Mutagenetix > Incidental Mutations

Incidental Mutation 'R7260:Msh2'

564581

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87672330-87723713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87717619 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 642 (V642F)

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024967]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024967
AA Change: V642F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: V642F

Domain	Start	End	E-Value	Type
Pfam:MutS_I	17	132	4.6e-22	PFAM
Pfam:MutS_II	150	290	6.7e-23	PFAM
MUTSd	321	645	1e-105	SMART
MUTSac	662	849	3.54e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174703

SMART Domains

Protein: ENSMUSP00000133488
Gene: ENSMUSG00000024151

Domain	Start	End	E-Value	Type
Blast:MUTSd	2	63	7e-37	BLAST
PDB:2O8E\|A	2	63	4e-32	PDB
SCOP:d1e3ma1	5	53	2e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,973,886	S293P	probably benign	Het
Actn2	T	C	13: 12,276,490	N676S	probably benign	Het
Amfr	C	T	8: 93,976,148	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,504,552	A325D	probably damaging	Het
Apba2	A	G	7: 64,739,745	D463G	probably damaging	Het
Arid5b	A	G	10: 68,097,807	V755A	probably damaging	Het
Boc	A	T	16: 44,490,170	F796I		Het
Ccnt1	G	A	15: 98,565,124	Q56*	probably null	Het
Cd248	T	A	19: 5,069,355	Y410*	probably null	Het
Chd9	T	A	8: 90,994,543	N986K	unknown	Het
Col6a6	T	C	9: 105,783,969	T314A	probably benign	Het
Cpped1	A	G	16: 11,828,463	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,000,574	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,842,900	V490L	probably benign	Het
Dcst2	T	C	3: 89,366,286	F157S	probably damaging	Het
Ddx54	G	T	5: 120,626,920	R788L	probably benign	Het
Dnah1	T	C	14: 31,269,386	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,706,744	R2320W	probably damaging	Het
E130309D02Rik	A	G	5: 143,311,839	V151A	probably benign	Het
Emilin2	T	C	17: 71,274,790	T314A	probably benign	Het
Eml2	A	G	7: 19,200,590	S405G	probably benign	Het
Ephb2	A	G	4: 136,771,574	F65L	probably damaging	Het
Fam49b	A	T	15: 63,957,589	F23L	possibly damaging	Het
Fbn2	T	C	18: 58,066,116	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,218,470	T206A	probably benign	Het
Filip1l	A	G	16: 57,570,924	E625G	probably damaging	Het
Gen1	A	C	12: 11,256,848	M172R	probably damaging	Het
Gk5	A	G	9: 96,119,610	K54E	probably benign	Het
Glis3	T	C	19: 28,531,402	E394G	probably benign	Het
Gm16486	T	C	8: 70,708,748	Y197H	probably benign	Het
Helq	T	A	5: 100,791,927	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,802,752	F83L	probably benign	Het
Kdm4d	T	C	9: 14,463,158	D468G	probably benign	Het
Kif20b	A	G	19: 34,950,210	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,418,260	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,332,642	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,066,144	M261L	probably benign	Het
Mical2	A	T	7: 112,319,794	Q430L	probably benign	Het
Mroh4	A	T	15: 74,608,129	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,322,346	Y231H	probably damaging	Het
Muc5b	G	T	7: 141,842,648	A166S	unknown	Het
Myo18b	T	C	5: 112,775,288	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,108,946	S975P	probably benign	Het
Oacyl	T	C	18: 65,698,367	L25P	probably damaging	Het
Olfr1138	T	C	2: 87,738,508		probably null	Het
Olfr1145	A	G	2: 87,810,387	N189S	probably damaging	Het
Olfr1463	T	C	19: 13,235,024	F258S	probably damaging	Het
Olfr151	T	A	9: 37,730,753	I77F	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Patj	A	G	4: 98,416,733	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,129,234	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phkb	T	A	8: 85,878,130	Y55N	probably benign	Het
Pias4	A	G	10: 81,157,468	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,239,520	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,205,212	V383M	probably benign	Het
Rars	C	A	11: 35,834,454	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,270,780	K454*	probably null	Het
Rmnd1	A	T	10: 4,414,803		probably null	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Rngtt	T	C	4: 33,356,176	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,224,481	E189G	unknown	Het
Slc30a3	G	A	5: 31,088,346	T281I	probably damaging	Het
Smok3c	T	A	5: 138,065,623	D457E	possibly damaging	Het
Stard9	C	A	2: 120,706,938	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,945,079	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,665,366	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 123,186,590	E1502G	probably benign	Het
Tpp1	A	T	7: 105,747,497	S438T	probably benign	Het
Tubb2a	T	A	13: 34,075,414	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,629,194	S26P	probably benign	Het
Unc13a	G	T	8: 71,660,585	S207R	possibly damaging	Het
Usp35	T	G	7: 97,320,079	D362A	probably damaging	Het
Utp20	A	G	10: 88,751,472	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,475,385	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,166,876	A159V	probably damaging	Het
Wdr63	T	A	3: 146,046,540	M794L	probably benign	Het
Wiz	T	C	17: 32,359,111	K467E	probably damaging	Het
Zfp534	T	C	4: 147,675,004	T403A	probably benign	Het
Zswim5	T	C	4: 116,962,646	L416P	probably damaging	Het

Other mutations in Msh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Msh2	APN	17	87678235	missense	probably damaging	1.00
IGL01602:Msh2	APN	17	87696489	unclassified	probably benign
IGL01605:Msh2	APN	17	87696489	unclassified	probably benign
IGL01775:Msh2	APN	17	87682646	missense	possibly damaging	0.94
IGL02243:Msh2	APN	17	87678368	splice site	probably benign
IGL02524:Msh2	APN	17	87678357	missense	probably benign	0.01
IGL02730:Msh2	APN	17	87707215	missense	probably damaging	1.00
IGL02743:Msh2	APN	17	87707215	missense	probably damaging	1.00
IGL03049:Msh2	APN	17	87708509	missense	probably damaging	1.00
IGL03282:Msh2	APN	17	87689002	missense	probably benign	0.00
IGL03286:Msh2	APN	17	87682667	missense	possibly damaging	0.92
R0011:Msh2	UTSW	17	87680093	intron	probably benign
R0363:Msh2	UTSW	17	87717476	missense	probably benign	0.30
R0520:Msh2	UTSW	17	87717544	missense	possibly damaging	0.77
R0633:Msh2	UTSW	17	87672810	splice site	probably null
R0862:Msh2	UTSW	17	87680052	missense	probably benign
R0864:Msh2	UTSW	17	87680052	missense	probably benign
R1146:Msh2	UTSW	17	87680060	missense	probably benign	0.00
R1146:Msh2	UTSW	17	87680060	missense	probably benign	0.00
R1264:Msh2	UTSW	17	87707179	splice site	probably null
R1459:Msh2	UTSW	17	87678343	missense	probably benign	0.01
R1572:Msh2	UTSW	17	87718652	missense	possibly damaging	0.89
R1592:Msh2	UTSW	17	87680013	intron	probably null
R1647:Msh2	UTSW	17	87672636	missense	probably benign
R1984:Msh2	UTSW	17	87719296	missense	probably damaging	1.00
R2298:Msh2	UTSW	17	87708502	missense	probably damaging	0.99
R2871:Msh2	UTSW	17	87685584	missense	possibly damaging	0.61
R2871:Msh2	UTSW	17	87685584	missense	possibly damaging	0.61
R4383:Msh2	UTSW	17	87689138	missense	probably benign	0.00
R4411:Msh2	UTSW	17	87717604	missense	probably damaging	0.97
R4589:Msh2	UTSW	17	87680032	missense	possibly damaging	0.67
R4598:Msh2	UTSW	17	87708578	missense	probably damaging	1.00
R4599:Msh2	UTSW	17	87708578	missense	probably damaging	1.00
R4712:Msh2	UTSW	17	87678385	intron	probably benign
R4714:Msh2	UTSW	17	87718789	missense	probably damaging	1.00
R4834:Msh2	UTSW	17	87723413	missense	probably benign
R4842:Msh2	UTSW	17	87723413	missense	probably benign
R4859:Msh2	UTSW	17	87718759	missense	possibly damaging	0.94
R5007:Msh2	UTSW	17	87723413	missense	probably benign
R5008:Msh2	UTSW	17	87723413	missense	probably benign
R5010:Msh2	UTSW	17	87723413	missense	probably benign
R5014:Msh2	UTSW	17	87717576	missense	possibly damaging	0.83
R5048:Msh2	UTSW	17	87672768	missense	probably damaging	1.00
R5133:Msh2	UTSW	17	87723413	missense	probably benign
R5162:Msh2	UTSW	17	87723413	missense	probably benign
R5163:Msh2	UTSW	17	87723413	missense	probably benign
R5183:Msh2	UTSW	17	87723413	missense	probably benign
R5184:Msh2	UTSW	17	87723413	missense	probably benign
R5597:Msh2	UTSW	17	87723361	missense	probably benign	0.04
R5655:Msh2	UTSW	17	87719443	missense	possibly damaging	0.82
R5973:Msh2	UTSW	17	87708583	missense	probably damaging	1.00
R6191:Msh2	UTSW	17	87723472	missense	probably benign	0.03
R6632:Msh2	UTSW	17	87712666	missense	possibly damaging	0.49
R7358:Msh2	UTSW	17	87717529	missense	possibly damaging	0.89
X0058:Msh2	UTSW	17	87679934	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGGCCTTGAGCTAAGTC -3'
(R):5'- TCTGAATGTATGACCAACCAGAG -3'

Sequencing Primer
(F):5'- CGGCCTTGAGCTAAGTCTATTATAAG -3'
(R):5'- GAATGTATGACCAACCAGAGTAATAC -3'

Posted On

2019-06-26