Incidental Mutation 'R7718:Orc2'
ID 595008
Institutional Source Beutler Lab
Gene Symbol Orc2
Ensembl Gene ENSMUSG00000026037
Gene Name origin recognition complex, subunit 2
Synonyms Orc2l
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58501930-58544268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58519476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 246 (H246Q)
Ref Sequence ENSEMBL: ENSMUSP00000027198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027198] [ENSMUST00000114325] [ENSMUST00000114337] [ENSMUST00000190695]
AlphaFold Q60862
Predicted Effect possibly damaging
Transcript: ENSMUST00000027198
AA Change: H246Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
AA Change: H246Q

DomainStartEndE-ValueType
low complexity region 176 201 N/A INTRINSIC
Pfam:ORC2 254 563 2.5e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114325
AA Change: H198Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109964
Gene: ENSMUSG00000026037
AA Change: H198Q

DomainStartEndE-ValueType
low complexity region 128 153 N/A INTRINSIC
Pfam:ORC2 206 517 1.2e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114337
SMART Domains Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036

DomainStartEndE-ValueType
Pfam:NIF3 31 324 4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190695
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Orc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6330:Orc2 UTSW 1 58,539,493 (GRCm39) missense probably benign
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
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'- AAACATTTAATGAGCACAGCGC -3'
(R):5'- TCCTGTCAGTAACGTTTTGTAGTCAG -3'

Sequencing Primer
(F):5'- CACAGCGCATTAACGTGTG -3'
(R):5'- CAGACATGTTGATACACTGTTGTTCC -3'
Posted On 2019-11-12