Incidental Mutation 'R4626:Orc5'
ID 348767
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 041891-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R4626 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 22691478-22755358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22753003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 10 (F10L)
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: F28L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: F28L

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 noncoding transcript
Transcript: ENSMUST00000135906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138248
Predicted Effect probably benign
Transcript: ENSMUST00000141263
AA Change: F10L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: F10L

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
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
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Arhgap39 A C 15: 76,621,837 (GRCm39) F255V possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Atxn1 T C 13: 45,720,575 (GRCm39) Y440C probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Snx10 A G 6: 51,565,270 (GRCm39) D129G probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Ugt2b36 A C 5: 87,239,947 (GRCm39) F146C probably damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L 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
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'- GCACTGGGTGGTGAAATAAATTGTC -3'
(R):5'- AGGGGACACACGTTGAGTTG -3'

Sequencing Primer
(F):5'- GGTGGTGAAATAAATTGTCTCGATTC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'
Posted On 2015-10-08