Incidental Mutation 'R1566:Dna2'
ID 175282
Institutional Source Beutler Lab
Gene Symbol Dna2
Ensembl Gene ENSMUSG00000036875
Gene Name DNA replication helicase/nuclease 2
Synonyms Dna2l, E130315B21Rik
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62782805-62809964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62784966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 28 (R28W)
Ref Sequence ENSEMBL: ENSMUSP00000115750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000092462] [ENSMUST00000131422] [ENSMUST00000144459]
AlphaFold Q6ZQJ5
Predicted Effect probably benign
Transcript: ENSMUST00000044977
SMART Domains Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 1.7e-25 PFAM
Pfam:Mito_carr 127 220 2.3e-26 PFAM
Pfam:Mito_carr 237 332 8.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092462
AA Change: R28W

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: R28W

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 benign
Transcript: ENSMUST00000131422
AA Change: R28W

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: R28W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131715
Predicted Effect probably benign
Transcript: ENSMUST00000144459
SMART Domains Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 9.4e-28 PFAM
Pfam:Mito_carr 126 223 4.6e-25 PFAM
Pfam:Mito_carr 240 322 2.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152350
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly 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
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
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
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'- AGTGGTTCATCGTGTCCAGCTTC -3'
(R):5'- TGCACAGAACTTCGTGCTCTCG -3'

Sequencing Primer
(F):5'- ccaccacactcagacacc -3'
(R):5'- TCGTGCTCTCGGTCCTG -3'
Posted On 2014-04-24