Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Orc3'

369622

Institutional Source

Beutler Lab

Gene Symbol

Orc3

Ensembl Gene

ENSMUSG00000040044

Gene Name

origin recognition complex, subunit 3

Synonyms

Orc3l

MMRRC Submission

042432-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4814 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

34570796-34614944 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34572450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048706] [ENSMUST00000108142]

AlphaFold

Q9JK30

Predicted Effect

probably benign
Transcript: ENSMUST00000048706

SMART Domains

Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044

Domain	Start	End	E-Value	Type
Pfam:ORC3_N	25	350	3e-130	PFAM
low complexity region	653	664	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108142

SMART Domains

Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044

Domain	Start	End	E-Value	Type
Pfam:ORC3_N	24	350	7.7e-136	PFAM
low complexity region	652	663	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145619

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,586,896 (GRCm39)	H200R	probably benign	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,784,481 (GRCm39)		probably benign	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Kcnn3	G	T	3: 89,570,031 (GRCm39)	V615F	probably damaging	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mapt	T	C	11: 104,189,786 (GRCm39)	V252A	probably benign	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,430,343 (GRCm39)	N142K	probably benign	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	possibly damaging	Het

Other mutations in Orc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Orc3	APN	4	34,595,096 (GRCm39)	missense	probably damaging	1.00
IGL03293:Orc3	APN	4	34,595,210 (GRCm39)	missense	probably damaging	0.96
IGL02991:Orc3	UTSW	4	34,593,083 (GRCm39)	missense	probably damaging	1.00
R0157:Orc3	UTSW	4	34,607,130 (GRCm39)	critical splice donor site	probably null
R0708:Orc3	UTSW	4	34,597,368 (GRCm39)	missense	probably damaging	1.00
R1331:Orc3	UTSW	4	34,599,748 (GRCm39)	missense	probably benign	0.01
R1481:Orc3	UTSW	4	34,607,228 (GRCm39)	missense	possibly damaging	0.50
R1755:Orc3	UTSW	4	34,575,114 (GRCm39)	missense	possibly damaging	0.67
R1886:Orc3	UTSW	4	34,584,829 (GRCm39)	missense	probably damaging	1.00
R2008:Orc3	UTSW	4	34,611,049 (GRCm39)	splice site	probably null
R2054:Orc3	UTSW	4	34,584,846 (GRCm39)	missense	probably damaging	0.97
R2307:Orc3	UTSW	4	34,586,503 (GRCm39)	missense	probably damaging	1.00
R3001:Orc3	UTSW	4	34,571,790 (GRCm39)	missense	probably benign	0.10
R3002:Orc3	UTSW	4	34,571,790 (GRCm39)	missense	probably benign	0.10
R3153:Orc3	UTSW	4	34,575,124 (GRCm39)	missense	probably damaging	0.99
R4044:Orc3	UTSW	4	34,587,055 (GRCm39)	nonsense	probably null
R4825:Orc3	UTSW	4	34,571,774 (GRCm39)	missense	possibly damaging	0.95
R4939:Orc3	UTSW	4	34,593,126 (GRCm39)	nonsense	probably null
R6314:Orc3	UTSW	4	34,579,797 (GRCm39)	missense	possibly damaging	0.85
R6867:Orc3	UTSW	4	34,605,539 (GRCm39)	missense	probably damaging	1.00
R7227:Orc3	UTSW	4	34,572,542 (GRCm39)	missense	probably benign	0.00
R7417:Orc3	UTSW	4	34,595,136 (GRCm39)	missense	probably damaging	1.00
R7655:Orc3	UTSW	4	34,587,032 (GRCm39)	nonsense	probably null
R7656:Orc3	UTSW	4	34,587,032 (GRCm39)	nonsense	probably null
R7707:Orc3	UTSW	4	34,598,691 (GRCm39)	nonsense	probably null
R7856:Orc3	UTSW	4	34,585,647 (GRCm39)	missense	probably benign
R7967:Orc3	UTSW	4	34,598,645 (GRCm39)	missense	probably damaging	0.98
R8058:Orc3	UTSW	4	34,595,223 (GRCm39)	nonsense	probably null
R8443:Orc3	UTSW	4	34,593,173 (GRCm39)	missense	probably damaging	1.00
R8670:Orc3	UTSW	4	34,572,529 (GRCm39)	missense	probably damaging	1.00
R8738:Orc3	UTSW	4	34,599,778 (GRCm39)	missense	possibly damaging	0.91
R8827:Orc3	UTSW	4	34,605,569 (GRCm39)	missense	probably benign	0.01
R9303:Orc3	UTSW	4	34,607,181 (GRCm39)	nonsense	probably null
R9305:Orc3	UTSW	4	34,607,181 (GRCm39)	nonsense	probably null
R9684:Orc3	UTSW	4	34,607,135 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGCTTGCTCTGAGCTGATC -3'
(R):5'- CTAGAGGGATATAGCCAAGACTTG -3'

Sequencing Primer
(F):5'- GCTCTGAGCTGATCTGAATCC -3'
(R):5'- GGATATAGCCAAGACTTGAAGTATG -3'

Posted On

2016-02-04