging Het
Apbb1 A T 7: 105,214,750 (GRCm39) I498N possibly damaging Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Caskin2 C T 11: 115,694,171 (GRCm39) probably benign Het
Ccdc141 T C 2: 76,844,784 (GRCm39) T1428A probably damaging Het
Cd22 A C 7: 30,569,912 (GRCm39) W477G possibly damaging Het
Cox16 T C 12: 81,519,064 (GRCm39) D89G probably damaging Het
Dnah17 A G 11: 117,934,041 (GRCm39) I3511T possibly damaging Het
Dpy19l4 A T 4: 11,276,901 (GRCm39) Y333N probably damaging Het
Eya2 T C 2: 165,529,528 (GRCm39) probably benign Het
Fras1 A G 5: 96,855,167 (GRCm39) D1892G probably benign Het
Hlf G T 11: 90,231,679 (GRCm39) S265* probably null Het
Immt T C 6: 71,823,256 (GRCm39) probably benign Het
Lair1 T C 7: 4,013,595 (GRCm39) E36G possibly damaging Het
Lrfn5 T C 12: 61,904,314 (GRCm39) probably benign Het
Nos1ap T C 1: 170,177,001 (GRCm39) N134S probably damaging Het
Ogfod1 T C 8: 94,784,727 (GRCm39) C344R probably damaging Het
Or6c212 A G 10: 129,559,116 (GRCm39) L99S probably damaging Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pmfbp1 T G 8: 110,256,898 (GRCm39) I534S probably damaging Het
Prex2 A G 1: 11,274,315 (GRCm39) D1329G probably damaging Het
Rasal2 T C 1: 157,003,391 (GRCm39) T423A probably benign Het
Rif1 T A 2: 51,968,326 (GRCm39) W170R probably benign Het
Scarb2 C T 5: 92,599,205 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tlr3 A C 8: 45,851,774 (GRCm39) N374K probably damaging Het
Uck1 T C 2: 32,149,666 (GRCm39) D71G probably damaging Het
Vcan C T 13: 89,841,174 (GRCm39) E497K probably damaging Het
Vmn2r86 G A 10: 130,282,739 (GRCm39) L626F probably damaging Het
Vmn2r89 A G 14: 51,692,559 (GRCm39) T121A probably benign Het
Wdr64 T C 1: 175,622,706 (GRCm39) S828P possibly damaging Het
Zfp334 A T 2: 165,222,776 (GRCm39) H422Q 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
IGL02228:Asah2 APN 19 31,994,114 (GRCm39) missense probably benign 0.09
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
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
Predicted Primers PCR Primer
(F):5'- GCATCTACTGTCATCCAAGTCTCCG -3'
(R):5'- GACACTGATCCTGTGATTCTCCAGC -3'

Sequencing Primer
(F):5'- GTGTGGCTTCCCACAGAAAAC -3'
(R):5'- GCTCACACAAATCTTAAACCAGG -3'
Posted On 2014-02-11