Incidental Mutation 'R7184:Mcm2'
ID 559177
Institutional Source Beutler Lab
Gene Symbol Mcm2
Ensembl Gene ENSMUSG00000002870
Gene Name minichromosome maintenance complex component 2
Synonyms BM28, CDCL1, Mcmd2
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 88860456-88875762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88868776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 327 (Y327S)
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: Y327S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: Y327S

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: ENSMUST00000203935
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null 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
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
(F):5'- GGTCTTTCTTGCACACTCAAG -3'
(R):5'- ACATCCATGTGCGCATCTCC -3'

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