Incidental Mutation 'R1481:Orc3'
ID 164356
Institutional Source Beutler Lab
Gene Symbol Orc3
Ensembl Gene ENSMUSG00000040044
Gene Name origin recognition complex, subunit 3
Synonyms Orc3l
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 34570796-34614944 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34607228 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 34 (E34V)
Ref Sequence ENSEMBL: ENSMUSP00000103777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048706] [ENSMUST00000108142] [ENSMUST00000140334]
AlphaFold Q9JK30
Predicted Effect possibly damaging
Transcript: ENSMUST00000048706
AA Change: E34V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: E34V

Pfam:ORC3_N 25 350 3e-130 PFAM
low complexity region 653 664 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108142
AA Change: E34V

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: E34V

Pfam:ORC3_N 24 350 7.7e-136 PFAM
low complexity region 652 663 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125218
Predicted Effect probably benign
Transcript: ENSMUST00000140334
SMART Domains Protein: ENSMUSP00000119335
Gene: ENSMUSG00000040044

Pfam:ORC3_N 2 278 1.4e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156987
Meta Mutation Damage Score 0.1917 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the neural cells exhibit reduced neuronal precursor proliferation and reduced radial glial cell. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,008,434 (GRCm38) V3365A probably damaging Het
Arhgef5 A G 6: 43,274,634 (GRCm38) H773R probably damaging Het
Bmp3 G A 5: 98,872,470 (GRCm38) V251M probably damaging Het
Ccdc175 C A 12: 72,101,948 (GRCm38) probably benign Het
Ccdc178 C T 18: 22,105,621 (GRCm38) G313D probably benign Het
Cd300ld2 T A 11: 115,012,633 (GRCm38) I129F probably benign Het
Cep170 T C 1: 176,782,385 (GRCm38) Q120R possibly damaging Het
Ckb T C 12: 111,671,262 (GRCm38) H145R probably benign Het
Cntnap5a T A 1: 116,117,663 (GRCm38) N336K probably damaging Het
Coil T A 11: 88,974,060 (GRCm38) C38S possibly damaging Het
Cps1 T C 1: 67,143,882 (GRCm38) V133A probably damaging Het
Cspg4 A G 9: 56,887,810 (GRCm38) E943G probably damaging Het
Cyp2c54 C T 19: 40,047,588 (GRCm38) D293N probably benign Het
Cyp2f2 T C 7: 27,121,877 (GRCm38) S72P probably benign Het
Dip2c G A 13: 9,551,866 (GRCm38) probably null Het
Dock6 T C 9: 21,820,622 (GRCm38) T1158A probably benign Het
Dscaml1 G A 9: 45,672,643 (GRCm38) V469I probably benign Het
Efcab14 A G 4: 115,756,517 (GRCm38) T221A probably benign Het
Ehbp1 T C 11: 22,006,782 (GRCm38) *1207W probably null Het
Eln T C 5: 134,706,572 (GRCm38) K786E probably damaging Het
Fyb C T 15: 6,619,647 (GRCm38) P385S probably benign Het
Galr1 A G 18: 82,405,741 (GRCm38) I137T possibly damaging Het
Gcm1 A T 9: 78,059,717 (GRCm38) K73* probably null Het
Gemin5 T C 11: 58,141,654 (GRCm38) N775D probably damaging Het
Gli3 C T 13: 15,613,850 (GRCm38) H147Y probably damaging Het
Gm10754 G T 10: 97,682,227 (GRCm38) probably benign Het
Gpr37 T C 6: 25,669,138 (GRCm38) D569G probably damaging Het
Grina T A 15: 76,249,089 (GRCm38) Y286N probably damaging Het
Gtf3c1 C A 7: 125,693,138 (GRCm38) probably null Het
Kcnc4 C T 3: 107,448,218 (GRCm38) V305M probably benign Het
Kntc1 T C 5: 123,778,275 (GRCm38) F724L probably benign Het
Kpnb1 T C 11: 97,178,310 (GRCm38) Y249C probably damaging Het
Krt6b T C 15: 101,678,374 (GRCm38) T269A probably benign Het
Lamc1 T C 1: 153,221,634 (GRCm38) K1555E probably damaging Het
Maneal T C 4: 124,861,857 (GRCm38) Y104C probably damaging Het
Map1b T C 13: 99,431,171 (GRCm38) T1681A unknown Het
Mettl17 T C 14: 51,890,703 (GRCm38) L272P probably benign Het
Mib2 T A 4: 155,656,999 (GRCm38) S357C probably benign Het
Mmp19 C A 10: 128,798,178 (GRCm38) T316K possibly damaging Het
Mroh9 C T 1: 163,026,509 (GRCm38) G774E probably damaging Het
Myh1 T C 11: 67,205,499 (GRCm38) probably benign Het
Ncor2 C A 5: 125,027,138 (GRCm38) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm38) T51S probably benign Het
Nsun3 A T 16: 62,735,369 (GRCm38) C265S probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Nutm2 T A 13: 50,469,481 (GRCm38) N71K probably damaging Het
Olfr498 C T 7: 108,465,960 (GRCm38) T212I probably benign Het
Olfr713 T G 7: 107,036,149 (GRCm38) L5R probably benign Het
Pcdhb13 T A 18: 37,442,836 (GRCm38) L89Q probably damaging Het
Polr3a A T 14: 24,452,548 (GRCm38) V1241E probably null Het
Prpf39 C T 12: 65,053,314 (GRCm38) P135S probably damaging Het
Psrc1 T C 3: 108,384,993 (GRCm38) V34A probably benign Het
Rab27a G A 9: 73,082,402 (GRCm38) V52M probably benign Het
Rassf9 A G 10: 102,546,034 (GRCm38) T424A probably benign Het
Ripor3 G T 2: 168,000,377 (GRCm38) R61S possibly damaging Het
Ryr3 C T 2: 112,636,522 (GRCm38) probably benign Het
Samd4b C T 7: 28,414,010 (GRCm38) G177R probably damaging Het
Setbp1 C T 18: 78,783,301 (GRCm38) V1366M probably benign Het
Smad1 G A 8: 79,343,730 (GRCm38) A393V probably benign Het
Tctn2 T C 5: 124,607,763 (GRCm38) noncoding transcript Het
Tmem45a A T 16: 56,811,602 (GRCm38) F218I possibly damaging Het
Tpte A T 8: 22,355,471 (GRCm38) R512S probably damaging Het
Trim37 T A 11: 87,129,759 (GRCm38) L22* probably null Het
Ttc6 A G 12: 57,737,130 (GRCm38) N1792D probably damaging Het
Ttn A G 2: 76,945,616 (GRCm38) M1694T probably damaging Het
Vmn1r181 T A 7: 23,984,712 (GRCm38) W201R probably damaging Het
Wdr74 C T 19: 8,738,228 (GRCm38) L198F possibly damaging Het
Zfp560 T C 9: 20,348,790 (GRCm38) T259A probably benign Het
Other mutations in Orc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Orc3 APN 4 34,595,096 (GRCm38) missense probably damaging 1.00
IGL03293:Orc3 APN 4 34,595,210 (GRCm38) missense probably damaging 0.96
IGL02991:Orc3 UTSW 4 34,593,083 (GRCm38) missense probably damaging 1.00
R0157:Orc3 UTSW 4 34,607,130 (GRCm38) critical splice donor site probably null
R0708:Orc3 UTSW 4 34,597,368 (GRCm38) missense probably damaging 1.00
R1331:Orc3 UTSW 4 34,599,748 (GRCm38) missense probably benign 0.01
R1755:Orc3 UTSW 4 34,575,114 (GRCm38) missense possibly damaging 0.67
R1886:Orc3 UTSW 4 34,584,829 (GRCm38) missense probably damaging 1.00
R2008:Orc3 UTSW 4 34,611,049 (GRCm38) splice site probably null
R2054:Orc3 UTSW 4 34,584,846 (GRCm38) missense probably damaging 0.97
R2307:Orc3 UTSW 4 34,586,503 (GRCm38) missense probably damaging 1.00
R3001:Orc3 UTSW 4 34,571,790 (GRCm38) missense probably benign 0.10
R3002:Orc3 UTSW 4 34,571,790 (GRCm38) missense probably benign 0.10
R3153:Orc3 UTSW 4 34,575,124 (GRCm38) missense probably damaging 0.99
R4044:Orc3 UTSW 4 34,587,055 (GRCm38) nonsense probably null
R4814:Orc3 UTSW 4 34,572,450 (GRCm38) splice site probably benign
R4825:Orc3 UTSW 4 34,571,774 (GRCm38) missense possibly damaging 0.95
R4939:Orc3 UTSW 4 34,593,126 (GRCm38) nonsense probably null
R6314:Orc3 UTSW 4 34,579,797 (GRCm38) missense possibly damaging 0.85
R6867:Orc3 UTSW 4 34,605,539 (GRCm38) missense probably damaging 1.00
R7227:Orc3 UTSW 4 34,572,542 (GRCm38) missense probably benign 0.00
R7417:Orc3 UTSW 4 34,595,136 (GRCm38) missense probably damaging 1.00
R7655:Orc3 UTSW 4 34,587,032 (GRCm38) nonsense probably null
R7656:Orc3 UTSW 4 34,587,032 (GRCm38) nonsense probably null
R7707:Orc3 UTSW 4 34,598,691 (GRCm38) nonsense probably null
R7856:Orc3 UTSW 4 34,585,647 (GRCm38) missense probably benign
R7967:Orc3 UTSW 4 34,598,645 (GRCm38) missense probably damaging 0.98
R8058:Orc3 UTSW 4 34,595,223 (GRCm38) nonsense probably null
R8443:Orc3 UTSW 4 34,593,173 (GRCm38) missense probably damaging 1.00
R8670:Orc3 UTSW 4 34,572,529 (GRCm38) missense probably damaging 1.00
R8738:Orc3 UTSW 4 34,599,778 (GRCm38) missense possibly damaging 0.91
R8827:Orc3 UTSW 4 34,605,569 (GRCm38) missense probably benign 0.01
R9303:Orc3 UTSW 4 34,607,181 (GRCm38) nonsense probably null
R9305:Orc3 UTSW 4 34,607,181 (GRCm38) nonsense probably null
R9684:Orc3 UTSW 4 34,607,135 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-28