Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Mcm2'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- AGCTTTGTCCCACGGTGCTTTG -3'
(R):5'- CCATGACCTTTGTCTTGTGCAGACC -3'

Sequencing Primer
(F):5'- agaccctgacacatctccc -3'
(R):5'- TCTTGTGCAGACCATCTATCAGAAC -3'

Posted On

2014-05-23