Incidental Mutation 'R0831:Dna2'
ID 77558
Institutional Source Beutler Lab
Gene Symbol Dna2
Ensembl Gene ENSMUSG00000036875
Gene Name DNA replication helicase/nuclease 2
Synonyms Dna2l, E130315B21Rik
MMRRC Submission 039010-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0831 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62782805-62809964 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 62795108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 460 (K460*)
Ref Sequence ENSEMBL: ENSMUSP00000115750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]
AlphaFold Q6ZQJ5
Predicted Effect probably null
Transcript: ENSMUST00000092462
AA Change: K460*
SMART Domains Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: K460*

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Dna2 68 284 4.7e-75 PFAM
Pfam:PDDEXK_1 125 404 4.3e-13 PFAM
Pfam:AAA_11 626 799 6.7e-42 PFAM
Pfam:AAA_30 626 848 1.1e-15 PFAM
Pfam:AAA_19 633 709 5.7e-9 PFAM
Pfam:AAA_12 806 944 4.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129785
Predicted Effect probably null
Transcript: ENSMUST00000131422
AA Change: K460*
SMART Domains Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: K460*

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Dna2 72 283 8.2e-65 PFAM
Pfam:PDDEXK_1 125 404 3e-11 PFAM
Pfam:AAA_11 626 732 7.8e-17 PFAM
Pfam:AAA_30 626 848 1.3e-15 PFAM
Pfam:AAA_19 633 709 6.2e-9 PFAM
Pfam:AAA_11 722 799 1.2e-21 PFAM
Pfam:AAA_12 806 1020 5.3e-57 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.0%
Validation Efficiency 95% (82/86)
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 DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E7.5. Mice heterozygous for the allele exhibit shortened telomeres, chromosome segregation errors and increased tumor incidence associated with aneuploidy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik C T 7: 12,284,523 (GRCm39) probably benign Het
3425401B19Rik T C 14: 32,384,228 (GRCm39) N579S probably benign Het
Adck1 G T 12: 88,335,118 (GRCm39) M1I probably null Het
Adgra3 A T 5: 50,128,144 (GRCm39) I779N probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Afg3l2 A C 18: 67,554,297 (GRCm39) F468L probably damaging Het
Alms1 T A 6: 85,605,502 (GRCm39) I2384N probably benign Het
Ankrd13b A T 11: 77,363,585 (GRCm39) S244R probably damaging Het
Aox1 T A 1: 58,378,842 (GRCm39) H1030Q probably benign Het
Ap1b1 A G 11: 4,973,092 (GRCm39) probably benign Het
Atxn2l A G 7: 126,098,332 (GRCm39) S187P probably damaging Het
B4galt4 G T 16: 38,588,341 (GRCm39) E57D probably benign Het
Cad T C 5: 31,224,944 (GRCm39) V949A probably damaging Het
Cadps2 C T 6: 23,321,739 (GRCm39) S1051N possibly damaging Het
Ccdc66 C T 14: 27,219,313 (GRCm39) V148I probably benign Het
Ccser1 C T 6: 61,400,045 (GRCm39) P55S probably damaging Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Cep95 A G 11: 106,705,530 (GRCm39) D548G probably benign Het
Chil3 A G 3: 106,057,063 (GRCm39) Y294H probably benign Het
Chmp5 A G 4: 40,949,500 (GRCm39) D39G probably damaging Het
Chrd T A 16: 20,560,059 (GRCm39) F887I probably damaging Het
Col24a1 G T 3: 145,034,520 (GRCm39) G580V probably damaging Het
Col6a2 A T 10: 76,439,939 (GRCm39) N655K probably damaging Het
Ctsf A T 19: 4,909,868 (GRCm39) Y416F possibly damaging Het
Dennd5a A C 7: 109,533,961 (GRCm39) V77G probably damaging Het
Dnah17 A T 11: 117,951,097 (GRCm39) M2842K probably damaging Het
Dnajc13 C A 9: 104,049,811 (GRCm39) G1765V probably damaging Het
Donson A C 16: 91,480,651 (GRCm39) C243W probably damaging Het
Dpp8 A T 9: 64,985,961 (GRCm39) N817I possibly damaging Het
Eef1d G A 15: 75,768,655 (GRCm39) probably benign Het
Esf1 T A 2: 140,010,279 (GRCm39) D19V probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gm9867 C A 4: 140,049,799 (GRCm39) A128S unknown Het
Igsf23 G T 7: 19,675,662 (GRCm39) probably benign Het
Inhca T C 9: 103,146,978 (GRCm39) H292R possibly damaging Het
Kdm7a C A 6: 39,143,699 (GRCm39) probably benign Het
Kif14 G A 1: 136,453,609 (GRCm39) probably benign Het
Mroh7 T C 4: 106,537,990 (GRCm39) N1229D possibly damaging Het
Mrps11 C A 7: 78,441,611 (GRCm39) probably benign Het
Mtmr2 T A 9: 13,707,409 (GRCm39) D248E probably damaging Het
Myrfl C A 10: 116,619,114 (GRCm39) S748I probably benign Het
Nop14 T C 5: 34,807,864 (GRCm39) E366G possibly damaging Het
Or13c3 T G 4: 52,855,764 (GRCm39) I250L possibly damaging Het
Or2w25 C T 11: 59,504,480 (GRCm39) T230I possibly damaging Het
Or52z13 A G 7: 103,247,338 (GRCm39) I272V probably benign Het
Or7e177 T A 9: 20,211,861 (GRCm39) C123S probably benign Het
Or8g2b C T 9: 39,751,579 (GRCm39) P283L probably damaging Het
Phykpl G T 11: 51,476,366 (GRCm39) E29* probably null Het
Plppr4 A G 3: 117,125,295 (GRCm39) probably null Het
Prmt2 A C 10: 76,043,641 (GRCm39) probably benign Het
Prodh2 T A 7: 30,193,649 (GRCm39) Y114* probably null Het
Prr23a2 C A 9: 98,738,917 (GRCm39) H92N probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rdx C A 9: 51,977,117 (GRCm39) A122E probably damaging Het
Rspo3 T G 10: 29,330,253 (GRCm39) D236A unknown Het
Sdk2 A T 11: 113,723,084 (GRCm39) D1302E probably damaging Het
Sipa1 A T 19: 5,710,382 (GRCm39) D209E probably damaging Het
Sirpa T G 2: 129,469,856 (GRCm39) probably benign Het
Ska1 A C 18: 74,330,570 (GRCm39) probably benign Het
Slc4a9 T C 18: 36,668,331 (GRCm39) probably benign Het
Slco1b2 T C 6: 141,631,172 (GRCm39) V602A probably benign Het
Slco2a1 T C 9: 102,959,533 (GRCm39) V543A probably damaging Het
Sorcs3 A T 19: 48,682,433 (GRCm39) L489F probably damaging Het
Sorl1 T C 9: 41,982,365 (GRCm39) probably benign Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Spindoc G T 19: 7,352,100 (GRCm39) N82K probably benign Het
Stk17b C A 1: 53,796,651 (GRCm39) C372F probably damaging Het
Tbck A G 3: 132,428,052 (GRCm39) probably benign Het
Thoc1 C T 18: 9,963,267 (GRCm39) T127I probably benign Het
Togaram2 G T 17: 72,023,439 (GRCm39) R765L probably damaging Het
Tprg1 A G 16: 25,136,219 (GRCm39) Y70C probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umodl1 T C 17: 31,215,325 (GRCm39) Y1050H probably damaging Het
Vmn1r205 T A 13: 22,776,586 (GRCm39) D172V probably benign Het
Vmn1r79 A T 7: 11,910,990 (GRCm39) N291Y probably damaging Het
Vmn2r112 T A 17: 22,833,980 (GRCm39) N549K probably damaging Het
Vrk3 T A 7: 44,414,227 (GRCm39) L241Q probably damaging Het
Zc3h7a A G 16: 10,969,744 (GRCm39) S386P probably damaging Het
Other mutations in Dna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dna2 APN 10 62,802,222 (GRCm39) missense probably damaging 1.00
IGL00972:Dna2 APN 10 62,786,602 (GRCm39) missense probably benign 0.13
IGL01511:Dna2 APN 10 62,791,093 (GRCm39) missense possibly damaging 0.69
IGL01600:Dna2 APN 10 62,786,585 (GRCm39) missense probably damaging 0.96
IGL02016:Dna2 APN 10 62,796,191 (GRCm39) missense probably benign 0.00
IGL02049:Dna2 APN 10 62,792,815 (GRCm39) missense probably damaging 0.99
IGL02069:Dna2 APN 10 62,794,773 (GRCm39) missense probably benign 0.00
IGL02438:Dna2 APN 10 62,792,841 (GRCm39) missense possibly damaging 0.92
IGL02743:Dna2 APN 10 62,792,821 (GRCm39) missense possibly damaging 0.90
IGL02800:Dna2 APN 10 62,797,504 (GRCm39) critical splice donor site probably null
IGL02936:Dna2 APN 10 62,792,879 (GRCm39) missense probably damaging 1.00
supercoiled UTSW 10 62,807,772 (GRCm39) splice site probably null
R0308:Dna2 UTSW 10 62,792,753 (GRCm39) missense probably damaging 0.98
R0528:Dna2 UTSW 10 62,793,910 (GRCm39) missense probably benign 0.00
R0669:Dna2 UTSW 10 62,792,768 (GRCm39) missense probably damaging 1.00
R0697:Dna2 UTSW 10 62,785,120 (GRCm39) missense probably benign 0.01
R0839:Dna2 UTSW 10 62,805,561 (GRCm39) missense probably damaging 1.00
R0991:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R0992:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1054:Dna2 UTSW 10 62,799,602 (GRCm39) missense possibly damaging 0.84
R1082:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1084:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1184:Dna2 UTSW 10 62,794,977 (GRCm39) missense probably benign 0.00
R1193:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1196:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1226:Dna2 UTSW 10 62,796,203 (GRCm39) missense possibly damaging 0.88
R1561:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1562:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1566:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1568:Dna2 UTSW 10 62,784,966 (GRCm39) missense probably benign 0.08
R1598:Dna2 UTSW 10 62,797,436 (GRCm39) missense probably damaging 0.99
R1768:Dna2 UTSW 10 62,792,863 (GRCm39) missense probably benign 0.01
R2075:Dna2 UTSW 10 62,805,601 (GRCm39) missense probably benign 0.20
R3125:Dna2 UTSW 10 62,784,981 (GRCm39) missense possibly damaging 0.66
R3763:Dna2 UTSW 10 62,802,576 (GRCm39) missense probably damaging 1.00
R4059:Dna2 UTSW 10 62,792,768 (GRCm39) missense probably damaging 1.00
R5002:Dna2 UTSW 10 62,786,621 (GRCm39) missense probably damaging 1.00
R5160:Dna2 UTSW 10 62,782,933 (GRCm39) missense probably benign
R5567:Dna2 UTSW 10 62,802,452 (GRCm39) missense possibly damaging 0.89
R5775:Dna2 UTSW 10 62,785,021 (GRCm39) missense possibly damaging 0.94
R5984:Dna2 UTSW 10 62,798,285 (GRCm39) critical splice donor site probably null
R6604:Dna2 UTSW 10 62,803,522 (GRCm39) critical splice donor site probably null
R6702:Dna2 UTSW 10 62,809,073 (GRCm39) missense possibly damaging 0.89
R6703:Dna2 UTSW 10 62,809,073 (GRCm39) missense possibly damaging 0.89
R6812:Dna2 UTSW 10 62,795,120 (GRCm39) missense probably benign 0.18
R6820:Dna2 UTSW 10 62,800,683 (GRCm39) missense possibly damaging 0.93
R6919:Dna2 UTSW 10 62,792,782 (GRCm39) missense probably damaging 1.00
R7029:Dna2 UTSW 10 62,799,773 (GRCm39) missense probably damaging 1.00
R7082:Dna2 UTSW 10 62,790,096 (GRCm39) missense possibly damaging 0.71
R7508:Dna2 UTSW 10 62,807,772 (GRCm39) splice site probably null
R7513:Dna2 UTSW 10 62,807,747 (GRCm39) missense probably benign 0.00
R7605:Dna2 UTSW 10 62,796,054 (GRCm39) missense probably benign 0.02
R7742:Dna2 UTSW 10 62,809,073 (GRCm39) missense probably benign 0.31
R7868:Dna2 UTSW 10 62,805,643 (GRCm39) missense probably benign 0.00
R7983:Dna2 UTSW 10 62,791,173 (GRCm39) missense probably benign 0.04
R8498:Dna2 UTSW 10 62,809,094 (GRCm39) missense probably benign 0.12
R8508:Dna2 UTSW 10 62,786,673 (GRCm39) missense probably damaging 1.00
R9451:Dna2 UTSW 10 62,790,072 (GRCm39) missense probably benign 0.00
R9457:Dna2 UTSW 10 62,786,572 (GRCm39) missense probably benign 0.02
R9571:Dna2 UTSW 10 62,800,740 (GRCm39) missense probably damaging 1.00
R9772:Dna2 UTSW 10 62,786,522 (GRCm39) missense probably benign 0.13
RF007:Dna2 UTSW 10 62,802,474 (GRCm39) missense probably damaging 0.99
Z1177:Dna2 UTSW 10 62,798,203 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCCTTGCCACAGATAATCGAGGAAG -3'
(R):5'- GGTCGTGAGCAAATGACACAGACAC -3'

Sequencing Primer
(F):5'- GCAGGTAAGTGgtgtgtgtg -3'
(R):5'- gctgtctcagtgcccctc -3'
Posted On 2013-10-16