Incidental Mutation 'R7303:Mcm2'
ID 567097
Institutional Source Beutler Lab
Gene Symbol Mcm2
Ensembl Gene ENSMUSG00000002870
Gene Name minichromosome maintenance complex component 2
Synonyms BM28, CDCL1, Mcmd2
MMRRC Submission 045364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7303 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 88860456-88875762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88864928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 516 (D516G)
Ref Sequence ENSEMBL: ENSMUSP00000061923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058011] [ENSMUST00000205165]
AlphaFold P97310
Predicted Effect probably damaging
Transcript: ENSMUST00000058011
AA Change: D516G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: D516G

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:MCM2_N 50 182 3.5e-20 PFAM
MCM 290 803 N/A SMART
Blast:MCM 816 891 3e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000205165
SMART Domains Protein: ENSMUSP00000145295
Gene: ENSMUSG00000002870

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for non functional alleles at this locus die prematurely. There is an increased tumor incidence and abnormalities in a variety of systems in mice as they become moribund. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T G 17: 24,617,495 (GRCm39) L1064R possibly damaging Het
Abca7 A T 10: 79,850,822 (GRCm39) D2051V probably benign Het
Abcb5 T A 12: 118,875,295 (GRCm39) I626F probably damaging Het
Abcg5 A G 17: 84,977,774 (GRCm39) S333P probably damaging Het
Abl2 T C 1: 156,468,820 (GRCm39) S695P probably benign Het
Aen C T 7: 78,552,204 (GRCm39) P55S possibly damaging Het
Afg3l1 G T 8: 124,228,008 (GRCm39) A598S probably damaging Het
Aldh16a1 A T 7: 44,797,328 (GRCm39) L160Q probably damaging Het
Ang A T 14: 51,338,973 (GRCm39) H38L probably benign Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Aox1 A T 1: 58,373,924 (GRCm39) K862* probably null Het
Brme1 G C 8: 84,887,862 (GRCm39) G71A probably benign Het
Cad T C 5: 31,217,557 (GRCm39) probably null Het
Cc2d2b A T 19: 40,797,438 (GRCm39) Y740F unknown Het
Ccdc182 T C 11: 88,185,042 (GRCm39) Y41H probably benign Het
Chd9 A G 8: 91,778,532 (GRCm39) R2848G unknown Het
Chrna6 A T 8: 27,897,019 (GRCm39) L286* probably null Het
Cimap1d G A 10: 79,478,525 (GRCm39) P80S probably benign Het
Cracr2b A G 7: 141,043,115 (GRCm39) probably benign Het
Fam184b C T 5: 45,699,568 (GRCm39) probably null Het
Flnc T C 6: 29,460,849 (GRCm39) S2647P probably benign Het
Ftsj3 T C 11: 106,145,506 (GRCm39) D76G probably damaging Het
Fxyd1 T A 7: 30,753,743 (GRCm39) M17L probably benign Het
Golim4 G A 3: 75,785,360 (GRCm39) S677L probably damaging Het
Gpr149 A G 3: 62,502,491 (GRCm39) V455A possibly damaging Het
H2-Q1 C A 17: 35,540,312 (GRCm39) S132R probably benign Het
H2-Q7 A G 17: 35,659,037 (GRCm39) I163V probably benign Het
Herc1 A T 9: 66,358,098 (GRCm39) D2393V possibly damaging Het
Hmgb2 A G 8: 57,965,762 (GRCm39) K44E possibly damaging Het
Itgad A G 7: 127,789,351 (GRCm39) D605G probably benign Het
Kbtbd12 G T 6: 88,591,094 (GRCm39) F16L unknown Het
Klhl23 T C 2: 69,655,045 (GRCm39) I305T probably benign Het
Lrguk A T 6: 34,006,411 (GRCm39) N7I probably benign Het
Lrp5 A G 19: 3,641,774 (GRCm39) L1396P probably damaging Het
Mapkapk5 T C 5: 121,678,637 (GRCm39) E13G probably benign Het
Mark3 T C 12: 111,621,970 (GRCm39) V704A probably damaging Het
Mast2 A G 4: 116,165,508 (GRCm39) S1303P possibly damaging Het
Mon2 A T 10: 122,874,364 (GRCm39) probably null Het
Mrc2 T A 11: 105,216,629 (GRCm39) N139K probably damaging Het
Myh14 C T 7: 44,261,125 (GRCm39) E1789K probably damaging Het
Myh7b T A 2: 155,460,660 (GRCm39) L271Q probably damaging Het
Oog2 A T 4: 143,921,912 (GRCm39) H274L probably benign Het
Oosp1 A C 19: 11,645,774 (GRCm39) S121R probably benign Het
Or13a28 T C 7: 140,218,267 (GRCm39) S218P probably damaging Het
Or8k3b A G 2: 86,521,166 (GRCm39) V51A probably benign Het
Pepd T C 7: 34,721,197 (GRCm39) probably null Het
Pik3c2a A C 7: 116,005,178 (GRCm39) S363R probably benign Het
Polr2b T C 5: 77,468,868 (GRCm39) Y215H probably benign Het
Ppcdc A T 9: 57,321,958 (GRCm39) V194E probably benign Het
Rabgap1l A C 1: 160,509,667 (GRCm39) I470S probably benign Het
Scgb1b3 G A 7: 31,075,383 (GRCm39) A78T probably benign Het
Slc9a5 T A 8: 106,083,345 (GRCm39) L368Q probably damaging Het
Spef2 T A 15: 9,647,576 (GRCm39) I944F possibly damaging Het
Syne1 T A 10: 5,206,805 (GRCm39) H3461L probably benign Het
Tas2r134 A G 2: 51,518,145 (GRCm39) Y208C probably benign Het
Tasor A G 14: 27,193,809 (GRCm39) E1003G probably damaging Het
Tm9sf3 G A 19: 41,227,198 (GRCm39) S291F probably damaging Het
Tra2a G A 6: 49,227,921 (GRCm39) T69I unknown Het
Ube2q1 T A 3: 89,683,898 (GRCm39) L171Q possibly damaging Het
Ufd1 A G 16: 18,636,715 (GRCm39) T78A probably damaging Het
Vmn1r13 T C 6: 57,187,587 (GRCm39) S249P probably damaging Het
Wdr91 G A 6: 34,861,258 (GRCm39) S648L probably benign Het
Zfp51 T A 17: 21,684,058 (GRCm39) N224K probably benign Het
Other mutations in Mcm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Mcm2 APN 6 88,870,383 (GRCm39) missense probably benign 0.04
IGL01082:Mcm2 APN 6 88,864,859 (GRCm39) missense probably benign 0.05
IGL01451:Mcm2 APN 6 88,868,948 (GRCm39) splice site probably benign
IGL01534:Mcm2 APN 6 88,864,700 (GRCm39) critical splice donor site probably null
IGL01670:Mcm2 APN 6 88,864,614 (GRCm39) unclassified probably benign
IGL01724:Mcm2 APN 6 88,863,044 (GRCm39) missense probably damaging 1.00
IGL01936:Mcm2 APN 6 88,868,708 (GRCm39) missense probably damaging 1.00
IGL02082:Mcm2 APN 6 88,865,218 (GRCm39) nonsense probably null
dander UTSW 6 88,864,786 (GRCm39) missense possibly damaging 0.53
spores UTSW 6 88,874,432 (GRCm39) missense probably benign
R0254:Mcm2 UTSW 6 88,860,998 (GRCm39) missense probably damaging 0.99
R1673:Mcm2 UTSW 6 88,869,060 (GRCm39) missense probably benign 0.12
R1740:Mcm2 UTSW 6 88,861,026 (GRCm39) missense probably damaging 1.00
R1761:Mcm2 UTSW 6 88,866,770 (GRCm39) missense possibly damaging 0.90
R1917:Mcm2 UTSW 6 88,868,785 (GRCm39) missense possibly damaging 0.88
R2250:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R2307:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R2308:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R2309:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R2379:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R3431:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R3432:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R3878:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R3911:Mcm2 UTSW 6 88,865,234 (GRCm39) missense probably damaging 0.98
R3934:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R3936:Mcm2 UTSW 6 88,869,990 (GRCm39) missense probably damaging 0.99
R4640:Mcm2 UTSW 6 88,864,786 (GRCm39) missense possibly damaging 0.53
R4749:Mcm2 UTSW 6 88,868,973 (GRCm39) missense possibly damaging 0.95
R5267:Mcm2 UTSW 6 88,874,432 (GRCm39) missense probably benign
R5701:Mcm2 UTSW 6 88,870,073 (GRCm39) missense probably damaging 1.00
R5872:Mcm2 UTSW 6 88,861,053 (GRCm39) missense probably benign 0.05
R6118:Mcm2 UTSW 6 88,864,818 (GRCm39) missense probably damaging 1.00
R6152:Mcm2 UTSW 6 88,866,891 (GRCm39) critical splice acceptor site probably benign
R6207:Mcm2 UTSW 6 88,862,844 (GRCm39) missense probably benign 0.00
R6550:Mcm2 UTSW 6 88,863,941 (GRCm39) critical splice donor site probably null
R7184:Mcm2 UTSW 6 88,868,776 (GRCm39) missense probably damaging 1.00
R8069:Mcm2 UTSW 6 88,869,039 (GRCm39) missense probably damaging 1.00
R8215:Mcm2 UTSW 6 88,874,293 (GRCm39) missense probably damaging 0.98
R9121:Mcm2 UTSW 6 88,861,019 (GRCm39) missense probably benign
R9745:Mcm2 UTSW 6 88,868,729 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCTTGTCAAACTCGTCAATGAG -3'
(R):5'- CCTCACTGAGGGGATTAAGC -3'

Sequencing Primer
(F):5'- TCAGCCAGAACCAGGGCTC -3'
(R):5'- CCTCACTGAGGGGATTAAGCATAAG -3'
Posted On 2019-06-26