Incidental Mutation 'R6187:Asah2'
ID 502283
Institutional Source Beutler Lab
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
MMRRC Submission 044327-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R6187 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32002267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 292 (S292R)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect probably damaging
Transcript: ENSMUST00000096119
AA Change: S292R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: S292R

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 0.8104 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,259,085 (GRCm39) L2937H probably damaging Het
Abca3 A G 17: 24,627,141 (GRCm39) I1281V possibly damaging Het
Adam2 A T 14: 66,306,068 (GRCm39) S138T possibly damaging Het
Adamts4 C T 1: 171,078,562 (GRCm39) P61S probably damaging Het
Adamts6 C T 13: 104,433,933 (GRCm39) P121S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ak1 G A 2: 32,523,489 (GRCm39) V186M probably damaging Het
Alpk1 T C 3: 127,466,991 (GRCm39) Y1096C probably damaging Het
Ankrd29 A C 18: 12,412,747 (GRCm39) Y73* probably null Het
Atp6v1b1 A T 6: 83,729,377 (GRCm39) T105S probably damaging Het
Axdnd1 T A 1: 156,193,182 (GRCm39) probably null Het
Bub1b T G 2: 118,461,481 (GRCm39) S678A probably damaging Het
Cdcp3 G A 7: 130,872,328 (GRCm39) probably benign Het
Cenpq T A 17: 41,238,089 (GRCm39) M142L probably benign Het
Ciz1 T A 2: 32,260,063 (GRCm39) V203E possibly damaging Het
Cmklr2 T C 1: 63,222,434 (GRCm39) E267G probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Cyp2c68 A T 19: 39,729,452 (GRCm39) S12T probably benign Het
Cyp4f18 C A 8: 72,747,030 (GRCm39) A322S probably damaging Het
Disp2 A G 2: 118,622,624 (GRCm39) S1119G probably damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Faxc A G 4: 21,958,445 (GRCm39) T201A possibly damaging Het
Fbxw14 A G 9: 109,105,332 (GRCm39) S278P probably damaging Het
Fpr1 G T 17: 18,097,190 (GRCm39) C266* probably null Het
Fsip2 T C 2: 82,812,798 (GRCm39) I3039T probably benign Het
Gas1 G T 13: 60,324,186 (GRCm39) S190R possibly damaging Het
Gemin2 A G 12: 59,060,371 (GRCm39) T37A probably damaging Het
Gm21370 T C 13: 120,488,403 (GRCm39) I49V probably benign Het
Gm8444 T C 15: 81,727,807 (GRCm39) probably benign Het
Gria1 A G 11: 57,128,936 (GRCm39) D401G possibly damaging Het
Gstk1 G A 6: 42,226,794 (GRCm39) V187I possibly damaging Het
Hmcn1 T C 1: 150,506,479 (GRCm39) D3776G probably damaging Het
Itfg1 A C 8: 86,563,094 (GRCm39) V102G probably damaging Het
Kidins220 A G 12: 25,101,307 (GRCm39) probably null Het
Kif13b A C 14: 64,973,664 (GRCm39) D338A probably damaging Het
Mab21l2 T C 3: 86,454,565 (GRCm39) Y145C probably damaging Het
Magel2 A G 7: 62,027,389 (GRCm39) M98V unknown Het
Mdfic T C 6: 15,721,196 (GRCm39) probably benign Het
Minar1 A G 9: 89,473,220 (GRCm39) I897T probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mycbp2 A G 14: 103,384,453 (GRCm39) L3475P probably damaging Het
Myh14 G A 7: 44,276,457 (GRCm39) T1216I probably damaging Het
Nfatc2 T A 2: 168,322,158 (GRCm39) I914F probably benign Het
Nup58 T C 14: 60,478,256 (GRCm39) probably null Het
Or10ag53 T A 2: 87,083,042 (GRCm39) S254T probably damaging Het
Or10al4 T C 17: 38,037,032 (GRCm39) L48P probably damaging Het
Or13a22 A G 7: 140,072,529 (GRCm39) probably benign Het
Or2y13 G T 11: 49,414,338 (GRCm39) probably benign Het
Or4l15 A G 14: 50,198,526 (GRCm39) M1T probably null Het
Or5p50 A T 7: 107,421,781 (GRCm39) N298K probably benign Het
Or7g20 A C 9: 18,946,689 (GRCm39) Q90P probably benign Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Oxr1 A G 15: 41,689,315 (GRCm39) Q513R probably damaging Het
Padi1 C T 4: 140,554,276 (GRCm39) V310M probably damaging Het
Pard3 T C 8: 127,800,023 (GRCm39) L11S probably benign Het
Pcdhb14 A T 18: 37,581,497 (GRCm39) D201V probably damaging Het
Pcdhb7 A G 18: 37,475,622 (GRCm39) R253G probably benign Het
Plxnb2 C T 15: 89,051,461 (GRCm39) D253N probably damaging Het
Ppp2cb T C 8: 34,105,502 (GRCm39) S171P probably damaging Het
Prr5 C T 15: 84,577,973 (GRCm39) T94M probably damaging Het
Rp1 A G 1: 4,420,092 (GRCm39) F340S probably damaging Het
Rpa1 C G 11: 75,201,062 (GRCm39) G433A probably benign Het
Smg1 A T 7: 117,788,386 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Homo
Svep1 C T 4: 58,072,872 (GRCm39) G2146R probably damaging Het
Tas2r106 A G 6: 131,655,173 (GRCm39) M226T probably damaging Het
Tbk1 T C 10: 121,420,148 (GRCm39) I14V probably benign Het
Tekt4 G C 17: 25,691,197 (GRCm39) V168L probably damaging Het
Tnfaip1 T A 11: 78,418,372 (GRCm39) T232S probably damaging Het
Trio C T 15: 27,744,038 (GRCm39) probably null Het
Ttn T A 2: 76,774,781 (GRCm39) Y2133F unknown Het
Uap1l1 C T 2: 25,252,741 (GRCm39) R433H probably damaging Het
Ugt2b35 T C 5: 87,155,181 (GRCm39) F339L probably damaging Het
Unc5b T C 10: 60,608,003 (GRCm39) Y699C probably damaging Het
Vcpip1 T C 1: 9,795,005 (GRCm39) H1122R probably damaging Het
Vmn2r91 T C 17: 18,326,888 (GRCm39) V391A probably benign Het
Vps13c C T 9: 67,822,939 (GRCm39) R1327W probably damaging Het
Yes1 A G 5: 32,802,385 (GRCm39) Y100C probably damaging Het
Zfp407 A T 18: 84,577,134 (GRCm39) N1326K possibly damaging Het
Zfp518a G A 19: 40,903,890 (GRCm39) C1273Y probably benign Het
Zfr AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA AGCAGCAGCA 15: 12,146,317 (GRCm39) 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
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
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
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'- ACCAGTGAATTCTCTCCATGC -3'
(R):5'- TTATGTGCCTCATTAGTGCAGTAGG -3'

Sequencing Primer
(F):5'- GTGAATTCTCTCCATGCAAGCACAG -3'
(R):5'- CAGTAGGTAATGGATCAGCCTCAC -3'
Posted On 2018-02-27