Mutagenetix > Incidental Mutations

Incidental Mutation 'R7082:Dna2'

549620

Institutional Source

Beutler Lab

Gene Symbol

Dna2

Ensembl Gene

ENSMUSG00000036875

Gene Name

DNA replication helicase/nuclease 2

Synonyms

E130315B21Rik, Dna2l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62947026-62974185 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62954317 bp

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]

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: 52,179,280	N109Y	unknown	Het
A430005L14Rik	C	T	4: 153,959,764	R11W	probably damaging	Het
Aadacl2	T	A	3: 60,024,885	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,775,333	R887G	probably benign	Het
Aox4	G	T	1: 58,224,193	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,658,819	I122T	probably damaging	Het
Batf2	G	T	19: 6,171,375	A72S	possibly damaging	Het
Bptf	T	C	11: 107,086,747	D749G	probably benign	Het
Cacybp	A	G	1: 160,203,659	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,867,873	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,729,118	D149G	probably benign	Het
Chtop	A	G	3: 90,507,584	V9A	probably benign	Het
Cnot9	A	G	1: 74,527,006	I185M	probably damaging	Het
Col6a5	A	G	9: 105,931,239	I870T	unknown	Het
Cr1l	A	G	1: 195,123,698	I159T	probably benign	Het
Cthrc1	T	C	15: 39,077,100	S33P	probably benign	Het
Dlg2	T	A	7: 90,731,984	W44R	probably benign	Het
Dlgap4	T	C	2: 156,748,422		probably null	Het
Espnl	T	A	1: 91,334,799	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,223,475	V293I	probably benign	Het
Fam76b	A	G	9: 13,833,012	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,746,954	I35F	probably benign	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gm14548	C	T	7: 3,895,511	V313M	probably damaging	Het
Gm9195	T	A	14: 72,442,712	Q2219L	probably benign	Het
Gm9573	A	T	17: 35,621,201	S698T	unknown	Het
Gnptg	T	C	17: 25,234,720	T283A	probably benign	Het
Grap2	G	A	15: 80,648,498	V289M	probably benign	Het
Hk3	T	C	13: 55,006,897	T767A	probably benign	Het
Hs3st5	A	G	10: 36,832,837	I123V	probably benign	Het
Il6st	A	G	13: 112,504,032	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,695,380	H398Q	probably damaging	Het
Kcnk1	A	G	8: 125,995,548	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,982,883	T41A	probably benign	Het
Krt14	G	A	11: 100,203,341	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,835,791	R102G	probably benign	Het
Map3k9	G	A	12: 81,724,702	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341	N5088K	probably benign	Het
Mmp9	T	A	2: 164,948,892	S67T	probably benign	Het
Mrps18c	A	G	5: 100,804,404	E143G	probably damaging	Het
Nags	C	A	11: 102,147,472	R335S	possibly damaging	Het
Nars	A	G	18: 64,504,354	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,663	V253G	possibly damaging	Het
Nos2	C	A	11: 78,928,579	T39K	probably benign	Het
Olfr1411	G	A	1: 92,596,418		probably benign	Het
Olfr574	T	C	7: 102,949,248	V261A	probably damaging	Het
Olfr601	C	A	7: 103,358,288	R302L	possibly damaging	Het
Olfr796	T	A	10: 129,607,547	*311Y	probably null	Het
Olfr796	T	A	10: 129,607,548	*311L	probably null	Het
Olfr798	C	T	10: 129,625,765	V99M	probably benign	Het
Panx3	G	A	9: 37,666,617	P106S	probably benign	Het
Pappa2	G	A	1: 158,763,119	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,266,991	D665G	probably damaging	Het
Pde2a	T	C	7: 101,508,096	L676P	probably damaging	Het
Pf4	A	G	5: 90,772,992	T60A	possibly damaging	Het
Pld5	A	T	1: 176,089,876	C164S	probably benign	Het
Psd3	A	T	8: 67,904,148	M640K	probably benign	Het
Ptf1a	A	G	2: 19,445,865	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,708,730	C313Y	probably benign	Het
Ranbp10	A	G	8: 105,773,946	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,718,936	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,115,559	L4P	probably benign	Het
Rgs12	A	G	5: 34,966,706	N611S	probably benign	Het
Sacs	C	A	14: 61,210,517	N3337K	possibly damaging	Het
Sbno2	A	T	10: 80,060,090		probably null	Het
Scrn2	T	A	11: 97,033,082	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,154,407	I198L	probably benign	Het
Shank2	T	C	7: 144,410,359	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,377,941	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,791,027	E406A	probably damaging	Het
Speg	C	T	1: 75,411,447	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,057,732	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,021,520	Y188N	probably damaging	Het
Sspo	A	T	6: 48,478,609		probably null	Het
Ssx2ip	A	T	3: 146,430,948	D317V	probably benign	Het
Tmco3	G	T	8: 13,320,847	E172*	probably null	Het
Trpc4	G	A	3: 54,299,098	W573*	probably null	Het
Ttn	T	C	2: 76,749,996	I23518V	probably benign	Het
Tubal3	A	G	13: 3,933,050	T277A	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,890,065	R1086L	probably damaging	Het
Unc5b	A	T	10: 60,775,088	L391H	probably damaging	Het
Vmn2r76	A	G	7: 86,225,232	F846L	probably benign	Het
Vps13c	T	A	9: 67,883,453	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,332,393	S498*	probably null	Het
Zfand4	T	A	6: 116,328,376		probably null	Het
Zfp451	A	T	1: 33,772,891		probably null	Het
Zfp607a	A	T	7: 27,878,758	I418F	probably damaging	Het
Zfp612	A	G	8: 110,089,705	T515A	probably damaging	Het
Zfp708	G	T	13: 67,071,136	L208I	possibly damaging	Het

Other mutations in Dna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Dna2	APN	10	62966443	missense	probably damaging	1.00
IGL00972:Dna2	APN	10	62950823	missense	probably benign	0.13
IGL01511:Dna2	APN	10	62955314	missense	possibly damaging	0.69
IGL01600:Dna2	APN	10	62950806	missense	probably damaging	0.96
IGL02016:Dna2	APN	10	62960412	missense	probably benign	0.00
IGL02049:Dna2	APN	10	62957036	missense	probably damaging	0.99
IGL02069:Dna2	APN	10	62958994	missense	probably benign	0.00
IGL02438:Dna2	APN	10	62957062	missense	possibly damaging	0.92
IGL02743:Dna2	APN	10	62957042	missense	possibly damaging	0.90
IGL02800:Dna2	APN	10	62961725	critical splice donor site	probably null
IGL02936:Dna2	APN	10	62957100	missense	probably damaging	1.00
supercoiled	UTSW	10	62971993	splice site	probably null
R0308:Dna2	UTSW	10	62956974	missense	probably damaging	0.98
R0528:Dna2	UTSW	10	62958131	missense	probably benign	0.00
R0669:Dna2	UTSW	10	62956989	missense	probably damaging	1.00
R0697:Dna2	UTSW	10	62949341	missense	probably benign	0.01
R0831:Dna2	UTSW	10	62959329	nonsense	probably null
R0839:Dna2	UTSW	10	62969782	missense	probably damaging	1.00
R0991:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R0992:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1054:Dna2	UTSW	10	62963823	missense	possibly damaging	0.84
R1082:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1084:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1184:Dna2	UTSW	10	62959198	missense	probably benign	0.00
R1193:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1196:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1226:Dna2	UTSW	10	62960424	missense	possibly damaging	0.88
R1561:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1562:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1566:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1568:Dna2	UTSW	10	62949187	missense	probably benign	0.08
R1598:Dna2	UTSW	10	62961657	missense	probably damaging	0.99
R1768:Dna2	UTSW	10	62957084	missense	probably benign	0.01
R2075:Dna2	UTSW	10	62969822	missense	probably benign	0.20
R3125:Dna2	UTSW	10	62949202	missense	possibly damaging	0.66
R3763:Dna2	UTSW	10	62966797	missense	probably damaging	1.00
R4059:Dna2	UTSW	10	62956989	missense	probably damaging	1.00
R5002:Dna2	UTSW	10	62950842	missense	probably damaging	1.00
R5160:Dna2	UTSW	10	62947154	missense	probably benign
R5567:Dna2	UTSW	10	62966673	missense	possibly damaging	0.89
R5775:Dna2	UTSW	10	62949242	missense	possibly damaging	0.94
R5984:Dna2	UTSW	10	62962506	critical splice donor site	probably null
R6604:Dna2	UTSW	10	62967743	critical splice donor site	probably null
R6702:Dna2	UTSW	10	62973294	missense	possibly damaging	0.89
R6703:Dna2	UTSW	10	62973294	missense	possibly damaging	0.89
R6812:Dna2	UTSW	10	62959341	missense	probably benign	0.18
R6820:Dna2	UTSW	10	62964904	missense	possibly damaging	0.93
R6919:Dna2	UTSW	10	62957003	missense	probably damaging	1.00
R7029:Dna2	UTSW	10	62963994	missense	probably damaging	1.00
R7508:Dna2	UTSW	10	62971993	splice site	probably null
R7513:Dna2	UTSW	10	62971968	missense	probably benign	0.00
R7605:Dna2	UTSW	10	62960275	missense	probably benign	0.02
R7742:Dna2	UTSW	10	62973294	missense	probably benign	0.31
R7868:Dna2	UTSW	10	62969864	missense	probably benign	0.00
R7983:Dna2	UTSW	10	62955394	missense	probably benign	0.04
R8508:Dna2	UTSW	10	62950894	missense	probably damaging	1.00
RF007:Dna2	UTSW	10	62966695	missense	probably damaging	0.99
Z1177:Dna2	UTSW	10	62962424	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