Mutagenetix > Incidental Mutation

Incidental Mutation 'R7656:Orc3'

591182

Institutional Source

Beutler Lab

Gene Symbol

Orc3

Ensembl Gene

ENSMUSG00000040044

Gene Name

origin recognition complex, subunit 3

Synonyms

Orc3l

MMRRC Submission

045732-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34570796-34614944 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 34587032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 352 (C352*)

Ref Sequence

ENSEMBL: ENSMUSP00000048319 (fasta)

Gene Model

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

AlphaFold

Q9JK30

Predicted Effect

probably null
Transcript: ENSMUST00000048706
AA Change: C352*

SMART Domains

Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: C352*

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: C352*

SMART Domains

Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: C352*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Efhc1	A	G	1: 21,031,281 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Ltf	A	T	9: 110,853,462 (GRCm39)	K18*	probably null	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,597,197 (GRCm39)	I181F	probably damaging	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Plekhd1	A	G	12: 80,768,934 (GRCm39)		probably null	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Prox1	A	G	1: 189,894,418 (GRCm39)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,304,096 (GRCm39)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Rtl1	T	C	12: 109,557,442 (GRCm39)	I1466V	unknown	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Thbd	A	G	2: 148,249,340 (GRCm39)	L176P	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	probably benign	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
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
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'- GGTTCTATACTGCAAAATGAAAGGC -3'
(R):5'- GGTCCATAGAACTGCAGCCTTG -3'

Sequencing Primer
(F):5'- ACAACTGAAGCCAGAAGT -3'
(R):5'- CCACATGTGCAGTGCCTTAAAGG -3'

Posted On

2019-11-12