Incidental Mutation 'IGL02341:Nat2'
ID 289079
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: 0.743) question?
Stock # IGL02341
Quality Score
Status
Chromosome 8
Chromosomal Location 67947510-67955236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67954370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 160 (Y160C)
Ref Sequence ENSEMBL: ENSMUSP00000130065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093470] [ENSMUST00000163856]
AlphaFold P50295
Predicted Effect possibly damaging
Transcript: ENSMUST00000093470
AA Change: Y160C

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147
AA Change: Y160C

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.6e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163856
AA Change: Y160C

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147
AA Change: Y160C

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,066 (GRCm39) S1393L probably benign Het
Bahcc1 T A 11: 120,163,346 (GRCm39) I548N probably damaging Het
Baiap3 A T 17: 25,467,290 (GRCm39) L405Q possibly damaging Het
Cacna1g T G 11: 94,352,978 (GRCm39) Q349P probably damaging Het
Ccdc30 T C 4: 119,213,978 (GRCm39) T184A possibly damaging Het
Ccdc63 A G 5: 122,251,261 (GRCm39) I383T probably benign Het
Ccnk A G 12: 108,161,989 (GRCm39) E298G unknown Het
Ccnt1 T C 15: 98,444,664 (GRCm39) E223G possibly damaging Het
Clcc1 T A 3: 108,580,699 (GRCm39) L333I possibly damaging Het
Cyp2b10 G A 7: 25,610,667 (GRCm39) R59Q probably benign Het
Cyp3a41b T A 5: 145,510,461 (GRCm39) T138S probably benign Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah8 A T 17: 30,966,231 (GRCm39) I2474F probably damaging Het
Dok1 T C 6: 83,010,035 (GRCm39) T25A probably damaging Het
Ears2 G A 7: 121,638,987 (GRCm39) A479V probably benign Het
Erc1 T A 6: 119,571,934 (GRCm39) I981F possibly damaging Het
Gm8730 A G 8: 103,591,775 (GRCm39) noncoding transcript Het
Gm9962 C T 7: 57,037,042 (GRCm39) probably benign Het
Has3 A T 8: 107,600,637 (GRCm39) Y33F probably damaging Het
Hk1 A G 10: 62,120,159 (GRCm39) S607P possibly damaging Het
Hlcs T A 16: 94,031,969 (GRCm39) I612F probably damaging Het
Llgl2 T A 11: 115,741,946 (GRCm39) S663T possibly damaging Het
Lrriq1 T C 10: 103,060,802 (GRCm39) H100R probably benign Het
Lypd8l T C 11: 58,503,656 (GRCm39) S17G possibly damaging Het
Magi2 T A 5: 20,671,201 (GRCm39) I678N probably damaging Het
Megf11 G A 9: 64,451,902 (GRCm39) G109S probably damaging Het
Morc2b A T 17: 33,356,281 (GRCm39) I497K probably damaging Het
Mybpc2 A C 7: 44,164,354 (GRCm39) S404A probably benign Het
Mylip A G 13: 45,544,752 (GRCm39) R59G probably damaging Het
Mylk3 A T 8: 86,078,601 (GRCm39) I501N probably damaging Het
Myo19 A G 11: 84,778,871 (GRCm39) probably benign Het
Nf1 C T 11: 79,455,752 (GRCm39) A2554V probably benign Het
Niban3 A T 8: 72,056,443 (GRCm39) N381I possibly damaging Het
Ninl A T 2: 150,786,525 (GRCm39) C153* probably null Het
Nlrp5 C T 7: 23,103,577 (GRCm39) R15C probably benign Het
Nphp4 A T 4: 152,639,926 (GRCm39) probably benign Het
Obscn C A 11: 59,026,651 (GRCm39) R184L probably benign Het
Or6c202 T A 10: 128,996,302 (GRCm39) I184F probably benign Het
Or6c6c A T 10: 129,541,358 (GRCm39) T204S probably damaging Het
Or6c8 A T 10: 128,915,330 (GRCm39) C167* probably null Het
Phip A T 9: 82,814,936 (GRCm39) V262D probably damaging Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Reck T A 4: 43,925,160 (GRCm39) D466E probably damaging Het
Rimbp2 G T 5: 128,878,025 (GRCm39) Y213* probably null Het
Scn2a C T 2: 65,518,721 (GRCm39) T365M probably damaging Het
Scpep1 T A 11: 88,835,314 (GRCm39) T120S probably benign Het
Sp7 T A 15: 102,267,657 (GRCm39) T50S possibly damaging Het
Tbc1d1 A G 5: 64,432,750 (GRCm39) R304G probably damaging Het
Tiam1 A G 16: 89,695,257 (GRCm39) S67P probably damaging Het
Tjp1 G A 7: 64,962,382 (GRCm39) T1185I probably damaging Het
Tspan2 T A 3: 102,672,529 (GRCm39) I178N probably damaging Het
Tusc2 T A 9: 107,442,109 (GRCm39) *103R probably null Het
Uggt1 A T 1: 36,203,600 (GRCm39) *47R probably null Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vcpip1 T A 1: 9,795,175 (GRCm39) K1065N possibly damaging Het
Zfp532 C A 18: 65,757,849 (GRCm39) P594Q probably damaging Het
Other mutations in Nat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Nat2 APN 8 67,954,193 (GRCm39) missense probably damaging 1.00
IGL03010:Nat2 APN 8 67,954,664 (GRCm39) missense probably damaging 1.00
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 2015-04-16