Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Orc3'

219179

Institutional Source

Beutler Lab

Gene Symbol

Orc3

Ensembl Gene

ENSMUSG00000040044

Gene Name

origin recognition complex, subunit 3

Synonyms

Orc3l

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34570796-34614944 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34611049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029968] [ENSMUST00000048706] [ENSMUST00000108142] [ENSMUST00000140334] [ENSMUST00000148519]

AlphaFold

Q9JK30

Predicted Effect

probably null
Transcript: ENSMUST00000029968

SMART Domains

Protein: ENSMUSP00000029968
Gene: ENSMUSG00000028292

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1d	110	449	1e-97	PFAM
DALR_1	463	578	3.64e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000048706
AA Change: K25*

SMART Domains

Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: K25*

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 null
Transcript: ENSMUST00000108142
AA Change: K25*

SMART Domains

Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: K25*

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

noncoding transcript
Transcript: ENSMUST00000136563

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: ENSMUST00000142045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155133

Predicted Effect

probably null
Transcript: ENSMUST00000148519

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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 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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	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
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
R4814:Orc3	UTSW	4	34,572,450 (GRCm39)	splice site	probably benign
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'- TGGTACACTGAATCATCTCCAAC -3'
(R):5'- GTCTATCTCTTACTTAGAATGGGTCC -3'

Sequencing Primer
(F):5'- AGGTCCTGAGTTCAAATTCCAGC -3'
(R):5'- GAGCCTGAGATTTGAACTCATGACC -3'

Posted On

2014-08-25