Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Orc2'

683544

Institutional Source

Beutler Lab

Gene Symbol

Orc2

Ensembl Gene

ENSMUSG00000026037

Gene Name

origin recognition complex, subunit 2

Synonyms

Orc2l

MMRRC Submission

068811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58501930-58544268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58511499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 370 (D370G)

Ref Sequence

ENSEMBL: ENSMUSP00000027198 (fasta)

Gene Model

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

AlphaFold

Q60862

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027198
AA Change: D370G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: D370G

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: D322G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037
AA Change: D322G

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

Meta Mutation Damage Score

0.4879

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Celf3	A	G	3: 94,392,667 (GRCm39)	D122G	probably benign	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Cpne7	A	G	8: 123,861,177 (GRCm39)		probably null	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,786,650 (GRCm39)	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Prickle4	A	T	17: 47,999,772 (GRCm39)		probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886 (GRCm38)	C4R	possibly damaging	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	probably benign	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
R5997:Orc2	UTSW	1	58,511,547 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCTAGAGGAAATTCATAGACCAC -3'
(R):5'- ACCCAGTGGAGTTTAAGTGC -3'

Sequencing Primer
(F):5'- TCATAGACCACATAAGTGTAATAGGG -3'
(R):5'- CAGTGGAGTTTAAGTGCTTTTTGAAC -3'

Posted On

2021-10-11