Incidental Mutation 'R8280:Naaa'
ID 638144
Institutional Source Beutler Lab
Gene Symbol Naaa
Ensembl Gene ENSMUSG00000029413
Gene Name N-acylethanolamine acid amidase
Synonyms Asahl, 3830414F09Rik, 2210023K21Rik
MMRRC Submission 067703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8280 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 92405518-92426029 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92411308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 293 (Y293C)
Ref Sequence ENSEMBL: ENSMUSP00000108726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113102] [ENSMUST00000159345] [ENSMUST00000175656]
AlphaFold Q9D7V9
Predicted Effect probably damaging
Transcript: ENSMUST00000113102
AA Change: Y293C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413
AA Change: Y293C

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 damaging
Transcript: ENSMUST00000159345
AA Change: Y291C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124582
Gene: ENSMUSG00000029413
AA Change: Y291C

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 possibly damaging
Transcript: ENSMUST00000175656
AA Change: Y157C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (47/47)
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
4933427D14Rik A G 11: 72,086,667 (GRCm39) V248A possibly damaging Het
Alpk2 A G 18: 65,440,274 (GRCm39) I373T probably benign Het
Anxa1 A T 19: 20,352,650 (GRCm39) M308K possibly damaging Het
Apob T C 12: 8,060,851 (GRCm39) M3111T possibly damaging Het
Cacna1e T C 1: 154,344,839 (GRCm39) D1095G probably damaging Het
Cacna2d3 C T 14: 28,704,328 (GRCm39) V818I probably benign Het
Ces1c T A 8: 93,825,809 (GRCm39) H550L possibly damaging Het
Cluap1 A G 16: 3,729,017 (GRCm39) probably benign Het
Cped1 G T 6: 21,986,820 (GRCm39) R4L unknown Het
Cyb561d1 A G 3: 108,106,532 (GRCm39) I229T probably benign Het
Cyb561d1 A G 3: 108,106,713 (GRCm39) C169R probably damaging Het
Dip2a C T 10: 76,100,610 (GRCm39) V1522M possibly damaging Het
Diras2 A G 13: 52,661,863 (GRCm39) M148T probably benign Het
Dnah5 G T 15: 28,408,538 (GRCm39) A3508S probably benign Het
Fam43b T C 4: 138,123,281 (GRCm39) E13G probably damaging Het
Farsa T G 8: 85,587,808 (GRCm39) I113S probably damaging Het
Fcrl2 G T 3: 87,166,364 (GRCm39) S137* probably null Het
Fer1l4 T C 2: 155,891,620 (GRCm39) D114G probably damaging Het
Gm4181 A T 14: 51,868,015 (GRCm39) *185R probably null Het
Gm5901 G A 7: 105,027,105 (GRCm39) probably null Het
Heatr4 C A 12: 84,016,670 (GRCm39) E532D probably benign Het
Il10 C T 1: 130,947,749 (GRCm39) P34L possibly damaging Het
Irag1 T C 7: 110,522,828 (GRCm39) E205G possibly damaging Het
Lilra6 A G 7: 3,916,046 (GRCm39) L271P probably benign Het
Mlh1 A T 9: 111,078,286 (GRCm39) probably null Het
Ndufaf7 G A 17: 79,251,275 (GRCm39) G227R possibly damaging Het
Nmral1 A G 16: 4,531,659 (GRCm39) S199P probably damaging Het
Or1o11 T C 17: 37,756,744 (GRCm39) F100L probably benign Het
Or4c122 A T 2: 89,079,234 (GRCm39) I268K probably damaging Het
Or4k2 A C 14: 50,423,723 (GRCm39) L318* probably null Het
Or4x6 C A 2: 89,949,742 (GRCm39) V67L probably benign Het
Or6b2 T C 1: 92,407,729 (GRCm39) I205V noncoding transcript Het
Or8b52 T A 9: 38,576,783 (GRCm39) Y119F probably damaging Het
Or8g21 C T 9: 38,906,075 (GRCm39) V219I probably benign Het
Paxbp1 G T 16: 90,831,123 (GRCm39) H418N probably benign Het
Prtg A G 9: 72,813,433 (GRCm39) Y931C probably damaging Het
Robo4 T C 9: 37,315,372 (GRCm39) S239P probably benign Het
Rragd A G 4: 32,995,112 (GRCm39) R76G probably benign Het
Samd8 G A 14: 21,830,219 (GRCm39) W278* probably null Het
Slc22a8 T A 19: 8,586,627 (GRCm39) Y379* probably null Het
Taar8c T A 10: 23,976,835 (GRCm39) I326F probably benign Het
Tmem245 A T 4: 56,890,884 (GRCm39) S715T possibly damaging Het
Tnnt3 A G 7: 142,055,359 (GRCm39) I1M unknown Het
Trio A G 15: 27,902,996 (GRCm39) I214T unknown Het
Uqcrfs1 A T 13: 30,729,071 (GRCm39) S54T probably benign Het
Usf3 A G 16: 44,038,864 (GRCm39) T1115A probably benign Het
Zscan4f A T 7: 11,251,599 (GRCm39) I212F probably damaging 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
R4547:Naaa UTSW 5 92,411,445 (GRCm39) splice site probably null
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
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'- CTGACCATGAGAAACATTGGAAGTC -3'
(R):5'- AGACATTTGGCCTCTTGACCC -3'

Sequencing Primer
(F):5'- ATCATGCCTCTGATCCTTGGAGG -3'
(R):5'- CTCTTGACCCTCTGAATGGAGAG -3'
Posted On 2020-07-28