Mutagenetix > Incidental Mutation

Incidental Mutation 'R9186:Orc5'

697364

Institutional Source

Beutler Lab

Gene Symbol

Orc5

Ensembl Gene

ENSMUSG00000029012

Gene Name

origin recognition complex, subunit 5

Synonyms

mouse origin recognition complex 5, Orc5l, MmORC5

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R9186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22691478-22755358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22752944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 48 (Q48L)

Ref Sequence

ENSEMBL: ENSMUSP00000030872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030872] [ENSMUST00000141263]

AlphaFold

Q9WUV0

Predicted Effect

probably benign
Transcript: ENSMUST00000030872
AA Change: Q48L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: Q48L

Domain	Start	End	E-Value	Type
Pfam:AAA_16	7	155	2.4e-15	PFAM
Pfam:AAA_22	28	160	2.9e-9	PFAM
Pfam:ORC5_C	177	431	5.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141263
AA Change: Q30L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: Q30L

Domain	Start	End	E-Value	Type
Pfam:AAA_16	3	137	2.6e-9	PFAM
Pfam:AAA_22	11	144	1.1e-9	PFAM
Pfam:ORC5_C	159	312	2.7e-51	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 subunit 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,472 (GRCm39)	R634L	probably damaging	Het
Ankhd1	T	C	18: 36,767,383 (GRCm39)	I210T	possibly damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arid3b	A	T	9: 57,702,217 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,726,620 (GRCm39)	N133D	probably damaging	Het
Bag6	C	T	17: 35,363,667 (GRCm39)	R784W	probably damaging	Het
Ccnl1	T	C	3: 65,865,426 (GRCm39)	T42A	unknown	Het
Cd164	C	A	10: 41,404,695 (GRCm39)	P151Q	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ceacam2	T	A	7: 25,227,213 (GRCm39)	N218I	probably damaging	Het
Cfap97	C	T	8: 46,644,665 (GRCm39)	R466C	possibly damaging	Het
Colgalt2	C	A	1: 152,384,403 (GRCm39)	T581K	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dusp13b	A	T	14: 21,798,563 (GRCm39)	S34T	probably damaging	Het
Esf1	T	A	2: 139,990,792 (GRCm39)	K564I	possibly damaging	Het
F5	A	G	1: 164,021,470 (GRCm39)	N1315S	probably benign	Het
Fubp1	A	T	3: 151,926,153 (GRCm39)	M292L	probably damaging	Het
Gabrb2	A	T	11: 42,378,200 (GRCm39)	M139L	possibly damaging	Het
Gk5	T	A	9: 96,015,469 (GRCm39)	V95D	probably benign	Het
Glcci1	C	A	6: 8,537,826 (GRCm39)	P148Q	possibly damaging	Het
Gm19410	A	T	8: 36,282,629 (GRCm39)	S1952C	possibly damaging	Het
Gstm4	T	C	3: 107,952,049 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,436,227 (GRCm39)	L1211Q	probably damaging	Het
Helz2	A	G	2: 180,876,457 (GRCm39)	S1346P	possibly damaging	Het
Hexb	A	C	13: 97,325,836 (GRCm39)	V158G	probably damaging	Het
Hipk3	T	C	2: 104,301,439 (GRCm39)	E251G	probably damaging	Het
Hps5	T	C	7: 46,438,370 (GRCm39)	Y89C	probably damaging	Het
Iqub	A	T	6: 24,450,766 (GRCm39)	V611D	possibly damaging	Het
Itgbl1	G	A	14: 124,094,970 (GRCm39)	D332N	probably benign	Het
Krtap26-1	C	A	16: 88,444,609 (GRCm39)	R4L	unknown	Het
Lgi3	A	G	14: 70,772,193 (GRCm39)	Y246C	probably damaging	Het
Mug2	T	A	6: 122,052,248 (GRCm39)	I1002N	probably damaging	Het
Myo18a	C	T	11: 77,749,847 (GRCm39)	T66M		Het
Naip6	T	C	13: 100,436,390 (GRCm39)	D711G	possibly damaging	Het
Or4f59	C	A	2: 111,873,095 (GRCm39)	C94F	probably damaging	Het
Oxct2a	C	A	4: 123,216,461 (GRCm39)	A307S	probably damaging	Het
Pgls	T	C	8: 72,048,833 (GRCm39)	*258Q	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Polr1c	G	T	17: 46,556,633 (GRCm39)	N97K	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prtg	T	C	9: 72,764,159 (GRCm39)	V544A	probably benign	Het
Rbl2	G	A	8: 91,828,006 (GRCm39)	G574S	probably damaging	Het
Scamp1	T	A	13: 94,344,682 (GRCm39)	T272S	possibly damaging	Het
Sun2	T	A	15: 79,611,737 (GRCm39)	D562V	probably damaging	Het
Szt2	A	G	4: 118,242,288 (GRCm39)	F1565S	probably damaging	Het
Tatdn2	C	T	6: 113,687,125 (GRCm39)	R779C	probably benign	Het
Tbc1d30	T	C	10: 121,111,639 (GRCm39)	I430V	probably benign	Het
Tmem86b	T	C	7: 4,632,725 (GRCm39)	D43G	probably damaging	Het
Tnrc18	T	C	5: 142,773,488 (GRCm39)	N447S		Het
Trmt2a	T	C	16: 18,069,033 (GRCm39)	S292P	probably benign	Het
Trpc2	T	C	7: 101,737,492 (GRCm39)	V428A	probably damaging	Het
Tsc2	T	C	17: 24,823,862 (GRCm39)	E981G	probably damaging	Het
Ucp1	G	T	8: 84,017,272 (GRCm39)	G21*	probably null	Het
Utrn	T	C	10: 12,490,318 (GRCm39)	T21A	probably benign	Het
Vapa	A	T	17: 65,900,507 (GRCm39)	N88K	probably damaging	Het
Wasl	T	C	6: 24,664,615 (GRCm39)	R10G	probably damaging	Het
Zan	C	A	5: 137,391,810 (GRCm39)	V4662F	unknown	Het
Zap70	G	A	1: 36,818,832 (GRCm39)	M382I	possibly damaging	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het

Other mutations in Orc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Orc5	APN	5	22,728,537 (GRCm39)	missense	probably damaging	0.99
IGL00488:Orc5	APN	5	22,721,771 (GRCm39)	missense	probably damaging	0.99
IGL01915:Orc5	APN	5	22,727,381 (GRCm39)	unclassified	probably benign
IGL02385:Orc5	APN	5	22,731,438 (GRCm39)	missense	probably damaging	1.00
IGL02830:Orc5	APN	5	22,734,265 (GRCm39)	missense	probably damaging	1.00
IGL03128:Orc5	APN	5	22,721,771 (GRCm39)	missense	probably damaging	0.99
R0372:Orc5	UTSW	5	22,738,782 (GRCm39)	missense	possibly damaging	0.91
R0446:Orc5	UTSW	5	22,751,455 (GRCm39)	missense	probably benign	0.19
R2060:Orc5	UTSW	5	22,721,701 (GRCm39)	critical splice donor site	probably null
R2144:Orc5	UTSW	5	22,752,925 (GRCm39)	missense	possibly damaging	0.94
R2375:Orc5	UTSW	5	22,751,550 (GRCm39)	missense	probably damaging	1.00
R3875:Orc5	UTSW	5	22,742,564 (GRCm39)	missense	probably benign	0.00
R4620:Orc5	UTSW	5	22,734,174 (GRCm39)	missense	probably damaging	1.00
R4625:Orc5	UTSW	5	22,753,003 (GRCm39)	missense	probably benign
R4626:Orc5	UTSW	5	22,753,003 (GRCm39)	missense	probably benign
R4627:Orc5	UTSW	5	22,753,003 (GRCm39)	missense	probably benign
R4629:Orc5	UTSW	5	22,753,003 (GRCm39)	missense	probably benign
R4664:Orc5	UTSW	5	22,751,520 (GRCm39)	missense	probably benign
R5751:Orc5	UTSW	5	22,704,969 (GRCm39)	splice site	probably null
R5758:Orc5	UTSW	5	22,734,256 (GRCm39)	missense	possibly damaging	0.81
R7013:Orc5	UTSW	5	22,738,787 (GRCm39)	missense	probably benign	0.16
R7326:Orc5	UTSW	5	22,728,582 (GRCm39)	missense	probably benign	0.27
R7579:Orc5	UTSW	5	22,755,197 (GRCm39)	missense	possibly damaging	0.94
R7794:Orc5	UTSW	5	22,738,782 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GCTGGCTTAGGACATAAGTAGG -3'
(R):5'- AGGGGACACACGTTGAGTTG -3'

Sequencing Primer
(F):5'- TGGCTTAGGACATAAGTAGGTATATG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2022-02-07