Incidental Mutation 'R0497:Asah2'
ID 40569
Institutional Source Beutler Lab
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
MMRRC Submission 038693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R0497 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32032031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 46 (N46I)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably benign
Transcript: ENSMUST00000096119
AA Change: N46I

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: N46I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A C 11: 119,909,606 (GRCm39) V110G probably damaging Het
Adcy6 A C 15: 98,495,606 (GRCm39) probably null Het
Adm A G 7: 110,228,328 (GRCm39) T170A probably benign Het
Afap1l2 G T 19: 56,918,641 (GRCm39) N171K probably benign Het
Aph1b G T 9: 66,697,900 (GRCm39) S112* probably null Het
Arhgap23 A G 11: 97,342,989 (GRCm39) S424G probably damaging Het
Braf G A 6: 39,617,483 (GRCm39) probably benign Het
Brd2 C T 17: 34,333,334 (GRCm39) R47Q probably damaging Het
C2cd5 A G 6: 142,957,819 (GRCm39) V972A probably benign Het
Car9 T A 4: 43,511,881 (GRCm39) L300H probably damaging Het
Chmp3 T C 6: 71,529,395 (GRCm39) S20P probably damaging Het
Chp1 A G 2: 119,402,263 (GRCm39) N79S possibly damaging Het
Cnot2 A T 10: 116,334,260 (GRCm39) I335N probably damaging Het
Cntnap4 T C 8: 113,296,783 (GRCm39) V6A probably benign Het
Ctcf T A 8: 106,401,672 (GRCm39) probably benign Het
Dennd1b A G 1: 138,967,724 (GRCm39) probably benign Het
Dnmbp A G 19: 43,845,079 (GRCm39) probably benign Het
Eef2 T C 10: 81,017,420 (GRCm39) F782L probably benign Het
Eogt T A 6: 97,112,194 (GRCm39) Y153F probably benign Het
Fam81a G T 9: 70,003,401 (GRCm39) Q237K possibly damaging Het
Fat2 T A 11: 55,174,228 (GRCm39) T2162S probably benign Het
Fcgbpl1 T A 7: 27,846,890 (GRCm39) C1158S probably damaging Het
Gas6 T C 8: 13,520,387 (GRCm39) I434V possibly damaging Het
Gm42417 A T 1: 36,571,248 (GRCm39) L77Q probably damaging Het
Grik3 A T 4: 125,517,303 (GRCm39) N49Y possibly damaging Het
Gucy2e A T 11: 69,114,985 (GRCm39) V974E probably damaging Het
Helz2 A G 2: 180,871,449 (GRCm39) V2721A probably damaging Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt73 A G 15: 101,710,665 (GRCm39) L23P probably damaging Het
L3mbtl3 T C 10: 26,158,772 (GRCm39) probably benign Het
Lrrc15 A T 16: 30,091,710 (GRCm39) V543E probably damaging Het
Med13 G A 11: 86,167,809 (GRCm39) probably benign Het
Med25 T C 7: 44,541,524 (GRCm39) D60G probably damaging Het
Mgam T A 6: 40,641,826 (GRCm39) Y560N probably damaging Het
Mlkl A G 8: 112,054,505 (GRCm39) Y211H probably damaging Het
Msl2 A G 9: 100,978,493 (GRCm39) N289S probably benign Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Omt2b T C 9: 78,235,513 (GRCm39) probably benign Het
Or4k37 A G 2: 111,159,175 (GRCm39) D137G probably benign Het
Pald1 A G 10: 61,177,094 (GRCm39) L652P probably damaging Het
Pard3b T A 1: 62,479,167 (GRCm39) probably null Het
Prdm15 G A 16: 97,595,534 (GRCm39) T1098I possibly damaging Het
Rock2 A G 12: 17,004,954 (GRCm39) T436A probably benign Het
Sema4c A T 1: 36,588,689 (GRCm39) D812E probably benign Het
Sla A T 15: 66,664,098 (GRCm39) I91K probably benign Het
Slc22a16 T G 10: 40,460,963 (GRCm39) M255R probably damaging Het
Slc49a4 A T 16: 35,555,974 (GRCm39) V162D probably benign Het
Smg8 C T 11: 86,976,910 (GRCm39) D224N possibly damaging Het
Spdef A T 17: 27,937,032 (GRCm39) D190E probably benign Het
Taok1 A G 11: 77,464,630 (GRCm39) I152T probably damaging Het
Tmem220 A G 11: 66,916,748 (GRCm39) D36G probably damaging Het
Tmem235 A C 11: 117,755,177 (GRCm39) I210L probably benign Het
Tmem266 C T 9: 55,288,168 (GRCm39) probably null Het
Tmprss12 A G 15: 100,178,920 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Usp38 T A 8: 81,711,053 (GRCm39) probably benign Het
Usp44 C T 10: 93,682,668 (GRCm39) P373S possibly damaging Het
Vmn1r209 G T 13: 22,990,118 (GRCm39) Q191K probably damaging Het
Vmn1r70 T C 7: 10,367,953 (GRCm39) I147T probably benign Het
Vmn2r107 T A 17: 20,595,394 (GRCm39) I649N probably damaging Het
Vmn2r12 A T 5: 109,239,755 (GRCm39) Y269* probably null Het
Zan C T 5: 137,410,938 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,306 (GRCm39) V192L probably benign Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zgrf1 T C 3: 127,378,299 (GRCm39) probably benign Het
Zhx3 A T 2: 160,621,914 (GRCm39) L751* probably null Het
Znfx1 T A 2: 166,897,331 (GRCm39) Q531L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AAGGAGCCAAGCGGTTTACCTACC -3'
(R):5'- CACTAGTCCAAGAGCAAGACTGTGC -3'

Sequencing Primer
(F):5'- CCAAATTGATATCTGACACTTGTCC -3'
(R):5'- GGTCTTTAAATGGGATATCAGGGAG -3'
Posted On 2013-05-23