Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Orc2'

441457

Institutional Source

Beutler Lab

Gene Symbol

Orc2

Ensembl Gene

ENSMUSG00000026037

Gene Name

origin recognition complex, subunit 2

Synonyms

Orc2l

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58501930-58544268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58505231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 475 (F475L)

Ref Sequence

ENSEMBL: ENSMUSP00000109964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027198] [ENSMUST00000087521] [ENSMUST00000114325] [ENSMUST00000114337] [ENSMUST00000171597]

AlphaFold

Q60862

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027198
AA Change: F523L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: F523L

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 benign
Transcript: ENSMUST00000087521

SMART Domains

Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	1.9e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114325
AA Change: F475L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037
AA Change: F475L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171597

SMART Domains

Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036

Domain	Start	End	E-Value	Type
Pfam:NIF3	31	363	2.5e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188295

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	possibly 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
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
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'- CAGATGCATTCCGTCTATTGC -3'
(R):5'- TAGGGGACTTTCGGGATAGC -3'

Sequencing Primer
(F):5'- TGGCCTCTCAGAAGCATCC -3'
(R):5'- GACTTTCGGGATAGCATTTGAAATG -3'

Posted On

2016-11-08