Incidental Mutation 'R1761:Mcm2'
ID 192767
Institutional Source Beutler Lab
Gene Symbol Mcm2
Ensembl Gene ENSMUSG00000002870
Gene Name minichromosome maintenance complex component 2
Synonyms BM28, CDCL1, Mcmd2
MMRRC Submission 039793-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1761 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 88860456-88875762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88866770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 412 (I412M)
Ref Sequence ENSEMBL: ENSMUSP00000061923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058011] [ENSMUST00000205165]
AlphaFold P97310
Predicted Effect possibly damaging
Transcript: ENSMUST00000058011
AA Change: I412M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: I412M

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 noncoding transcript
Transcript: ENSMUST00000203172
Predicted Effect probably benign
Transcript: ENSMUST00000203935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204393
Predicted Effect probably benign
Transcript: ENSMUST00000205165
SMART Domains Protein: ENSMUSP00000145295
Gene: ENSMUSG00000002870

low complexity region 11 32 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,488,672 (GRCm39) H1268Y possibly damaging Het
Acan T A 7: 78,743,833 (GRCm39) Y621* probably null Het
Aig1 T C 10: 13,566,328 (GRCm39) Y152C probably damaging Het
Arhgap33 C T 7: 30,232,488 (GRCm39) probably null Het
Bcl6 G T 16: 23,796,292 (GRCm39) A45D probably damaging Het
Cbx5 T C 15: 103,121,607 (GRCm39) D10G possibly damaging Het
Ccdc191 A G 16: 43,763,873 (GRCm39) I445V probably benign Het
Cdk4 T A 10: 126,900,546 (GRCm39) probably benign Het
Chil6 A G 3: 106,301,654 (GRCm39) F149L probably damaging Het
Cntn5 T C 9: 10,172,059 (GRCm39) T42A probably benign Het
Cpn2 A T 16: 30,079,014 (GRCm39) I229N probably damaging Het
Cpne8 A G 15: 90,532,821 (GRCm39) V62A probably damaging Het
Cr2 A G 1: 194,837,431 (GRCm39) probably null Het
Crnn A T 3: 93,055,958 (GRCm39) H248L probably benign Het
Csn1s1 A G 5: 87,826,894 (GRCm39) S254G probably benign Het
Cubn A G 2: 13,494,128 (GRCm39) probably null Het
Dnah8 A G 17: 30,998,890 (GRCm39) N3525S probably damaging Het
Dpp3 A G 19: 4,971,177 (GRCm39) L220P probably benign Het
Fam110a T C 2: 151,812,125 (GRCm39) E215G probably benign Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Fat4 T C 3: 38,941,638 (GRCm39) V177A possibly damaging Het
Fzd8 C T 18: 9,213,643 (GRCm39) R242C probably damaging Het
Gimap5 A T 6: 48,730,195 (GRCm39) Q255L probably damaging Het
Gm4787 A G 12: 81,423,950 (GRCm39) L736S probably benign Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gpr156 T C 16: 37,807,929 (GRCm39) L192P probably damaging Het
Gpr179 A C 11: 97,225,932 (GRCm39) S2074R probably benign Het
Hddc2 G T 10: 31,202,135 (GRCm39) D161Y probably damaging Het
Hlcs T C 16: 94,068,866 (GRCm39) D265G probably benign Het
Hspg2 A T 4: 137,241,984 (GRCm39) I573F possibly damaging Het
Il1b T C 2: 129,207,101 (GRCm39) K220E probably damaging Het
Il5 T C 11: 53,614,557 (GRCm39) I66T probably damaging Het
Irf6 G A 1: 192,851,609 (GRCm39) R400H probably damaging Het
Klra1 A T 6: 130,349,836 (GRCm39) Y201N probably damaging Het
Lmf2 A G 15: 89,236,916 (GRCm39) V442A possibly damaging Het
Mlkl T A 8: 112,060,355 (GRCm39) L18F possibly damaging Het
Mug2 C A 6: 122,051,664 (GRCm39) H949N probably benign Het
Nf1 T C 11: 79,275,091 (GRCm39) F51L probably damaging Het
Or52j3 T G 7: 102,836,325 (GRCm39) C172W probably damaging Het
Or7d10 A T 9: 19,832,445 (GRCm39) *313C probably null Het
Or8k18 T G 2: 86,085,383 (GRCm39) Y218S probably damaging Het
P3h2 T C 16: 25,803,800 (GRCm39) E322G probably damaging Het
Pramel21 T C 4: 143,342,438 (GRCm39) Y182H probably benign Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptdss1 T C 13: 67,104,476 (GRCm39) V116A possibly damaging Het
Ranbp2 T C 10: 58,321,563 (GRCm39) V2620A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Scg3 T A 9: 75,584,040 (GRCm39) I154F probably damaging Het
Scgn A T 13: 24,143,689 (GRCm39) F225Y probably damaging Het
Sec61b T C 4: 47,480,137 (GRCm39) C58R possibly damaging Het
Slc25a46 G T 18: 31,740,315 (GRCm39) Q96K possibly damaging Het
Spmip6 G A 4: 41,507,223 (GRCm39) P109L probably damaging Het
Sptb A G 12: 76,659,382 (GRCm39) F1173L probably damaging Het
Srcap T A 7: 127,134,017 (GRCm39) C893S probably damaging Het
Tet3 T C 6: 83,380,641 (GRCm39) E509G probably damaging Het
Timm10b C T 7: 105,332,915 (GRCm39) R897* probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tom1 T C 8: 75,778,179 (GRCm39) V87A probably benign Het
Tti1 T C 2: 157,849,617 (GRCm39) I541V probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vgll3 A T 16: 65,636,614 (GRCm39) D310V probably damaging Het
Vmac A G 17: 57,022,788 (GRCm39) L74P probably damaging Het
Zbtb1 A T 12: 76,432,595 (GRCm39) K194* probably null Het
Zfp429 A G 13: 67,544,195 (GRCm39) M76T probably benign Het
Zfp808 T A 13: 62,319,460 (GRCm39) C230S possibly damaging Het
Zfp980 A G 4: 145,428,612 (GRCm39) Y447C probably damaging Het
Zfp985 A G 4: 147,668,502 (GRCm39) T457A 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
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
R7303:Mcm2 UTSW 6 88,864,928 (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

Sequencing Primer
(F):5'- agaccctgacacatctccc -3'
Posted On 2014-05-23