Incidental Mutation 'R1226:Dna2'
ID 152240
Institutional Source Beutler Lab
Gene Symbol Dna2
Ensembl Gene ENSMUSG00000036875
Gene Name DNA replication helicase/nuclease 2
Synonyms Dna2l, E130315B21Rik
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62782805-62809964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62796203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 544 (V544A)
Ref Sequence ENSEMBL: ENSMUSP00000115750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]
AlphaFold Q6ZQJ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000092462
AA Change: V544A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: V544A

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 possibly damaging
Transcript: ENSMUST00000131422
AA Change: V544A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: V544A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
R0831:Dna2 UTSW 10 62,795,108 (GRCm39) nonsense probably null
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
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'- ACGGAGCCTGTATCAAGAGTTTGTG -3'
(R):5'- GCTGGAACTCGGTGATAGCCTTTAC -3'

Sequencing Primer
(F):5'- GTATCAAGAGTTTGTGATGGACAG -3'
(R):5'- CTCGGTGATAGCCTTTACCTAGTG -3'
Posted On 2014-01-29