Mutagenetix > Incidental Mutation

Incidental Mutation 'R3911:Mcm2'

309382

Institutional Source

Beutler Lab

Gene Symbol

Mcm2

Ensembl Gene

ENSMUSG00000002870

Gene Name

minichromosome maintenance complex component 2

Synonyms

BM28, CDCL1, Mcmd2

MMRRC Submission

040909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88860456-88875762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88865234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 481 (I481T)

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: I481T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061923
Gene: ENSMUSG00000002870
AA Change: I481T

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

Meta Mutation Damage Score

0.7358

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	A	5: 124,227,909 (GRCm39)	I111F	probably benign	Het
Abcc12	A	C	8: 87,255,048 (GRCm39)		probably benign	Het
Adgre1	G	T	17: 57,754,860 (GRCm39)	V653L	probably damaging	Het
Aebp2	T	A	6: 140,593,707 (GRCm39)	D230E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Casp8	A	T	1: 58,872,864 (GRCm39)	S267C	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cd2ap	T	A	17: 43,126,980 (GRCm39)		probably null	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,728,897 (GRCm39)	E1155D	probably damaging	Het
Cnnm2	A	G	19: 46,866,375 (GRCm39)	E841G	probably damaging	Het
Cntrl	G	A	2: 35,010,061 (GRCm39)	R245H	probably damaging	Het
Cyp2b23	A	T	7: 26,380,842 (GRCm39)	S128T	probably benign	Het
Dhrs11	A	T	11: 84,712,579 (GRCm39)	I196N	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Edc3	A	T	9: 57,655,686 (GRCm39)	I479F	possibly damaging	Het
Emg1	T	A	6: 124,682,009 (GRCm39)	M172L	probably benign	Het
Epha7	G	A	4: 28,938,680 (GRCm39)	V512I	probably benign	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Fasl	C	A	1: 161,615,760 (GRCm39)	C32F	probably benign	Het
Flg	A	T	3: 93,187,307 (GRCm39)	H253L	probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm17067	T	A	7: 42,360,104 (GRCm39)	I43L	possibly damaging	Het
Gpld1	A	G	13: 25,146,305 (GRCm39)	Y183C	probably damaging	Het
Gpr137c	C	A	14: 45,516,392 (GRCm39)	P327T	probably benign	Het
Hepacam2	A	G	6: 3,494,477 (GRCm39)	M1T	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Itgb8	T	A	12: 119,131,740 (GRCm39)	E635V	possibly damaging	Het
Kat14	T	C	2: 144,245,982 (GRCm39)	V469A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	T	9: 110,265,151 (GRCm39)	L285Q	probably damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Krtap4-8	A	T	11: 99,670,863 (GRCm39)	C203S	unknown	Het
Lsp1	C	T	7: 142,040,098 (GRCm39)	S75F	probably damaging	Het
Map1b	A	G	13: 99,567,580 (GRCm39)	S1714P	unknown	Het
Mcpt9	T	C	14: 56,265,136 (GRCm39)	T122A	probably benign	Het
Megf10	A	T	18: 57,422,465 (GRCm39)	R947W	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or51ai2	A	T	7: 103,586,616 (GRCm39)	N10Y	possibly damaging	Het
Pank4	A	G	4: 155,054,058 (GRCm39)	Y79C	probably damaging	Het
Pds5b	T	A	5: 150,670,171 (GRCm39)	N386K	probably benign	Het
Pfkm	A	G	15: 98,022,928 (GRCm39)	M362V	probably benign	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Pou4f1	C	T	14: 104,703,611 (GRCm39)	A274T	unknown	Het
Proc	A	G	18: 32,256,758 (GRCm39)	L303P	probably damaging	Het
Ptk2b	C	T	14: 66,394,517 (GRCm39)	G821D	possibly damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Serpinb6c	T	C	13: 34,077,888 (GRCm39)	N161D	probably benign	Het
Sf3b1	G	A	1: 55,058,548 (GRCm39)	Q14*	probably null	Het
Sh3d19	G	A	3: 86,014,534 (GRCm39)	V442M	possibly damaging	Het
Slc30a8	A	G	15: 52,185,097 (GRCm39)	I140V	probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Strap	T	G	6: 137,712,380 (GRCm39)	C10G	probably damaging	Het
Tcf7	C	A	11: 52,173,793 (GRCm39)		probably benign	Het
Tmem114	A	T	16: 8,230,054 (GRCm39)	M116K	probably damaging	Het
Tmem63b	A	G	17: 45,988,884 (GRCm39)	S113P	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Tns2	T	C	15: 102,022,272 (GRCm39)		probably null	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ush2a	T	A	1: 188,132,151 (GRCm39)	V791D	probably benign	Het
Vmn2r99	T	C	17: 19,614,635 (GRCm39)	F785S	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Wdr35	A	T	12: 9,036,077 (GRCm39)	I283F	probably benign	Het
Wnt10b	G	T	15: 98,672,219 (GRCm39)	A166E	possibly damaging	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
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
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'- AGAGACAGCCCATCAGAGTG -3'
(R):5'- AAGGGAAACTGCTGTTGTGG -3'

Sequencing Primer
(F):5'- AGCCCATCAGAGTGGACCAG -3'
(R):5'- GTGGCTCACAACCATCTATAATGGG -3'

Posted On

2015-04-17