Incidental Mutation 'R6330:Orc2'
| ID |
510840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc2
|
| Ensembl Gene |
ENSMUSG00000026037 |
| Gene Name |
origin recognition complex, subunit 2 |
| Synonyms |
Orc2l |
| MMRRC Submission |
044484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58501930-58544268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 58539493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 49
(V49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027198]
[ENSMUST00000114325]
[ENSMUST00000190695]
[ENSMUST00000191206]
|
| AlphaFold |
Q60862 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027198
AA Change: V49L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: V49L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
Pfam:ORC2
|
254 |
563 |
2.5e-110 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114325
|
| SMART Domains |
Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
153 |
N/A |
INTRINSIC |
|
Pfam:ORC2
|
206 |
517 |
1.2e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191206
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (46/47) |
| 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. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
| Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
| Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
| Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
| Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
| Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
| Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
| Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
| Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
| Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
| Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
| Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
| Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
|
| Other mutations in Orc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Orc2
|
APN |
1 |
58,532,875 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00549:Orc2
|
APN |
1 |
58,520,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01343:Orc2
|
APN |
1 |
58,532,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01357:Orc2
|
APN |
1 |
58,536,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01357:Orc2
|
APN |
1 |
58,536,551 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02167:Orc2
|
APN |
1 |
58,522,798 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02343:Orc2
|
APN |
1 |
58,508,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02548:Orc2
|
APN |
1 |
58,505,281 (GRCm39) |
unclassified |
probably benign |
|
|
R0557:Orc2
|
UTSW |
1 |
58,508,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Orc2
|
UTSW |
1 |
58,520,317 (GRCm39) |
unclassified |
probably benign |
|
|
R1886:Orc2
|
UTSW |
1 |
58,510,247 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2065:Orc2
|
UTSW |
1 |
58,508,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Orc2
|
UTSW |
1 |
58,520,151 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4389:Orc2
|
UTSW |
1 |
58,514,020 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4393:Orc2
|
UTSW |
1 |
58,506,809 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4613:Orc2
|
UTSW |
1 |
58,539,468 (GRCm39) |
nonsense |
probably null |
|
|
R5183:Orc2
|
UTSW |
1 |
58,513,977 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5652:Orc2
|
UTSW |
1 |
58,505,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5793:Orc2
|
UTSW |
1 |
58,536,547 (GRCm39) |
start codon destroyed |
probably null |
0.27 |
|
R5997:Orc2
|
UTSW |
1 |
58,511,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Orc2
|
UTSW |
1 |
58,506,851 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6656:Orc2
|
UTSW |
1 |
58,532,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6923:Orc2
|
UTSW |
1 |
58,539,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6934:Orc2
|
UTSW |
1 |
58,539,523 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7354:Orc2
|
UTSW |
1 |
58,508,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7718:Orc2
|
UTSW |
1 |
58,519,476 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7950:Orc2
|
UTSW |
1 |
58,506,827 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8820:Orc2
|
UTSW |
1 |
58,515,639 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8858:Orc2
|
UTSW |
1 |
58,532,857 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8956:Orc2
|
UTSW |
1 |
58,505,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8978:Orc2
|
UTSW |
1 |
58,511,499 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9126:Orc2
|
UTSW |
1 |
58,515,628 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9210:Orc2
|
UTSW |
1 |
58,515,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Orc2
|
UTSW |
1 |
58,515,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Orc2
|
UTSW |
1 |
58,506,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Orc2
|
UTSW |
1 |
58,536,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Orc2
|
UTSW |
1 |
58,515,675 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTAGATTCGACACACAACTGTAC -3'
(R):5'- CTGACCCTGCGTTTAGTGTG -3'
Sequencing Primer
(F):5'- TTCGACACACAACTGTACTATATGAC -3'
(R):5'- AGGACAACTCTCTGGAATTGGTTCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation