Incidental Mutation 'R8286:Neil2'
ID 638479
Institutional Source Beutler Lab
Gene Symbol Neil2
Ensembl Gene ENSMUSG00000035121
Gene Name nei like 2 (E. coli)
Synonyms LOC382913, NEH2
MMRRC Submission 067708-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8286 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 63419892-63431305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63426154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 72 (I72K)
Ref Sequence ENSEMBL: ENSMUSP00000045200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038229]
AlphaFold Q6R2P8
Predicted Effect probably benign
Transcript: ENSMUST00000038229
AA Change: I72K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121
AA Change: I72K

DomainStartEndE-ValueType
Blast:Fapy_DNA_glyco 2 177 7e-94 BLAST
H2TH 188 272 1.47e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased age-related DNA damage, loss of telomeres and increased induced lung inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A T 5: 8,914,119 (GRCm39) Y1163F probably damaging Het
Abcd4 A G 12: 84,649,920 (GRCm39) V589A probably benign Het
Adam26b T A 8: 43,972,998 (GRCm39) N668I probably benign Het
Atp2b2 T C 6: 113,819,275 (GRCm39) N6S possibly damaging Het
Cacna2d2 A G 9: 107,392,063 (GRCm39) Y468C probably damaging Het
Cngb1 A T 8: 96,002,252 (GRCm39) V52D Het
Cped1 A T 6: 22,254,601 (GRCm39) Y998F probably benign Het
Csmd1 A G 8: 16,039,188 (GRCm39) V2390A probably benign Het
Ctsj A T 13: 61,148,330 (GRCm39) C321* probably null Het
Dip2a A C 10: 76,122,297 (GRCm39) I139S probably benign Het
Dnaaf9 T C 2: 130,559,248 (GRCm39) I937V probably damaging Het
Eif1 A G 11: 100,210,795 (GRCm39) probably benign Het
Exoc1 T C 5: 76,711,087 (GRCm39) I662T probably benign Het
Flt4 A G 11: 49,528,089 (GRCm39) R971G probably benign Het
Hecw2 T C 1: 53,879,928 (GRCm39) T1294A probably damaging Het
Herc2 T G 7: 55,879,410 (GRCm39) V4676G possibly damaging Het
Hif1a A G 12: 73,992,022 (GRCm39) probably benign Het
Icam5 C A 9: 20,946,822 (GRCm39) A450E possibly damaging Het
Map3k21 T A 8: 126,637,498 (GRCm39) M28K probably benign Het
Mars1 C A 10: 127,141,348 (GRCm39) R347L probably benign Het
Mctp1 A T 13: 76,905,174 (GRCm39) I426F probably benign Het
Mdn1 T C 4: 32,731,960 (GRCm39) S3007P possibly damaging Het
Mical3 T C 6: 120,998,149 (GRCm39) R65G possibly damaging Het
Ncald G T 15: 37,397,505 (GRCm39) Y58* probably null Het
Or8b35 C A 9: 37,904,401 (GRCm39) Y204* probably null Het
Or8k23 A G 2: 86,186,691 (GRCm39) F12L probably damaging Het
Pan2 A G 10: 128,154,189 (GRCm39) D1086G probably damaging Het
Plxnb1 A G 9: 108,935,870 (GRCm39) T1087A probably damaging Het
Prpf39 A G 12: 65,103,132 (GRCm39) M469V probably benign Het
Ptprk A T 10: 28,444,323 (GRCm39) S905C probably damaging Het
Rassf5 T C 1: 131,140,067 (GRCm39) D164G possibly damaging Het
Setd1a T C 7: 127,385,356 (GRCm39) W688R possibly damaging Het
Sfswap C T 5: 129,616,783 (GRCm39) T409I probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Slfn9 G C 11: 82,872,095 (GRCm39) N880K probably damaging Het
Sprr1b T C 3: 92,344,720 (GRCm39) K52R probably benign Het
Tfb2m T C 1: 179,356,770 (GRCm39) D388G probably damaging Het
Tmem234 T C 4: 129,500,881 (GRCm39) probably benign Het
Traj43 A G 14: 54,412,201 (GRCm39) N1D Het
Trmt1l T A 1: 151,333,543 (GRCm39) I682N probably damaging Het
Trp53rka T C 2: 165,333,445 (GRCm39) D148G probably damaging Het
Vmn2r86 A G 10: 130,285,855 (GRCm39) V440A probably benign Het
Vxn C T 1: 9,683,613 (GRCm39) T67I probably benign Het
Wdfy3 C T 5: 102,085,287 (GRCm39) V736I probably benign Het
Other mutations in Neil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Neil2 APN 14 63,429,177 (GRCm39) missense probably damaging 0.98
IGL01795:Neil2 APN 14 63,426,199 (GRCm39) missense probably benign 0.03
IGL02990:Neil2 APN 14 63,429,258 (GRCm39) missense possibly damaging 0.71
IGL03127:Neil2 APN 14 63,429,257 (GRCm39) missense probably benign 0.01
R0234:Neil2 UTSW 14 63,420,975 (GRCm39) missense probably damaging 1.00
R0234:Neil2 UTSW 14 63,420,975 (GRCm39) missense probably damaging 1.00
R0631:Neil2 UTSW 14 63,420,849 (GRCm39) missense possibly damaging 0.89
R1972:Neil2 UTSW 14 63,423,526 (GRCm39) missense possibly damaging 0.85
R4235:Neil2 UTSW 14 63,429,290 (GRCm39) start codon destroyed probably null 1.00
R5112:Neil2 UTSW 14 63,425,909 (GRCm39) missense probably damaging 1.00
R6315:Neil2 UTSW 14 63,420,920 (GRCm39) missense possibly damaging 0.61
R6802:Neil2 UTSW 14 63,429,263 (GRCm39) missense probably damaging 1.00
R8956:Neil2 UTSW 14 63,429,227 (GRCm39) missense probably damaging 1.00
Z1176:Neil2 UTSW 14 63,425,945 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGCTCTGGAGAAGTCATTC -3'
(R):5'- AACAGACTGTTGGCAGCTAGC -3'

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