Incidental Mutation 'R4118:Nat2'
ID 315170
Institutional Source Beutler Lab
Gene Symbol Nat2
Ensembl Gene ENSMUSG00000051147
Gene Name N-acetyltransferase 2 (arylamine N-acetyltransferase)
Synonyms
MMRRC Submission 041631-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.706) question?
Stock # R4118 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 67947510-67955236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67954271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 127 (R127H)
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: R127H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147
AA Change: R127H

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.6e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163856
AA Change: R127H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147
AA Change: R127H

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.3e-98 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 92% (55/60)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,503 (GRCm39) R31G possibly damaging Het
4932414N04Rik C T 2: 68,566,857 (GRCm39) R419C probably benign Het
Ankmy1 T C 1: 92,816,418 (GRCm39) E232G possibly damaging Het
Arhgef4 A T 1: 34,771,428 (GRCm39) K1245M probably damaging Het
Atp2c1 A G 9: 105,343,858 (GRCm39) L83P probably damaging Het
Atp9b T C 18: 80,793,044 (GRCm39) D1000G possibly damaging Het
Atxn7 T C 14: 14,100,308 (GRCm38) S665P probably benign Het
Bbs4 T C 9: 59,237,708 (GRCm39) Y212C possibly damaging Het
Cars1 A G 7: 143,113,384 (GRCm39) probably null Het
Cep162 T C 9: 87,086,229 (GRCm39) T1032A probably benign Het
Chd7 G A 4: 8,865,831 (GRCm39) E668K probably damaging Het
Dek T C 13: 47,242,076 (GRCm39) T201A probably benign Het
Depdc5 T A 5: 33,121,979 (GRCm39) S1079T probably damaging Het
Etaa1 A T 11: 17,896,180 (GRCm39) S646T probably benign Het
Fat1 T C 8: 45,463,474 (GRCm39) S1339P probably damaging Het
Fat1 C A 8: 45,503,981 (GRCm39) D4491E probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gpr18 T C 14: 122,149,968 (GRCm39) E19G probably benign Het
Ipo5 A G 14: 121,176,073 (GRCm39) T633A probably benign Het
Jmjd1c T A 10: 67,055,532 (GRCm39) S317R probably damaging Het
Lama3 T A 18: 12,583,488 (GRCm39) M692K probably benign Het
Lrp12 A T 15: 39,741,361 (GRCm39) C451* probably null Het
Lrp2 C T 2: 69,260,606 (GRCm39) probably null Het
Myrfl T A 10: 116,664,870 (GRCm39) I387F probably damaging Het
Naglu G A 11: 100,964,908 (GRCm39) V332I probably benign Het
Otx2 G A 14: 48,896,611 (GRCm39) T141I probably benign Het
Paqr9 T A 9: 95,442,952 (GRCm39) I314N probably damaging Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Ppm1d A G 11: 85,202,408 (GRCm39) D37G probably benign Het
Prdm9 T G 17: 15,764,275 (GRCm39) D835A probably benign Het
Ptprq A G 10: 107,547,781 (GRCm39) S206P probably benign Het
Rapgef2 A G 3: 78,976,194 (GRCm39) probably null Het
Rpgrip1l G A 8: 91,979,535 (GRCm39) T969I probably benign Het
Rpp40 A G 13: 36,080,787 (GRCm39) Y316H probably damaging Het
Serpinb3d A T 1: 107,006,960 (GRCm39) D249E possibly damaging Het
Slc22a29 A C 19: 8,137,893 (GRCm39) probably benign Het
Slc35f1 T C 10: 52,965,464 (GRCm39) M293T probably damaging Het
Slmap A T 14: 26,204,027 (GRCm39) L98H probably damaging Het
Tiam1 C T 16: 89,673,921 (GRCm39) probably null Het
Tlr11 A G 14: 50,600,684 (GRCm39) Y890C probably damaging Het
Tmem131l T C 3: 83,868,074 (GRCm39) T194A probably benign Het
Ubap1 A T 4: 41,371,767 (GRCm39) D26V probably damaging Het
Vmn2r91 T A 17: 18,330,358 (GRCm39) N547K probably damaging Het
Wiz C T 17: 32,588,331 (GRCm39) probably benign Het
Wwp2 A G 8: 108,272,091 (GRCm39) T399A probably benign Het
Zfp729b A T 13: 67,740,829 (GRCm39) F479I possibly damaging Het
Zswim5 G A 4: 116,844,016 (GRCm39) R1018H possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGTCTCCAGGTTAATCATCTGC -3'
(R):5'- TTCAATAGTTCGGGGCTCAAGAG -3'

Sequencing Primer
(F):5'- CTGTACTGGGCTCTGACCAAAC -3'
(R):5'- TTCGGGGCTCAAGAGTAAAG -3'
Posted On 2015-05-14