Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Orc2'

480589

Institutional Source

Beutler Lab

Gene Symbol

Orc2

Ensembl Gene

ENSMUSG00000026037

Gene Name

origin recognition complex, subunit 2

Synonyms

Orc2l

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58501930-58544268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58511547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 354 (I354T)

Ref Sequence

ENSEMBL: ENSMUSP00000027198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027198] [ENSMUST00000114325] [ENSMUST00000114337]

AlphaFold

Q60862

Predicted Effect

probably damaging
Transcript: ENSMUST00000027198
AA Change: I354T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: I354T

Domain	Start	End	E-Value	Type
low complexity region	176	201	N/A	INTRINSIC
Pfam:ORC2	254	563	2.5e-110	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114325
AA Change: I306T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037
AA Change: I306T

Domain	Start	End	E-Value	Type
low complexity region	128	153	N/A	INTRINSIC
Pfam:ORC2	206	517	1.2e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114337

SMART Domains

Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	324	4e-61	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Orc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Orc2	APN	1	58,532,875 (GRCm39)	missense	possibly damaging	0.81
IGL00549:Orc2	APN	1	58,520,201 (GRCm39)	missense	probably benign	0.00
IGL01343:Orc2	APN	1	58,532,014 (GRCm39)	critical splice donor site	probably null
IGL01357:Orc2	APN	1	58,536,552 (GRCm39)	missense	probably benign	0.00
IGL01357:Orc2	APN	1	58,536,551 (GRCm39)	missense	probably benign	0.26
IGL02167:Orc2	APN	1	58,522,798 (GRCm39)	unclassified	probably benign
IGL02343:Orc2	APN	1	58,508,825 (GRCm39)	critical splice donor site	probably null
IGL02548:Orc2	APN	1	58,505,281 (GRCm39)	unclassified	probably benign
R0557:Orc2	UTSW	1	58,508,846 (GRCm39)	missense	probably damaging	1.00
R1470:Orc2	UTSW	1	58,520,317 (GRCm39)	unclassified	probably benign
R1886:Orc2	UTSW	1	58,510,247 (GRCm39)	critical splice acceptor site	probably null
R2065:Orc2	UTSW	1	58,508,854 (GRCm39)	missense	probably damaging	1.00
R3848:Orc2	UTSW	1	58,520,151 (GRCm39)	missense	probably benign	0.08
R4389:Orc2	UTSW	1	58,514,020 (GRCm39)	missense	probably benign	0.21
R4393:Orc2	UTSW	1	58,506,809 (GRCm39)	critical splice donor site	probably null
R4613:Orc2	UTSW	1	58,539,468 (GRCm39)	nonsense	probably null
R5183:Orc2	UTSW	1	58,513,977 (GRCm39)	missense	possibly damaging	0.83
R5652:Orc2	UTSW	1	58,505,231 (GRCm39)	missense	probably damaging	0.99
R5793:Orc2	UTSW	1	58,536,547 (GRCm39)	start codon destroyed	probably null	0.27
R6007:Orc2	UTSW	1	58,506,851 (GRCm39)	missense	probably benign	0.03
R6330:Orc2	UTSW	1	58,539,493 (GRCm39)	missense	probably benign
R6656:Orc2	UTSW	1	58,532,818 (GRCm39)	critical splice donor site	probably null
R6923:Orc2	UTSW	1	58,539,534 (GRCm39)	missense	probably benign	0.01
R6934:Orc2	UTSW	1	58,539,523 (GRCm39)	missense	probably benign	0.28
R7354:Orc2	UTSW	1	58,508,906 (GRCm39)	missense	possibly damaging	0.96
R7718:Orc2	UTSW	1	58,519,476 (GRCm39)	missense	possibly damaging	0.65
R7950:Orc2	UTSW	1	58,506,827 (GRCm39)	missense	possibly damaging	0.64
R8820:Orc2	UTSW	1	58,515,639 (GRCm39)	missense	probably benign	0.30
R8858:Orc2	UTSW	1	58,532,857 (GRCm39)	missense	probably benign	0.28
R8956:Orc2	UTSW	1	58,505,221 (GRCm39)	missense	probably damaging	0.98
R8978:Orc2	UTSW	1	58,511,499 (GRCm39)	missense	possibly damaging	0.82
R9126:Orc2	UTSW	1	58,515,628 (GRCm39)	missense	probably benign	0.41
R9210:Orc2	UTSW	1	58,515,695 (GRCm39)	missense	probably damaging	1.00
R9212:Orc2	UTSW	1	58,515,695 (GRCm39)	missense	probably damaging	1.00
R9406:Orc2	UTSW	1	58,506,842 (GRCm39)	missense	probably damaging	1.00
R9746:Orc2	UTSW	1	58,536,610 (GRCm39)	missense	probably damaging	1.00
Z1088:Orc2	UTSW	1	58,515,675 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGGCACTGACCAGAGTATC -3'
(R):5'- TTTGACACATAGTTGGTCTCCC -3'

Sequencing Primer
(F):5'- CACTAAATGCTACAGATGAAG -3'
(R):5'- ACCAGTGCTCTTAACAGTTGAGC -3'

Posted On

2017-06-26