Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Orc2'

350926

Institutional Source

Beutler Lab

Gene Symbol

Orc2

Ensembl Gene

ENSMUSG00000026037

Gene Name

origin recognition complex, subunit 2

Synonyms

Orc2l

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58462771-58505109 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58500309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 57 (L57*)

Ref Sequence

ENSEMBL: ENSMUSP00000027198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027198] [ENSMUST00000114325] [ENSMUST00000190695] [ENSMUST00000191206]

AlphaFold

Q60862

Predicted Effect

probably null
Transcript: ENSMUST00000027198
AA Change: L57*

SMART Domains

Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: L57*

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: ENSMUST00000114325

SMART Domains

Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160947

Predicted Effect

probably benign
Transcript: ENSMUST00000190695

Predicted Effect

probably benign
Transcript: ENSMUST00000191206

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Orc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Orc2	APN	1	58493716	missense	possibly damaging	0.81
IGL00549:Orc2	APN	1	58481042	missense	probably benign	0.00
IGL01343:Orc2	APN	1	58492855	critical splice donor site	probably null
IGL01357:Orc2	APN	1	58497392	missense	probably benign	0.26
IGL01357:Orc2	APN	1	58497393	missense	probably benign	0.00
IGL02167:Orc2	APN	1	58483639	unclassified	probably benign
IGL02343:Orc2	APN	1	58469666	critical splice donor site	probably null
IGL02548:Orc2	APN	1	58466122	unclassified	probably benign
R0557:Orc2	UTSW	1	58469687	missense	probably damaging	1.00
R1470:Orc2	UTSW	1	58481158	unclassified	probably benign
R1886:Orc2	UTSW	1	58471088	critical splice acceptor site	probably null
R2065:Orc2	UTSW	1	58469695	missense	probably damaging	1.00
R3848:Orc2	UTSW	1	58480992	missense	probably benign	0.08
R4389:Orc2	UTSW	1	58474861	missense	probably benign	0.21
R4393:Orc2	UTSW	1	58467650	critical splice donor site	probably null
R5183:Orc2	UTSW	1	58474818	missense	possibly damaging	0.83
R5652:Orc2	UTSW	1	58466072	missense	probably damaging	0.99
R5793:Orc2	UTSW	1	58497388	start codon destroyed	probably null	0.27
R5997:Orc2	UTSW	1	58472388	missense	probably damaging	1.00
R6007:Orc2	UTSW	1	58467692	missense	probably benign	0.03
R6330:Orc2	UTSW	1	58500334	missense	probably benign
R6656:Orc2	UTSW	1	58493659	critical splice donor site	probably null
R6923:Orc2	UTSW	1	58500375	missense	probably benign	0.01
R6934:Orc2	UTSW	1	58500364	missense	probably benign	0.28
R7354:Orc2	UTSW	1	58469747	missense	possibly damaging	0.96
R7718:Orc2	UTSW	1	58480317	missense	possibly damaging	0.65
R7950:Orc2	UTSW	1	58467668	missense	possibly damaging	0.64
R8820:Orc2	UTSW	1	58476480	missense	probably benign	0.30
R8858:Orc2	UTSW	1	58493698	missense	probably benign	0.28
R8956:Orc2	UTSW	1	58466062	missense	probably damaging	0.98
R8978:Orc2	UTSW	1	58472340	missense	possibly damaging	0.82
R9126:Orc2	UTSW	1	58476469	missense	probably benign	0.41
R9210:Orc2	UTSW	1	58476536	missense	probably damaging	1.00
R9212:Orc2	UTSW	1	58476536	missense	probably damaging	1.00
R9406:Orc2	UTSW	1	58467683	missense	probably damaging	1.00
R9746:Orc2	UTSW	1	58497451	missense	probably damaging	1.00
Z1088:Orc2	UTSW	1	58476516	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTAGATTCGACACACAACTGTAC -3'
(R):5'- ACTGACCCTGCGTTTAGTGTG -3'

Sequencing Primer
(F):5'- TTCGACACACAACTGTACTATATGAC -3'
(R):5'- AGGACAACTCTCTGGAATTGGTTCTC -3'

Posted On

2015-10-08