Incidental Mutation 'R7013:Orc5'
ID 545119
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
MMRRC Submission 045114-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R7013 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 22691478-22755358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22738787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 158 (V158A)
Ref Sequence ENSEMBL: ENSMUSP00000120214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030872] [ENSMUST00000141263]
AlphaFold Q9WUV0
Predicted Effect probably benign
Transcript: ENSMUST00000030872
AA Change: V176A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: V176A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000141263
AA Change: V158A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: V158A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1537 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (47/47)
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,345 (GRCm39) I213V probably null Het
Abcc4 A T 14: 118,763,755 (GRCm39) C952S probably benign Het
Adhfe1 T C 1: 9,620,816 (GRCm39) probably benign Het
Apob T A 12: 8,060,080 (GRCm39) L2854* probably null Het
Arhgap5 T A 12: 52,565,109 (GRCm39) N693K probably benign Het
Arid5b A G 10: 67,933,649 (GRCm39) V508A probably damaging Het
Atl1 A G 12: 70,000,214 (GRCm39) E288G probably damaging Het
Bank1 A G 3: 135,806,270 (GRCm39) S455P possibly damaging Het
Ces1c A T 8: 93,857,392 (GRCm39) L63Q probably damaging Het
Crmp1 A T 5: 37,426,036 (GRCm39) probably null Het
Csnka2ip T C 16: 64,298,780 (GRCm39) D528G unknown Het
Dact2 T C 17: 14,423,796 (GRCm39) T66A probably benign Het
Dkk2 T C 3: 131,880,760 (GRCm39) L135P probably damaging Het
Drc3 A G 11: 60,278,129 (GRCm39) N381S probably benign Het
Dsg4 T C 18: 20,591,578 (GRCm39) V439A possibly damaging Het
Dysf C T 6: 84,114,340 (GRCm39) P1240S probably damaging Het
Esyt1 A T 10: 128,361,520 (GRCm39) V58E probably damaging Het
Exo1 G T 1: 175,721,338 (GRCm39) A326S probably damaging Het
Fam20b A G 1: 156,518,135 (GRCm39) S220P probably damaging Het
Fmo6 G A 1: 162,745,817 (GRCm39) T402I probably benign Het
Galnt10 A T 11: 57,656,410 (GRCm39) D198V probably benign Het
Gsap A T 5: 21,483,108 (GRCm39) E604D probably benign Het
Il20rb A G 9: 100,343,481 (GRCm39) Y258H probably benign Het
Impg1 A T 9: 80,285,776 (GRCm39) S409R probably damaging Het
Jak3 G T 8: 72,131,425 (GRCm39) V97F possibly damaging Het
Lbhd1 T C 19: 8,861,523 (GRCm39) S52P probably damaging Het
Lman2l A G 1: 36,482,599 (GRCm39) probably benign Het
Lnpep C A 17: 17,788,625 (GRCm39) M493I probably benign Het
Mpp4 T C 1: 59,188,774 (GRCm39) D132G probably damaging Het
Nlrp1a G A 11: 71,014,378 (GRCm39) R291W probably benign Het
Or1e23 G T 11: 73,407,247 (GRCm39) Y259* probably null Het
Or4a79 T A 2: 89,551,730 (GRCm39) I242F probably benign Het
Or4b13 C T 2: 90,082,441 (GRCm39) R297Q possibly damaging Het
Or4f15 G A 2: 111,814,308 (GRCm39) A37V probably benign Het
Or4n4b T A 14: 50,536,656 (GRCm39) I37F probably damaging Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pcdhga3 A G 18: 37,808,674 (GRCm39) N376D probably damaging Het
Ptprr T A 10: 116,072,659 (GRCm39) I207N probably damaging Het
Recql5 A G 11: 115,785,402 (GRCm39) V698A probably benign Het
Rnf212 A T 5: 108,877,826 (GRCm39) M222K probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Smap2 T C 4: 120,839,365 (GRCm39) K121E probably damaging Het
Syt11 A T 3: 88,655,296 (GRCm39) V335D possibly damaging Het
Terb1 A T 8: 105,215,222 (GRCm39) C251* probably null Het
Tmprss11d C A 5: 86,474,432 (GRCm39) R37L probably damaging Het
Ttbk2 T C 2: 120,576,265 (GRCm39) N904S possibly damaging Het
Vmn1r119 T A 7: 20,745,714 (GRCm39) I223F probably damaging Het
Vmn1r66 T C 7: 10,008,683 (GRCm39) R117G possibly damaging Het
Zfp106 T C 2: 120,362,113 (GRCm39) D1025G probably damaging Het
Other mutations in Orc5
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2375:Orc5 UTSW 5 22,751,550 (GRCm39) missense probably damaging 1.00
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
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'- TCCCTTCACAGTTGTAAAATGCAG -3'
(R):5'- AAATGGTTGAGCTCTCTGATTAGG -3'

Sequencing Primer
(F):5'- CAGTTGTAAAATGCAGAAATAGAAGC -3'
(R):5'- TTAAGCTTTGCTGAATTTAGTTGAAG -3'
Posted On 2019-05-13