Incidental Mutation 'IGL03010:Nat2'
ID 407723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat2
Ensembl Gene ENSMUSG00000051147
Gene Name N-acetyltransferase 2 (arylamine N-acetyltransferase)
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.706) question?
Stock # IGL03010
Quality Score
Status
Chromosome 8
Chromosomal Location 67947510-67955236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67954664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 258 (L258Q)
Ref Sequence ENSEMBL: ENSMUSP00000130065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093470] [ENSMUST00000163856]
AlphaFold P50295
Predicted Effect probably damaging
Transcript: ENSMUST00000093470
AA Change: L258Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147
AA Change: L258Q

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.6e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163856
AA Change: L258Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147
AA Change: L258Q

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.3e-98 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Inactivation of this gene does not result in an overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Adamts4 T C 1: 171,078,985 (GRCm39) C202R probably damaging Het
Afap1l1 T C 18: 61,876,390 (GRCm39) D409G probably benign Het
Atp6v1b2 T C 8: 69,558,534 (GRCm39) I334T probably damaging Het
Btn2a2 A T 13: 23,670,375 (GRCm39) Y119* probably null Het
Cct2 T C 10: 116,894,019 (GRCm39) D245G probably damaging Het
Ercc2 A G 7: 19,125,491 (GRCm39) K486E possibly damaging Het
Fam186b T C 15: 99,178,508 (GRCm39) S273G possibly damaging Het
Fbxw24 T A 9: 109,452,678 (GRCm39) I106L probably benign Het
Ghrhr T C 6: 55,361,742 (GRCm39) I303T probably damaging Het
Habp2 T C 19: 56,299,655 (GRCm39) probably null Het
Haus3 T A 5: 34,323,631 (GRCm39) E326D probably benign Het
Hdac7 C T 15: 97,691,810 (GRCm39) probably null Het
Hectd2 T A 19: 36,593,002 (GRCm39) D722E probably benign Het
Il20ra G T 10: 19,624,960 (GRCm39) G80W probably damaging Het
Jag1 T C 2: 136,935,118 (GRCm39) probably benign Het
Lrp1b A G 2: 42,213,618 (GRCm39) S65P possibly damaging Het
Lypd2 A G 15: 74,606,102 (GRCm39) I12T probably benign Het
Nwd1 T C 8: 73,414,688 (GRCm39) probably benign Het
Or2y1b T A 11: 49,208,973 (GRCm39) V200E probably damaging Het
Or5ac24 A G 16: 59,165,135 (GRCm39) probably benign Het
Or6c3 G T 10: 129,308,843 (GRCm39) C94F probably damaging Het
Pcdh15 T A 10: 74,221,777 (GRCm39) D692E probably damaging Het
Prkcz G T 4: 155,371,262 (GRCm39) H134N probably damaging Het
Prmt8 T C 6: 127,706,498 (GRCm39) T98A probably benign Het
Rps6kc1 C A 1: 190,643,803 (GRCm39) E19* probably null Het
Rrp8 A G 7: 105,383,598 (GRCm39) S223P probably benign Het
Septin10 G A 10: 59,006,777 (GRCm39) probably benign Het
Serpinb7 T C 1: 107,379,741 (GRCm39) probably benign Het
Spaca6 C A 17: 18,058,667 (GRCm39) Q72K probably benign Het
Spag1 A G 15: 36,233,419 (GRCm39) H712R probably benign Het
Spg11 C A 2: 121,918,801 (GRCm39) A943S probably damaging Het
Tmem104 T C 11: 115,134,360 (GRCm39) S298P probably benign Het
Ttn A G 2: 76,565,432 (GRCm39) I28265T probably damaging Het
Usp33 G T 3: 152,074,233 (GRCm39) V360F probably benign Het
Vmn2r113 A G 17: 23,175,038 (GRCm39) T550A possibly damaging Het
Zscan4d A T 7: 10,897,070 (GRCm39) V128D probably damaging Het
Other mutations in Nat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Nat2 APN 8 67,954,193 (GRCm39) missense probably damaging 1.00
IGL02341:Nat2 APN 8 67,954,370 (GRCm39) missense possibly damaging 0.46
R0112:Nat2 UTSW 8 67,954,378 (GRCm39) nonsense probably null
R0511:Nat2 UTSW 8 67,953,982 (GRCm39) nonsense probably null
R0600:Nat2 UTSW 8 67,953,919 (GRCm39) missense probably damaging 1.00
R0690:Nat2 UTSW 8 67,954,456 (GRCm39) missense probably damaging 1.00
R1865:Nat2 UTSW 8 67,954,204 (GRCm39) missense possibly damaging 0.61
R4118:Nat2 UTSW 8 67,954,271 (GRCm39) missense possibly damaging 0.94
R5456:Nat2 UTSW 8 67,954,225 (GRCm39) missense probably damaging 1.00
R7859:Nat2 UTSW 8 67,954,002 (GRCm39) missense probably damaging 1.00
R9641:Nat2 UTSW 8 67,954,522 (GRCm39) missense probably benign 0.05
Z1176:Nat2 UTSW 8 67,953,916 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02