Incidental Mutation 'R1768:Dna2'
ID 194607
Institutional Source Beutler Lab
Gene Symbol Dna2
Ensembl Gene ENSMUSG00000036875
Gene Name DNA replication helicase/nuclease 2
Synonyms Dna2l, E130315B21Rik
MMRRC Submission 039799-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1768 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62782805-62809964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62792863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 293 (Y293H)
Ref Sequence ENSEMBL: ENSMUSP00000115750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]
AlphaFold Q6ZQJ5
Predicted Effect probably benign
Transcript: ENSMUST00000092462
AA Change: Y293H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: Y293H

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: Y293H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: Y293H

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 0.1718 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 91% (107/117)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,623,470 (GRCm39) R60P possibly damaging Het
Aox1 T A 1: 58,393,354 (GRCm39) C1199S probably benign Het
Arhgap18 G A 10: 26,763,857 (GRCm39) M482I probably damaging Het
Arhgap18 G T 10: 26,763,858 (GRCm39) A483S probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
BC051019 T C 7: 109,322,381 (GRCm39) T38A probably benign Het
Bcam T C 7: 19,499,543 (GRCm39) N192S probably null Het
Bend5 A T 4: 111,311,438 (GRCm39) K351* probably null Het
Bicdl2 T A 17: 23,884,923 (GRCm39) M208K probably damaging Het
Ccp110 A T 7: 118,325,247 (GRCm39) probably null Het
Cdc6 A T 11: 98,803,043 (GRCm39) T328S probably damaging Het
Cdk5rap2 G T 4: 70,225,470 (GRCm39) N558K probably benign Het
Cdkn1c C T 7: 143,012,858 (GRCm39) R146K probably benign Het
Ceacam18 G A 7: 43,297,918 (GRCm39) C371Y probably benign Het
Cep95 T A 11: 106,697,177 (GRCm39) C233* probably null Het
Chrnd A G 1: 87,122,650 (GRCm39) I144V probably benign Het
Col6a4 T A 9: 105,957,299 (GRCm39) Q175L probably benign Het
Cym A T 3: 107,120,816 (GRCm39) V263E probably damaging Het
Cyp2a4 G T 7: 26,012,197 (GRCm39) V327F possibly damaging Het
Dhx29 T A 13: 113,084,774 (GRCm39) M664K probably damaging Het
Dlec1 T G 9: 118,975,075 (GRCm39) probably null Het
Dnase1l3 T A 14: 7,974,104 (GRCm38) N196Y probably damaging Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Efcab14 A T 4: 115,610,116 (GRCm39) probably null Het
Entpd5 C T 12: 84,432,985 (GRCm39) R189H probably benign Het
Exoc4 A T 6: 33,734,985 (GRCm39) K534M probably damaging Het
Extl1 T A 4: 134,098,449 (GRCm39) Y194F probably benign Het
Eya1 A G 1: 14,323,299 (GRCm39) L161S possibly damaging Het
Fam163b T C 2: 27,002,874 (GRCm39) E41G possibly damaging Het
Fam180a A C 6: 35,292,287 (GRCm39) S40A probably benign Het
Fbxl4 T C 4: 22,385,950 (GRCm39) S186P probably benign Het
Fbxw19 A T 9: 109,323,840 (GRCm39) L45* probably null Het
Fgf14 G T 14: 124,913,924 (GRCm39) T69N probably benign Het
Flt1 A G 5: 147,609,519 (GRCm39) Y432H probably damaging Het
Frmd4b A T 6: 97,283,725 (GRCm39) L374Q possibly damaging Het
G6pc2 T A 2: 69,053,321 (GRCm39) V125D probably damaging Het
Gm10033 T C 8: 69,826,210 (GRCm39) I119M unknown Het
Gna15 A T 10: 81,347,954 (GRCm39) L164Q probably damaging Het
Gnaz C A 10: 74,827,702 (GRCm39) D151E possibly damaging Het
Has1 T C 17: 18,070,562 (GRCm39) T120A probably benign Het
Hectd4 T A 5: 121,496,366 (GRCm39) D3919E possibly damaging Het
Hs3st5 A G 10: 36,709,165 (GRCm39) I233M probably benign Het
Ilf3 T C 9: 21,314,438 (GRCm39) probably benign Het
Inpp5b T A 4: 124,687,069 (GRCm39) L765* probably null Het
Insr A T 8: 3,209,561 (GRCm39) I1174N probably damaging Het
Kash5 T A 7: 44,838,227 (GRCm39) probably null Het
Kcnq3 A G 15: 65,877,755 (GRCm39) L445P probably damaging Het
Kctd20 A T 17: 29,181,824 (GRCm39) N159Y probably damaging Het
Kctd20 A T 17: 29,185,755 (GRCm39) D366V probably damaging Het
Klk15 T C 7: 43,587,757 (GRCm39) probably benign Het
Lama4 T G 10: 38,979,497 (GRCm39) N1658K possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mas1 T C 17: 13,060,586 (GRCm39) Y279C probably damaging Het
Mast2 G T 4: 116,164,156 (GRCm39) D1747E probably damaging Het
Mest G A 6: 30,745,138 (GRCm39) M235I probably benign Het
Mfsd6 A G 1: 52,699,964 (GRCm39) probably null Het
Mllt10 T A 2: 18,167,657 (GRCm39) S449R probably damaging Het
Mon2 T A 10: 122,849,668 (GRCm39) T1211S probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Myh15 A T 16: 48,983,498 (GRCm39) T1538S probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Npy1r A G 8: 67,157,177 (GRCm39) D199G possibly damaging Het
Numbl A G 7: 26,980,379 (GRCm39) T454A probably benign Het
Nutm2 T G 13: 50,627,152 (GRCm39) F436V probably damaging Het
Opa1 T C 16: 29,439,628 (GRCm39) S773P probably benign Het
Or12e1 T A 2: 87,022,042 (GRCm39) S4T probably benign Het
Or2d3 A T 7: 106,491,184 (GRCm39) probably null Het
Or2d3 G T 7: 106,491,185 (GRCm39) L44M probably damaging Het
Or2r11 A G 6: 42,437,611 (GRCm39) L114S probably damaging Het
Or2t48 A G 11: 58,420,602 (GRCm39) L70P probably damaging Het
Or51b17 A G 7: 103,542,484 (GRCm39) S153P probably benign Het
Or51m1 C T 7: 103,578,932 (GRCm39) R301* probably null Het
Or52e7 A G 7: 104,685,157 (GRCm39) S251G probably benign Het
Or52i2 A G 7: 102,319,508 (GRCm39) Y127C probably damaging Het
Or8b12c T A 9: 37,715,599 (GRCm39) Y131N probably damaging Het
Pde8a G C 7: 80,950,471 (GRCm39) probably null Het
Pgam1 T C 19: 41,906,144 (GRCm39) F232S probably damaging Het
Pgk1 T A X: 105,243,914 (GRCm39) V303E possibly damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Plxnc1 C T 10: 94,680,184 (GRCm39) V824I probably benign Het
Ppp6r1 A G 7: 4,636,691 (GRCm39) probably null Het
Rapgef4 C A 2: 72,056,131 (GRCm39) probably benign Het
Rars1 T A 11: 35,700,465 (GRCm39) T539S probably damaging Het
Rbm44 G T 1: 91,081,679 (GRCm39) probably null Het
Samd4b A G 7: 28,113,317 (GRCm39) I216T probably benign Het
Serpine2 A C 1: 79,794,532 (GRCm39) F134V probably damaging Het
Shmt1 A G 11: 60,683,790 (GRCm39) Y341H probably damaging Het
Slc23a2 C A 2: 131,917,561 (GRCm39) V226F probably benign Het
Slc23a4 A G 6: 34,933,896 (GRCm39) I69T probably damaging Het
Slc37a1 C A 17: 31,552,652 (GRCm39) T319K possibly damaging Het
Slc6a4 A T 11: 76,904,078 (GRCm39) T178S probably damaging Het
Smarca4 G A 9: 21,612,479 (GRCm39) A1588T possibly damaging Het
Spag17 A T 3: 99,934,668 (GRCm39) Y650F possibly damaging Het
Stab2 C T 10: 86,838,872 (GRCm39) G65S probably damaging Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Stip1 C A 19: 6,999,165 (GRCm39) C471F probably damaging Het
Taf1 T C X: 100,584,500 (GRCm39) S223P probably benign Het
Tchh C A 3: 93,350,882 (GRCm39) N107K possibly damaging Het
Tenm3 A C 8: 48,685,139 (GRCm39) H2432Q probably damaging Het
Tmem243 A G 5: 9,168,548 (GRCm39) N110S probably damaging Het
Toe1 A T 4: 116,662,076 (GRCm39) I306F probably benign Het
Trank1 G A 9: 111,221,995 (GRCm39) V2911M probably damaging Het
Trpm4 A G 7: 44,958,036 (GRCm39) I811T probably damaging Het
Tspear T A 10: 77,710,950 (GRCm39) probably null Het
Ttc28 A T 5: 111,425,034 (GRCm39) I1589F possibly damaging Het
Tubgcp3 A G 8: 12,699,686 (GRCm39) probably benign Het
U2af2 C A 7: 5,070,544 (GRCm39) R78S probably benign Het
Wdr17 A T 8: 55,126,689 (GRCm39) D388E possibly damaging Het
Wdr3 A T 3: 100,061,186 (GRCm39) S261T probably benign Het
Zfp667 A G 7: 6,308,066 (GRCm39) N245D possibly damaging Het
Zfp692 A G 11: 58,201,002 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,370 (GRCm39) H953R 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
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
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'- TTCAGGCCAAGCGATGGCAGTAAC -3'
(R):5'- GTGTCCAGCAAAGGAAGCCACTAAATC -3'

Sequencing Primer
(F):5'- GCAGTAACAGAAGTTCACCTTG -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2014-05-23