Incidental Mutation 'R1331:Orc3'
ID 156181
Institutional Source Beutler Lab
Gene Symbol Orc3
Ensembl Gene ENSMUSG00000040044
Gene Name origin recognition complex, subunit 3
Synonyms Orc3l
MMRRC Submission 039396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1331 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 34570796-34614944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34599748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 77 (N77T)
Ref Sequence ENSEMBL: ENSMUSP00000119335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048706] [ENSMUST00000108142] [ENSMUST00000140334]
AlphaFold Q9JK30
Predicted Effect probably benign
Transcript: ENSMUST00000048706
AA Change: N135T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000048319
Gene: ENSMUSG00000040044
AA Change: N135T

DomainStartEndE-ValueType
Pfam:ORC3_N 25 350 3e-130 PFAM
low complexity region 653 664 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108142
AA Change: N135T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103777
Gene: ENSMUSG00000040044
AA Change: N135T

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000132918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133107
Predicted Effect probably benign
Transcript: ENSMUST00000140334
AA Change: N77T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119335
Gene: ENSMUSG00000040044
AA Change: N77T

DomainStartEndE-ValueType
Pfam:ORC3_N 2 278 1.4e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156987
Meta Mutation Damage Score 0.1054 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 93.0%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,773,202 (GRCm39) probably null Het
Acat1 T C 9: 53,496,183 (GRCm39) D318G probably benign Het
Ahdc1 T C 4: 132,791,002 (GRCm39) F748L probably benign Het
Alkbh8 T A 9: 3,347,916 (GRCm39) probably null Het
Arhgef26 A G 3: 62,247,449 (GRCm39) T178A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc180 T C 4: 45,909,359 (GRCm39) V509A possibly damaging Het
Ccdc39 T C 3: 33,869,634 (GRCm39) E731G probably benign Het
Cenpf A G 1: 189,374,998 (GRCm39) V2931A probably damaging Het
Cobl A T 11: 12,325,853 (GRCm39) N207K probably damaging Het
Col14a1 T A 15: 55,273,584 (GRCm39) W718R unknown Het
Dnah7a A G 1: 53,507,828 (GRCm39) I3081T probably damaging Het
Dync1h1 T C 12: 110,615,698 (GRCm39) V2977A probably damaging Het
Ephb4 A G 5: 137,364,796 (GRCm39) probably benign Het
Eri3 T C 4: 117,422,104 (GRCm39) probably benign Het
Fbxo24 A G 5: 137,617,891 (GRCm39) V291A probably damaging Het
Glra1 A C 11: 55,405,896 (GRCm39) S282A probably benign Het
Gm7589 C A 9: 59,053,325 (GRCm39) noncoding transcript Het
H6pd T C 4: 150,066,872 (GRCm39) N505D probably benign Het
Hdlbp T A 1: 93,348,853 (GRCm39) N566Y probably damaging Het
Hsp90aa1 C A 12: 110,659,254 (GRCm39) K514N probably damaging Het
Impdh1 A T 6: 29,206,477 (GRCm39) V120D probably damaging Het
Katnip A G 7: 125,465,627 (GRCm39) T1360A probably benign Het
Loxhd1 C T 18: 77,490,632 (GRCm39) P1411S possibly damaging Het
Lpl A G 8: 69,349,281 (GRCm39) E269G probably damaging Het
Map1a G T 2: 121,136,701 (GRCm39) E2268* probably null Het
Mark1 T C 1: 184,660,245 (GRCm39) E137G probably damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Mogat2 T C 7: 98,872,722 (GRCm39) Y154C possibly damaging Het
Myo18a C G 11: 77,732,405 (GRCm39) I859M probably benign Het
Myo7a A G 7: 97,756,215 (GRCm39) V39A probably benign Het
Nedd4 T A 9: 72,584,668 (GRCm39) I123N probably damaging Het
Obscn A G 11: 58,977,754 (GRCm39) V1966A probably benign Het
Or7g33 T C 9: 19,448,842 (GRCm39) N128S probably benign Het
Penk A G 4: 4,134,287 (GRCm39) M120T probably benign Het
Phf7 G A 14: 30,962,362 (GRCm39) Q148* probably null Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pkhd1l1 C T 15: 44,452,993 (GRCm39) R3973C probably damaging Het
Polq C T 16: 36,862,109 (GRCm39) T264M probably damaging Het
Ptprb A T 10: 116,203,437 (GRCm39) T2070S probably damaging Het
Ralgapb T C 2: 158,272,453 (GRCm39) F169S probably damaging Het
Rapgef5 G T 12: 117,685,084 (GRCm39) A278S probably benign Het
Ripor2 G T 13: 24,861,824 (GRCm39) E203* probably null Het
Setx T C 2: 29,069,698 (GRCm39) L2501P probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,276,689 (GRCm39) V56D probably damaging Het
Slc45a4 C T 15: 73,458,596 (GRCm39) D326N probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat4 T A 1: 52,053,086 (GRCm39) V89D probably benign Het
Tek T A 4: 94,627,943 (GRCm39) probably benign Het
Tert T A 13: 73,796,473 (GRCm39) F1068Y probably damaging Het
Trim33 T A 3: 103,217,670 (GRCm39) I205K probably damaging Het
Vmn1r212 A T 13: 23,067,562 (GRCm39) I257K probably benign Het
Other mutations in Orc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Orc3 APN 4 34,595,096 (GRCm39) missense probably damaging 1.00
IGL03293:Orc3 APN 4 34,595,210 (GRCm39) missense probably damaging 0.96
IGL02991:Orc3 UTSW 4 34,593,083 (GRCm39) missense probably damaging 1.00
R0157:Orc3 UTSW 4 34,607,130 (GRCm39) critical splice donor site probably null
R0708:Orc3 UTSW 4 34,597,368 (GRCm39) missense probably damaging 1.00
R1481:Orc3 UTSW 4 34,607,228 (GRCm39) missense possibly damaging 0.50
R1755:Orc3 UTSW 4 34,575,114 (GRCm39) missense possibly damaging 0.67
R1886:Orc3 UTSW 4 34,584,829 (GRCm39) missense probably damaging 1.00
R2008:Orc3 UTSW 4 34,611,049 (GRCm39) splice site probably null
R2054:Orc3 UTSW 4 34,584,846 (GRCm39) missense probably damaging 0.97
R2307:Orc3 UTSW 4 34,586,503 (GRCm39) missense probably damaging 1.00
R3001:Orc3 UTSW 4 34,571,790 (GRCm39) missense probably benign 0.10
R3002:Orc3 UTSW 4 34,571,790 (GRCm39) missense probably benign 0.10
R3153:Orc3 UTSW 4 34,575,124 (GRCm39) missense probably damaging 0.99
R4044:Orc3 UTSW 4 34,587,055 (GRCm39) nonsense probably null
R4814:Orc3 UTSW 4 34,572,450 (GRCm39) splice site probably benign
R4825:Orc3 UTSW 4 34,571,774 (GRCm39) missense possibly damaging 0.95
R4939:Orc3 UTSW 4 34,593,126 (GRCm39) nonsense probably null
R6314:Orc3 UTSW 4 34,579,797 (GRCm39) missense possibly damaging 0.85
R6867:Orc3 UTSW 4 34,605,539 (GRCm39) missense probably damaging 1.00
R7227:Orc3 UTSW 4 34,572,542 (GRCm39) missense probably benign 0.00
R7417:Orc3 UTSW 4 34,595,136 (GRCm39) missense probably damaging 1.00
R7655:Orc3 UTSW 4 34,587,032 (GRCm39) nonsense probably null
R7656:Orc3 UTSW 4 34,587,032 (GRCm39) nonsense probably null
R7707:Orc3 UTSW 4 34,598,691 (GRCm39) nonsense probably null
R7856:Orc3 UTSW 4 34,585,647 (GRCm39) missense probably benign
R7967:Orc3 UTSW 4 34,598,645 (GRCm39) missense probably damaging 0.98
R8058:Orc3 UTSW 4 34,595,223 (GRCm39) nonsense probably null
R8443:Orc3 UTSW 4 34,593,173 (GRCm39) missense probably damaging 1.00
R8670:Orc3 UTSW 4 34,572,529 (GRCm39) missense probably damaging 1.00
R8738:Orc3 UTSW 4 34,599,778 (GRCm39) missense possibly damaging 0.91
R8827:Orc3 UTSW 4 34,605,569 (GRCm39) missense probably benign 0.01
R9303:Orc3 UTSW 4 34,607,181 (GRCm39) nonsense probably null
R9305:Orc3 UTSW 4 34,607,181 (GRCm39) nonsense probably null
R9684:Orc3 UTSW 4 34,607,135 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAACAAAGCTGAGTGTGACCG -3'
(R):5'- TTTAGATCCCCGACTGAGAGGAGC -3'

Sequencing Primer
(F):5'- TGCACAGCTTATACTATGACGGC -3'
(R):5'- CCAGGTGTGGTGCAGTC -3'
Posted On 2014-02-11