Incidental Mutation 'R9405:Asah2'
ID 711507
Institutional Source Beutler Lab
Gene Symbol Asah2
Ensembl Gene ENSMUSG00000024887
Gene Name N-acylsphingosine amidohydrolase 2
Synonyms neutral/alkaline ceramidase
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R9405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 31962046-32080540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31986045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 542 (T542P)
Ref Sequence ENSEMBL: ENSMUSP00000093830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096119]
AlphaFold Q9JHE3
Predicted Effect possibly damaging
Transcript: ENSMUST00000096119
AA Change: T542P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093830
Gene: ENSMUSG00000024887
AA Change: T542P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T A 9: 118,978,506 (GRCm39) Q277L probably damaging Het
Adamts18 A G 8: 114,430,030 (GRCm39) V1135A probably damaging Het
Apobr A G 7: 126,184,704 (GRCm39) S72G possibly damaging Het
Arl13b T A 16: 62,632,260 (GRCm39) Q214L possibly damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Asns C T 6: 7,689,283 (GRCm39) C73Y probably damaging Het
Calhm2 T A 19: 47,124,108 (GRCm39) T79S probably benign Het
Cd300c2 T G 11: 114,891,587 (GRCm39) T96P probably damaging Het
Copb1 G A 7: 113,822,458 (GRCm39) T757I possibly damaging Het
Csmd3 T A 15: 47,539,187 (GRCm39) T1517S Het
Ddx60 T A 8: 62,425,248 (GRCm39) L679M probably benign Het
Dip2b A G 15: 100,093,757 (GRCm39) K1123R probably benign Het
Dnah17 A G 11: 118,009,737 (GRCm39) S612P probably benign Het
Dnah5 T A 15: 28,272,306 (GRCm39) C1037S probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Ei24 A T 9: 36,694,137 (GRCm39) I244N possibly damaging Het
Epb41l4a C A 18: 33,943,271 (GRCm39) probably null Het
Fam83b A G 9: 76,398,703 (GRCm39) M800T possibly damaging Het
Fcf1 T G 12: 85,021,013 (GRCm39) C98G probably benign Het
H2bc3 T C 13: 23,931,141 (GRCm39) Y122H probably benign Het
Hltf G T 3: 20,137,094 (GRCm39) Q417H possibly damaging Het
Hmg20b T C 10: 81,185,258 (GRCm39) S35G probably benign Het
Igkv4-57-1 T G 6: 69,521,525 (GRCm39) Y59S probably damaging Het
Irs2 C T 8: 11,055,061 (GRCm39) V1124I possibly damaging Het
Kprp A G 3: 92,731,560 (GRCm39) C497R unknown Het
Krt15 A T 11: 100,022,961 (GRCm39) V418E probably benign Het
Lce1e G A 3: 92,615,312 (GRCm39) P12S unknown Het
Lsmem1 T C 12: 40,227,113 (GRCm39) D124G probably damaging Het
Morc3 T C 16: 93,642,036 (GRCm39) F85S probably damaging Het
Mtnr1b A T 9: 15,774,447 (GRCm39) V204E possibly damaging Het
Myo7b C T 18: 32,109,356 (GRCm39) A1172T probably benign Het
Nbeal1 T A 1: 60,349,424 (GRCm39) I2362N probably damaging Het
Nde1 T G 16: 14,006,255 (GRCm39) L261R probably damaging Het
Neurl1b A G 17: 26,658,265 (GRCm39) D401G probably benign Het
Nfkb2 T C 19: 46,296,839 (GRCm39) V303A probably damaging Het
Nlrc5 C T 8: 95,199,652 (GRCm39) P88S probably damaging Het
Or10ad1b T A 15: 98,124,912 (GRCm39) I207F possibly damaging Het
Or4k36 T A 2: 111,146,460 (GRCm39) I212K possibly damaging Het
Or6c203 T A 10: 129,010,165 (GRCm39) M242L probably benign Het
Pde1c T A 6: 56,049,199 (GRCm39) K705* probably null Het
Pear1 A T 3: 87,659,890 (GRCm39) F699I probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Prickle1 A T 15: 93,400,861 (GRCm39) L541* probably null Het
Prss39 G A 1: 34,538,344 (GRCm39) G70S probably damaging Het
Prune2 T G 19: 17,193,708 (GRCm39) N3065K probably damaging Het
Qrfprl T A 6: 65,433,078 (GRCm39) N299K probably benign Het
Rdh5 A C 10: 128,753,937 (GRCm39) D127E probably benign Het
Ryr3 G A 2: 112,664,612 (GRCm39) H1580Y probably damaging Het
Sash1 G A 10: 8,637,994 (GRCm39) probably benign Het
Scgb3a2 T A 18: 43,900,129 (GRCm39) L139Q possibly damaging Het
Six1 A G 12: 73,093,095 (GRCm39) S36P probably damaging Het
Slc30a5 T C 13: 100,950,416 (GRCm39) I281V probably benign Het
Snai2 T A 16: 14,524,589 (GRCm39) Y32N probably benign Het
Stat2 T C 10: 128,114,634 (GRCm39) S244P probably damaging Het
Syne1 A G 10: 5,152,030 (GRCm39) I5759T probably damaging Het
Tbc1d23 T C 16: 57,012,985 (GRCm39) N329S possibly damaging Het
Tex2 A T 11: 106,435,214 (GRCm39) S737R unknown Het
Trav13d-3 G A 14: 53,270,715 (GRCm39) R59H probably benign Het
Tspan9 C T 6: 127,944,124 (GRCm39) A59T probably benign Het
Usp53 G A 3: 122,746,918 (GRCm39) A349V probably damaging Het
Vmn1r188 T C 13: 22,272,898 (GRCm39) L284P probably damaging Het
Vmn2r85 T C 10: 130,261,215 (GRCm39) N374S probably damaging Het
Zfp622 A T 15: 25,985,035 (GRCm39) I134F 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
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
Predicted Primers PCR Primer
(F):5'- ACATGGAAGTGATGAACCCC -3'
(R):5'- GACACTTTCACATTCCTTGGTG -3'

Sequencing Primer
(F):5'- TGGAAGTGATGAACCCCAAGCC -3'
(R):5'- ACACTTTCACATTCCTTGGTGGTTTG -3'
Posted On 2022-05-16