Mutagenetix > Incidental Mutation

Incidental Mutation 'R4620:Orc5'

345231

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

042008-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22691478-22755358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22734174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 203 (D203E)

Ref Sequence

ENSEMBL: ENSMUSP00000120214 (fasta)

Gene Model

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

AlphaFold

Q9WUV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030872
AA Change: D221E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: D221E

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

noncoding transcript
Transcript: ENSMUST00000051985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135906

Predicted Effect

probably damaging
Transcript: ENSMUST00000141263
AA Change: D203E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: D203E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142987

Meta Mutation Damage Score

0.5691

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,335 (GRCm39)	Y433*	probably null	Het
Apba2	C	T	7: 64,364,215 (GRCm39)	R331C	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
B3gnt5	A	T	16: 19,588,632 (GRCm39)	M284L	probably benign	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Blvra	T	C	2: 126,938,885 (GRCm39)	I287T	probably damaging	Het
Capn5	T	C	7: 97,778,578 (GRCm39)	Y347C	probably damaging	Het
Cdcp2	A	G	4: 106,963,927 (GRCm39)	E259G	probably damaging	Het
Cdh2	A	G	18: 16,781,665 (GRCm39)	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,184,943 (GRCm39)	I1169T	probably benign	Het
Cenpj	A	G	14: 56,772,911 (GRCm39)	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,805,619 (GRCm39)	H1497L	probably benign	Het
Chat	A	G	14: 32,175,775 (GRCm39)	M95T	probably damaging	Het
Csmd1	T	C	8: 16,052,694 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,449,149 (GRCm39)	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,701,006 (GRCm39)		probably null	Het
Dll1	C	T	17: 15,590,828 (GRCm39)	A332T	probably benign	Het
Dmrta1	A	T	4: 89,577,021 (GRCm39)	Q159L	probably benign	Het
Dnai3	A	T	3: 145,748,564 (GRCm39)	L850Q	probably damaging	Het
Eci3	A	T	13: 35,132,741 (GRCm39)	M212K	probably damaging	Het
Eml4	T	C	17: 83,768,962 (GRCm39)	F557L	probably benign	Het
Fat3	A	T	9: 15,908,190 (GRCm39)	V2604D	probably damaging	Het
Frem3	T	C	8: 81,395,586 (GRCm39)	V1871A	possibly damaging	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
H2-M3	C	A	17: 37,583,310 (GRCm39)	T257K	probably damaging	Het
Hdgf	A	G	3: 87,821,883 (GRCm39)	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,236,599 (GRCm39)	N226Y	probably damaging	Het
Itgav	T	C	2: 83,586,246 (GRCm39)	Y169H	probably benign	Het
Kalrn	T	G	16: 33,849,075 (GRCm39)	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kif6	T	C	17: 50,208,324 (GRCm39)	V735A	probably benign	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Megf8	G	A	7: 25,054,523 (GRCm39)	A1880T	possibly damaging	Het
Miox	A	T	15: 89,220,324 (GRCm39)	Y172F	probably benign	Het
Myo18a	G	A	11: 77,708,773 (GRCm39)	R48H	possibly damaging	Het
Ndufb7	T	C	8: 84,293,487 (GRCm39)	S14P	probably damaging	Het
Npepps	A	T	11: 97,129,070 (GRCm39)	H371Q	probably damaging	Het
Or10d5j	C	T	9: 39,868,205 (GRCm39)	V9M	probably damaging	Het
Or52e15	T	A	7: 104,645,830 (GRCm39)	I94F	probably damaging	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or8b12c	A	G	9: 37,716,115 (GRCm39)	T303A	probably benign	Het
Pappa	A	G	4: 65,245,265 (GRCm39)	T1518A	probably benign	Het
Pde6a	A	G	18: 61,395,563 (GRCm39)	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,750,718 (GRCm39)	V136I	possibly damaging	Het
Postn	A	C	3: 54,284,414 (GRCm39)	D627A	probably damaging	Het
Prpf39	T	C	12: 65,089,337 (GRCm39)	V25A	probably benign	Het
Pxdc1	A	G	13: 34,836,297 (GRCm39)	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,644,243 (GRCm39)	E514V	probably damaging	Het
Rag1	A	T	2: 101,474,025 (GRCm39)	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,057,968 (GRCm39)		probably benign	Het
Rexo5	A	G	7: 119,426,526 (GRCm39)	I317V	probably benign	Het
Rragc	A	G	4: 123,818,622 (GRCm39)	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,191,129 (GRCm39)	S187P	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Slfn5	G	A	11: 82,852,478 (GRCm39)	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,194,838 (GRCm39)	A722T	probably benign	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Themis2	A	G	4: 132,513,333 (GRCm39)	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,952 (GRCm39)	N37T	probably benign	Het
Tmem62	A	G	2: 120,826,845 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,941,853 (GRCm39)	M75I	probably benign	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698 (GRCm39)	G64E	probably damaging	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,054,011 (GRCm39)	F1603Y	probably damaging	Het
Xpo4	A	T	14: 57,867,782 (GRCm39)	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,662,178 (GRCm39)	Y792*	probably null	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
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
R9186:Orc5	UTSW	5	22,752,944 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATCAGATCGCAGCAGGTG -3'
(R):5'- TTAGCCGGAGATGCTTAACCC -3'

Sequencing Primer
(F):5'- GTGCTAACACACAGACAGAAATC -3'
(R):5'- CGGAGATGCTTAACCCATCATTTATG -3'

Posted On

2015-09-25