Incidental Mutation 'R4547:Naaa'
ID 333816
Institutional Source Beutler Lab
Gene Symbol Naaa
Ensembl Gene ENSMUSG00000029413
Gene Name N-acylethanolamine acid amidase
Synonyms Asahl, 3830414F09Rik, 2210023K21Rik
MMRRC Submission 041781-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4547 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92405518-92426029 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 92411445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113102] [ENSMUST00000113102] [ENSMUST00000159345] [ENSMUST00000159345] [ENSMUST00000175656] [ENSMUST00000175656]
AlphaFold Q9D7V9
Predicted Effect probably null
Transcript: ENSMUST00000113102
SMART Domains Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NAAA-beta 36 127 7.3e-26 PFAM
Pfam:CBAH 131 362 9e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113102
SMART Domains Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NAAA-beta 36 127 7.3e-26 PFAM
Pfam:CBAH 131 362 9e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159345
SMART Domains Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NAAA-beta 36 125 1.3e-23 PFAM
Pfam:CBAH 129 360 1.6e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159345
SMART Domains Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NAAA-beta 36 125 1.3e-23 PFAM
Pfam:CBAH 129 360 1.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159732
Predicted Effect probably null
Transcript: ENSMUST00000175656
Predicted Effect probably null
Transcript: ENSMUST00000175656
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G T 14: 54,883,124 (GRCm39) A909E probably benign Het
Ankrd13a A G 5: 114,913,357 (GRCm39) E23G probably benign Het
Ano4 T C 10: 88,817,032 (GRCm39) R148G probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Aspm T C 1: 139,405,925 (GRCm39) V1604A possibly damaging Het
Cdh1 C A 8: 107,390,535 (GRCm39) T625K probably damaging Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cfhr3 T G 1: 139,512,651 (GRCm39) noncoding transcript Het
Csmd1 T C 8: 16,441,811 (GRCm39) D351G possibly damaging Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnah6 A T 6: 73,169,388 (GRCm39) D404E probably benign Het
Dpm1 A G 2: 168,065,073 (GRCm39) L88P probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fat4 T C 3: 39,005,432 (GRCm39) F1944L probably damaging Het
Frmd4a C A 2: 4,477,956 (GRCm39) L46I probably damaging Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Hace1 T A 10: 45,548,651 (GRCm39) probably null Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klb T A 5: 65,537,271 (GRCm39) V867E probably benign Het
Lnpk C G 2: 74,352,630 (GRCm39) E351Q probably benign Het
Mettl25 T C 10: 105,661,878 (GRCm39) D364G probably damaging Het
Mrc2 G A 11: 105,227,467 (GRCm39) V567I probably benign Het
Mrm2 T C 5: 140,314,251 (GRCm39) T195A probably benign Het
Ncdn A G 4: 126,640,467 (GRCm39) F542S probably damaging Het
Nlrp4e A G 7: 23,036,291 (GRCm39) N715D probably benign Het
Nup42 T C 5: 24,382,968 (GRCm39) probably benign Het
Or10ag57 G A 2: 87,218,504 (GRCm39) V152I probably benign Het
Or2t6 A T 14: 14,175,854 (GRCm38) I76N probably damaging Het
Psg25 A G 7: 18,258,629 (GRCm39) L349P probably damaging Het
Rnf213 G T 11: 119,370,496 (GRCm39) probably null Het
Scara5 A C 14: 65,908,023 (GRCm39) K4N possibly damaging Het
Slc35f5 T C 1: 125,500,119 (GRCm39) L211S probably benign Het
Slc44a4 T A 17: 35,146,731 (GRCm39) F285I probably damaging Het
Slc8a3 A G 12: 81,361,625 (GRCm39) V398A possibly damaging Het
Smc2 T C 4: 52,467,866 (GRCm39) S737P probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Synj1 T C 16: 90,785,170 (GRCm39) I229V possibly damaging Het
Tac1 A G 6: 7,557,216 (GRCm39) D74G probably damaging Het
Tbc1d17 A G 7: 44,490,771 (GRCm39) V607A probably benign Het
Tmem132a A G 19: 10,837,564 (GRCm39) V582A possibly damaging Het
Traf4 A G 11: 78,051,863 (GRCm39) I207T possibly damaging Het
Trio T C 15: 27,819,068 (GRCm39) R449G possibly damaging Het
Ubn1 G A 16: 4,889,956 (GRCm39) R407H probably damaging Het
Vmn1r19 C T 6: 57,381,774 (GRCm39) T109I possibly damaging Het
Vmn2r60 A G 7: 41,785,087 (GRCm39) T100A probably null Het
Vsig8 A T 1: 172,388,163 (GRCm39) M44L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* probably null Het
Other mutations in Naaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Naaa APN 5 92,412,992 (GRCm39) missense probably benign 0.32
IGL01470:Naaa APN 5 92,411,507 (GRCm39) missense probably damaging 1.00
IGL01990:Naaa APN 5 92,415,922 (GRCm39) missense possibly damaging 0.75
IGL02222:Naaa APN 5 92,407,409 (GRCm39) unclassified probably benign
R0254:Naaa UTSW 5 92,412,994 (GRCm39) missense probably damaging 1.00
R1658:Naaa UTSW 5 92,420,300 (GRCm39) splice site probably null
R1930:Naaa UTSW 5 92,425,894 (GRCm39) missense probably benign
R1931:Naaa UTSW 5 92,425,894 (GRCm39) missense probably benign
R3788:Naaa UTSW 5 92,420,413 (GRCm39) splice site probably null
R4182:Naaa UTSW 5 92,420,413 (GRCm39) splice site probably null
R4373:Naaa UTSW 5 92,426,002 (GRCm39) utr 5 prime probably benign
R5198:Naaa UTSW 5 92,415,904 (GRCm39) nonsense probably null
R5732:Naaa UTSW 5 92,411,314 (GRCm39) missense probably damaging 1.00
R6009:Naaa UTSW 5 92,407,440 (GRCm39) missense probably benign
R7037:Naaa UTSW 5 92,424,934 (GRCm39) missense possibly damaging 0.46
R7540:Naaa UTSW 5 92,411,583 (GRCm39) missense probably benign 0.15
R8280:Naaa UTSW 5 92,411,308 (GRCm39) missense probably damaging 0.99
R9039:Naaa UTSW 5 92,420,300 (GRCm39) splice site probably benign
R9219:Naaa UTSW 5 92,425,864 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGAATCTACCTTCGGTCATCCAC -3'
(R):5'- GTGTCCAGCAATATGGGATGAG -3'

Sequencing Primer
(F):5'- ACCTTGGGTGCAGGCTTC -3'
(R):5'- CCAGCAATATGGGATGAGGTTGTC -3'
Posted On 2015-08-18