Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Orc5'

346478

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

041890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R4625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22691478-22755358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22753003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 10 (F10L)

Ref Sequence

ENSEMBL: ENSMUSP00000120214 (fasta)

Gene Model

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

AlphaFold

Q9WUV0

Predicted Effect

probably benign
Transcript: ENSMUST00000030872
AA Change: F28L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: F28L

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: ENSMUST00000135906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138248

Predicted Effect

probably benign
Transcript: ENSMUST00000141263
AA Change: F10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: F10L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181764

Meta Mutation Damage Score

0.0583

Coding Region Coverage

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

Validation Efficiency

97% (75/77)

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
1700018F24Rik	A	C	5: 144,981,693 (GRCm39)	E176A	possibly damaging	Het
Abcc2	A	G	19: 43,792,178 (GRCm39)	I320V	probably benign	Het
Abtb1	C	T	6: 88,813,269 (GRCm39)	A466T	probably benign	Het
Ak6	C	A	13: 100,792,181 (GRCm39)	T208K	probably benign	Het
Albfm1	G	T	5: 90,719,611 (GRCm39)	V236L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anapc15	T	A	7: 101,550,239 (GRCm39)		probably benign	Het
Anxa2r1	G	T	13: 120,496,765 (GRCm39)	R35S	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aspn	A	G	13: 49,710,901 (GRCm39)	D182G	probably benign	Het
Astn1	A	T	1: 158,407,864 (GRCm39)	D607V	probably damaging	Het
Btnl1	A	G	17: 34,598,725 (GRCm39)	I114V	probably null	Het
Ccdc159	A	G	9: 21,840,762 (GRCm39)	S110G	probably benign	Het
Cdh18	A	C	15: 22,714,128 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,526 (GRCm39)	I665T	probably damaging	Het
Cenpk	T	A	13: 104,385,901 (GRCm39)	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,811,412 (GRCm39)	L1397P	probably damaging	Het
Chia1	A	C	3: 106,036,256 (GRCm39)	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,744,651 (GRCm39)	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,354,487 (GRCm39)	S2244P	probably damaging	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Gm5087	T	C	14: 13,158,798 (GRCm38)		noncoding transcript	Het
Gm7135	A	C	1: 97,387,351 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,358,291 (GRCm39)	Y153*	probably null	Het
Htt	T	A	5: 34,987,129 (GRCm39)	V1116E	probably damaging	Het
Ikzf5	A	T	7: 130,995,482 (GRCm39)		probably null	Het
Kcnb1	A	G	2: 167,030,153 (GRCm39)	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Kif1a	A	T	1: 92,970,381 (GRCm39)	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370 (GRCm39)	V247A	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lamc1	A	G	1: 153,118,442 (GRCm39)	S910P	probably benign	Het
Lin9	T	A	1: 180,516,845 (GRCm39)	N512K	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,523,250 (GRCm39)	V174A	probably benign	Het
Myo1g	T	C	11: 6,462,240 (GRCm39)	E574G	probably damaging	Het
Nphp3	G	A	9: 103,913,358 (GRCm39)	G997R	possibly damaging	Het
Obscn	A	G	11: 58,958,084 (GRCm39)	C3748R	probably damaging	Het
Or1j17	A	G	2: 36,578,083 (GRCm39)	D23G	probably benign	Het
Or5p69	T	C	7: 107,966,895 (GRCm39)	L66P	probably damaging	Het
Or8g28	A	T	9: 39,169,614 (GRCm39)	M118K	probably damaging	Het
Or9s18	T	A	13: 65,300,674 (GRCm39)	V212D	possibly damaging	Het
Ptch1	T	C	13: 63,670,978 (GRCm39)	T851A	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rbp3	A	G	14: 33,678,056 (GRCm39)	Q668R	probably benign	Het
Rfwd3	T	C	8: 112,002,990 (GRCm39)	T611A	probably benign	Het
Rhcg	T	A	7: 79,251,352 (GRCm39)	D219V	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Slc25a26	G	T	6: 94,484,633 (GRCm39)	V58F	probably damaging	Het
Smarca5	T	A	8: 81,437,192 (GRCm39)	K721N	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Speer2	A	T	16: 69,655,642 (GRCm39)	Y61*	probably null	Het
Spef2	T	C	15: 9,647,524 (GRCm39)	Y961C	probably damaging	Het
Sptb	C	A	12: 76,634,100 (GRCm39)		probably null	Het
Svep1	T	G	4: 58,072,698 (GRCm39)	N2204H	probably damaging	Het
Tex56	G	A	13: 35,116,448 (GRCm39)	G66S	probably damaging	Het
Tmem86a	C	A	7: 46,702,613 (GRCm39)	P13T	probably damaging	Het
Tmt1a	A	T	15: 100,210,939 (GRCm39)	Q170L	probably damaging	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tox2	G	A	2: 163,156,336 (GRCm39)	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,963 (GRCm39)	E762D	probably benign	Het
Tshb	C	T	3: 102,685,461 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,189,131 (GRCm39)	L163*	probably null	Het
Twsg1	G	T	17: 66,236,546 (GRCm39)	D161E	probably benign	Het
Uchl4	A	C	9: 64,143,080 (GRCm39)	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,268,443 (GRCm39)	W9R	probably benign	Het
Yju2	T	A	17: 56,271,598 (GRCm39)	L173Q	probably damaging	Het
Zfp14	G	A	7: 29,738,020 (GRCm39)	Q322*	probably null	Het
Znhit3	G	A	11: 84,802,316 (GRCm39)	P145S	probably damaging	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
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'- CCTGGTTTGCAGATAGAGAAGGC -3'
(R):5'- AGGGGACACACGTTGAGTTG -3'

Sequencing Primer
(F):5'- CACTGGGTGGTGAAATAAATTGTCTC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2015-09-25