Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Orc3'

257314

Institutional Source

Beutler Lab

Gene Symbol

Orc3

Ensembl Gene

ENSMUSG00000040044

Gene Name

origin recognition complex, subunit 3

Synonyms

Orc3l

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34570796-34614944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34571790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 660 (T660A)

Ref Sequence

ENSEMBL: ENSMUSP00000103777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048706] [ENSMUST00000084299] [ENSMUST00000108142]

AlphaFold

Q9JK30

Predicted Effect

probably benign
Transcript: ENSMUST00000048706
AA Change: T661A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: T661A

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: ENSMUST00000084299

SMART Domains

Protein: ENSMUSP00000081322
Gene: ENSMUSG00000028291

Domain	Start	End	E-Value	Type
SCOP:d1gkub1	28	55	3e-3	SMART
low complexity region	119	132	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108142
AA Change: T660A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: T660A

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

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt71	C	T	15: 101,648,906 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,414,149 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Xpo7	A	G	14: 70,930,085 (GRCm39)		probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably 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
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'- AGGCCCTTTGTTTAAGCAAATGTTC -3'
(R):5'- GGGAACAGGGATTTCTCTGC -3'

Sequencing Primer
(F):5'- CTTTGTTTTAAGCAAATGACCTAGCC -3'
(R):5'- TCCTCTAACACAAATGTAGAGTCAG -3'

Posted On

2015-01-11