Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Orc3'

164356

Institutional Source

Beutler Lab

Gene Symbol

Orc3

Ensembl Gene

ENSMUSG00000040044

Gene Name

origin recognition complex, subunit 3

Synonyms

Orc3l

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34570796-34614944 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34607228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 34 (E34V)

Ref Sequence

ENSEMBL: ENSMUSP00000103777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048706] [ENSMUST00000108142] [ENSMUST00000140334]

AlphaFold

Q9JK30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048706
AA Change: E34V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: E34V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108142
AA Change: E34V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: E34V

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: ENSMUST00000125218

Predicted Effect

probably benign
Transcript: ENSMUST00000140334

SMART Domains

Protein: ENSMUSP00000119335
Gene: ENSMUSG00000040044

Domain	Start	End	E-Value	Type
Pfam:ORC3_N	2	278	1.4e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156987

Meta Mutation Damage Score

0.1917

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434 (GRCm38)	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634 (GRCm38)	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470 (GRCm38)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948 (GRCm38)		probably benign	Het
Ccdc178	C	T	18: 22,105,621 (GRCm38)	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633 (GRCm38)	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385 (GRCm38)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262 (GRCm38)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663 (GRCm38)	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060 (GRCm38)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882 (GRCm38)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810 (GRCm38)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588 (GRCm38)	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877 (GRCm38)	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866 (GRCm38)		probably null	Het
Dock6	T	C	9: 21,820,622 (GRCm38)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643 (GRCm38)	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517 (GRCm38)	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782 (GRCm38)	*1207W	probably null	Het
Eln	T	C	5: 134,706,572 (GRCm38)	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647 (GRCm38)	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741 (GRCm38)	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717 (GRCm38)	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654 (GRCm38)	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850 (GRCm38)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227 (GRCm38)		probably benign	Het
Gpr37	T	C	6: 25,669,138 (GRCm38)	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089 (GRCm38)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138 (GRCm38)		probably null	Het
Kcnc4	C	T	3: 107,448,218 (GRCm38)	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275 (GRCm38)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310 (GRCm38)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374 (GRCm38)	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634 (GRCm38)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857 (GRCm38)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171 (GRCm38)	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703 (GRCm38)	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999 (GRCm38)	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178 (GRCm38)	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509 (GRCm38)	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499 (GRCm38)		probably benign	Het
Ncor2	C	A	5: 125,027,138 (GRCm38)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm38)	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369 (GRCm38)	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481 (GRCm38)	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960 (GRCm38)	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149 (GRCm38)	L5R	probably benign	Het
Pcdhb13	T	A	18: 37,442,836 (GRCm38)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548 (GRCm38)	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314 (GRCm38)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993 (GRCm38)	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402 (GRCm38)	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034 (GRCm38)	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377 (GRCm38)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522 (GRCm38)		probably benign	Het
Samd4b	C	T	7: 28,414,010 (GRCm38)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301 (GRCm38)	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730 (GRCm38)	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763 (GRCm38)		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602 (GRCm38)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471 (GRCm38)	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759 (GRCm38)	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130 (GRCm38)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616 (GRCm38)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712 (GRCm38)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228 (GRCm38)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790 (GRCm38)	T259A	probably benign	Het

Other mutations in Orc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Orc3	APN	4	34,595,096 (GRCm38)	missense	probably damaging	1.00
IGL03293:Orc3	APN	4	34,595,210 (GRCm38)	missense	probably damaging	0.96
IGL02991:Orc3	UTSW	4	34,593,083 (GRCm38)	missense	probably damaging	1.00
R0157:Orc3	UTSW	4	34,607,130 (GRCm38)	critical splice donor site	probably null
R0708:Orc3	UTSW	4	34,597,368 (GRCm38)	missense	probably damaging	1.00
R1331:Orc3	UTSW	4	34,599,748 (GRCm38)	missense	probably benign	0.01
R1755:Orc3	UTSW	4	34,575,114 (GRCm38)	missense	possibly damaging	0.67
R1886:Orc3	UTSW	4	34,584,829 (GRCm38)	missense	probably damaging	1.00
R2008:Orc3	UTSW	4	34,611,049 (GRCm38)	splice site	probably null
R2054:Orc3	UTSW	4	34,584,846 (GRCm38)	missense	probably damaging	0.97
R2307:Orc3	UTSW	4	34,586,503 (GRCm38)	missense	probably damaging	1.00
R3001:Orc3	UTSW	4	34,571,790 (GRCm38)	missense	probably benign	0.10
R3002:Orc3	UTSW	4	34,571,790 (GRCm38)	missense	probably benign	0.10
R3153:Orc3	UTSW	4	34,575,124 (GRCm38)	missense	probably damaging	0.99
R4044:Orc3	UTSW	4	34,587,055 (GRCm38)	nonsense	probably null
R4814:Orc3	UTSW	4	34,572,450 (GRCm38)	splice site	probably benign
R4825:Orc3	UTSW	4	34,571,774 (GRCm38)	missense	possibly damaging	0.95
R4939:Orc3	UTSW	4	34,593,126 (GRCm38)	nonsense	probably null
R6314:Orc3	UTSW	4	34,579,797 (GRCm38)	missense	possibly damaging	0.85
R6867:Orc3	UTSW	4	34,605,539 (GRCm38)	missense	probably damaging	1.00
R7227:Orc3	UTSW	4	34,572,542 (GRCm38)	missense	probably benign	0.00
R7417:Orc3	UTSW	4	34,595,136 (GRCm38)	missense	probably damaging	1.00
R7655:Orc3	UTSW	4	34,587,032 (GRCm38)	nonsense	probably null
R7656:Orc3	UTSW	4	34,587,032 (GRCm38)	nonsense	probably null
R7707:Orc3	UTSW	4	34,598,691 (GRCm38)	nonsense	probably null
R7856:Orc3	UTSW	4	34,585,647 (GRCm38)	missense	probably benign
R7967:Orc3	UTSW	4	34,598,645 (GRCm38)	missense	probably damaging	0.98
R8058:Orc3	UTSW	4	34,595,223 (GRCm38)	nonsense	probably null
R8443:Orc3	UTSW	4	34,593,173 (GRCm38)	missense	probably damaging	1.00
R8670:Orc3	UTSW	4	34,572,529 (GRCm38)	missense	probably damaging	1.00
R8738:Orc3	UTSW	4	34,599,778 (GRCm38)	missense	possibly damaging	0.91
R8827:Orc3	UTSW	4	34,605,569 (GRCm38)	missense	probably benign	0.01
R9303:Orc3	UTSW	4	34,607,181 (GRCm38)	nonsense	probably null
R9305:Orc3	UTSW	4	34,607,181 (GRCm38)	nonsense	probably null
R9684:Orc3	UTSW	4	34,607,135 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGCGACGAAGGCCATACATA -3'
(R):5'- TTGAACTGAAAGTCAGCAAGTCAATGC -3'

Sequencing Primer
(F):5'- GACGAAGGCCATACATAACTTTAG -3'
(R):5'- CCATGCTGTTTGTCTCTATGTACAG -3'

Posted On

2014-03-28