Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Dna2'

549620

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

Dna2l, E130315B21Rik

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62782805-62809964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62790096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 193 (H193R)

Ref Sequence

ENSEMBL: ENSMUSP00000115750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092462] [ENSMUST00000131422]

AlphaFold

Q6ZQJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000092462
AA Change: H193R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090119
Gene: ENSMUSG00000036875
AA Change: H193R

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000131422
AA Change: H193R

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115750
Gene: ENSMUSG00000036875
AA Change: H193R

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	Het

Other mutations in Dna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CAGTGTGTTAGCGTGAGACG -3'
(R):5'- CTATCAAACACGGGTTCTGTCC -3'

Sequencing Primer
(F):5'- TAGCGTGAGACGTGCCTG -3'
(R):5'- AAACACGGGTTCTGTCCTTCAG -3'

Posted On

2019-05-15