Incidental Mutation 'R0446:Orc5'
ID 39361
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 038647-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R0446 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 22691478-22755358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22751455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 85 (V85I)
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: V103I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030872
Gene: ENSMUSG00000029012
AA Change: V103I

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: V85I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120214
Gene: ENSMUSG00000029012
AA Change: V85I

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: ENSMUST00000181764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195898
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,971,766 (GRCm39) T42A probably benign Het
Actr3b T A 5: 26,036,730 (GRCm39) I181K probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
B3galt4 T C 17: 34,169,992 (GRCm39) E82G probably benign Het
Bag1 G A 4: 40,936,609 (GRCm39) T349I probably benign Het
Brip1 A T 11: 86,048,427 (GRCm39) L305Q probably damaging Het
Cdipt A G 7: 126,577,436 (GRCm39) T61A probably damaging Het
Cmya5 T A 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cog7 T C 7: 121,536,295 (GRCm39) D515G probably benign Het
Cpsf4 T A 5: 145,114,054 (GRCm39) L171Q probably damaging Het
Cstpp1 G A 2: 91,135,109 (GRCm39) T20I possibly damaging Het
Cuzd1 A T 7: 130,918,009 (GRCm39) probably null Het
Dapk1 T A 13: 60,873,101 (GRCm39) probably null Het
Diaph1 A G 18: 37,986,643 (GRCm39) V1114A possibly damaging Het
Emx2 A T 19: 59,452,348 (GRCm39) K211* probably null Het
Fam170a T A 18: 50,413,699 (GRCm39) C55S possibly damaging Het
Fbxw26 A G 9: 109,572,788 (GRCm39) S119P probably benign Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Fryl G A 5: 73,254,760 (GRCm39) T894M possibly damaging Het
Gad1-ps C A 10: 99,281,383 (GRCm39) noncoding transcript Het
Gss T C 2: 155,409,665 (GRCm39) E257G probably benign Het
Klhdc1 A C 12: 69,330,082 (GRCm39) S404R probably benign Het
Kmt2e T A 5: 23,702,532 (GRCm39) probably null Het
Krt20 G A 11: 99,328,602 (GRCm39) Q108* probably null Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lyst T A 13: 13,812,633 (GRCm39) M1015K probably benign Het
Mdm1 T G 10: 117,987,961 (GRCm39) S290A probably benign Het
Mkln1 T A 6: 31,426,439 (GRCm39) F238I probably damaging Het
Mrgprb3 A G 7: 48,292,984 (GRCm39) V189A probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neurod6 C T 6: 55,656,614 (GRCm39) E8K probably benign Het
Nlrp12 T C 7: 3,282,659 (GRCm39) I747V probably benign Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Obscn A T 11: 58,886,238 (GRCm39) probably benign Het
Or10d3 A T 9: 39,461,747 (GRCm39) I140N probably damaging Het
Or5p57 A T 7: 107,665,932 (GRCm39) Y24* probably null Het
Or5w20 T C 2: 87,727,199 (GRCm39) Y219H possibly damaging Het
Or6ae1 A T 7: 139,742,384 (GRCm39) S160T probably damaging Het
Or6z5 T C 7: 6,478,024 (GRCm39) V305A probably benign Het
Or8b53 G T 9: 38,667,114 (GRCm39) L43F probably damaging Het
Pccb T C 9: 100,864,850 (GRCm39) D468G probably damaging Het
Pdzd2 A T 15: 12,375,110 (GRCm39) V1675E probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pltp A T 2: 164,696,320 (GRCm39) N97K probably damaging Het
Polr1a T C 6: 71,927,648 (GRCm39) probably null Het
Prss42 G A 9: 110,628,341 (GRCm39) V162I possibly damaging Het
Rbfox2 A T 15: 76,983,455 (GRCm39) Y269N probably damaging Het
Rftn2 A T 1: 55,253,354 (GRCm39) I83K probably damaging Het
S1pr4 A T 10: 81,334,823 (GRCm39) I217N probably damaging Het
Slc23a2 T C 2: 131,920,353 (GRCm39) K184R probably benign Het
Slc6a19 T C 13: 73,839,814 (GRCm39) N156S probably benign Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tbc1d32 T A 10: 56,068,994 (GRCm39) H358L possibly damaging Het
Tex55 G A 16: 38,649,064 (GRCm39) T15I probably benign Het
Tigit G T 16: 43,482,634 (GRCm39) N33K probably damaging Het
Tmem25 T C 9: 44,707,878 (GRCm39) Y139C probably damaging Het
Trmt13 G A 3: 116,376,275 (GRCm39) T372M probably damaging Het
Ubr2 A T 17: 47,294,224 (GRCm39) M303K probably damaging Het
Usp34 A G 11: 23,417,207 (GRCm39) E2952G probably damaging Het
Zan T A 5: 137,389,920 (GRCm39) I4851F unknown Het
Zfand4 C T 6: 116,265,015 (GRCm39) T160I probably benign Het
Zfp1005 A G 2: 150,109,993 (GRCm39) T228A possibly 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
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
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'- TGTTTCGTACTTGGTCCCAACGATG -3'
(R):5'- AGCAGACACTGCACTGTGTATGTTC -3'

Sequencing Primer
(F):5'- AGTACTTGGCATATCATGGCTACC -3'
(R):5'- ACTGCACTGTGTATGTTCTGTTTAC -3'
Posted On 2013-05-23