Incidental Mutation 'R2375:Orc5'
| ID |
248255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Orc5
|
| Ensembl Gene |
ENSMUSG00000029012 |
| Gene Name |
origin recognition complex, subunit 5 |
| Synonyms |
mouse origin recognition complex 5, Orc5l, MmORC5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R2375 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
22691478-22755358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22751550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 71
(L71P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030872]
[ENSMUST00000141263]
|
| AlphaFold |
Q9WUV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030872
AA Change: L71P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: L71P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_16
|
7 |
155 |
2.4e-15 |
PFAM |
|
Pfam:AAA_22
|
28 |
160 |
2.9e-9 |
PFAM |
|
Pfam:ORC5_C
|
177 |
431 |
5.1e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138248
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141263
AA Change: L53P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: L53P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_16
|
3 |
137 |
2.6e-9 |
PFAM |
|
Pfam:AAA_22
|
11 |
144 |
1.1e-9 |
PFAM |
|
Pfam:ORC5_C
|
159 |
312 |
2.7e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181764
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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 subunit 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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Arhgef7 |
A |
G |
8: 11,864,995 (GRCm39) |
N369S |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,257,019 (GRCm39) |
M1312I |
probably benign |
Het |
| Fbn2 |
A |
C |
18: 58,169,038 (GRCm39) |
I2247S |
probably damaging |
Het |
| Gtf2ird2 |
T |
A |
5: 134,245,977 (GRCm39) |
L745Q |
probably benign |
Het |
| Lrr1 |
A |
G |
12: 69,221,697 (GRCm39) |
T280A |
probably benign |
Het |
| Mpig6b |
C |
T |
17: 35,283,359 (GRCm39) |
M226I |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,541,159 (GRCm39) |
D12G |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,265,985 (GRCm39) |
|
probably null |
Het |
| Or6c1 |
A |
G |
10: 129,518,032 (GRCm39) |
F192S |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,616,818 (GRCm39) |
S364P |
probably benign |
Het |
| Ramp3 |
G |
T |
11: 6,626,643 (GRCm39) |
V117L |
probably benign |
Het |
| Rpap1 |
C |
A |
2: 119,600,888 (GRCm39) |
W836L |
possibly damaging |
Het |
| Syt13 |
G |
A |
2: 92,776,496 (GRCm39) |
G261D |
probably benign |
Het |
| Taf6 |
A |
T |
5: 138,180,463 (GRCm39) |
Y300* |
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,337,361 (GRCm39) |
S1219G |
probably damaging |
Het |
| Tmco3 |
T |
C |
8: 13,342,059 (GRCm39) |
F111S |
possibly damaging |
Het |
| Upk1b |
C |
T |
16: 38,607,490 (GRCm39) |
G79E |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,676,703 (GRCm39) |
V773M |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,181,206 (GRCm39) |
T355A |
probably benign |
Het |
|
| Other mutations in Orc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Orc5
|
APN |
5 |
22,728,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00488:Orc5
|
APN |
5 |
22,721,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01915:Orc5
|
APN |
5 |
22,727,381 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02385:Orc5
|
APN |
5 |
22,731,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Orc5
|
APN |
5 |
22,734,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Orc5
|
APN |
5 |
22,721,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0372:Orc5
|
UTSW |
5 |
22,738,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0446:Orc5
|
UTSW |
5 |
22,751,455 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2060:Orc5
|
UTSW |
5 |
22,721,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2144:Orc5
|
UTSW |
5 |
22,752,925 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3875:Orc5
|
UTSW |
5 |
22,742,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4620:Orc5
|
UTSW |
5 |
22,734,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4626:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4627:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4629:Orc5
|
UTSW |
5 |
22,753,003 (GRCm39) |
missense |
probably benign |
|
|
R4664:Orc5
|
UTSW |
5 |
22,751,520 (GRCm39) |
missense |
probably benign |
|
|
R5751:Orc5
|
UTSW |
5 |
22,704,969 (GRCm39) |
splice site |
probably null |
|
|
R5758:Orc5
|
UTSW |
5 |
22,734,256 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7013:Orc5
|
UTSW |
5 |
22,738,787 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7326:Orc5
|
UTSW |
5 |
22,728,582 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7579:Orc5
|
UTSW |
5 |
22,755,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7794:Orc5
|
UTSW |
5 |
22,738,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9186:Orc5
|
UTSW |
5 |
22,752,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTGTATCTACTGCAGTTTTC -3'
(R):5'- CACTTTACATGGTCAGGCTCTG -3'
Sequencing Primer
(F):5'- TGTTCAGCACTGGTCACT -3'
(R):5'- GTCAGGCTCTGGGGCAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation