Mutagenetix > Incidental Mutations

Incidental Mutation 'R4589:Msh2'

342711

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87672330-87723713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87680032 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 200 (V200D)

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024967
AA Change: V200D

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: V200D

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: ENSMUST00000172855

SMART Domains

Protein: ENSMUSP00000133650
Gene: ENSMUSG00000024151

Domain	Start	End	E-Value	Type
Pfam:MutS_I	13	129	3.8e-22	PFAM
Pfam:MutS_II	103	193	2.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174240

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,582	S223P	probably damaging	Het
Abcc1	G	T	16: 14,394,031	V157L	probably benign	Het
Actn1	G	A	12: 80,171,799	T737I	possibly damaging	Het
Ada	T	C	2: 163,732,948	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,333,011	L184*	probably null	Het
Arfgef3	T	C	10: 18,646,199	D693G	probably damaging	Het
Arid4a	A	T	12: 71,069,964	I277F	probably damaging	Het
BC003331	C	T	1: 150,384,487	V127I	probably benign	Het
Ccdc171	A	G	4: 83,549,618	S67G	probably benign	Het
Ccr5	T	A	9: 124,124,502	F47L	probably benign	Het
Clip4	T	A	17: 71,810,867	C302*	probably null	Het
Cyth1	C	T	11: 118,184,985	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,439,742		probably null	Het
Def6	G	T	17: 28,228,147	R584L	probably benign	Het
Dnah7c	C	A	1: 46,514,583	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,417,338	C173W	probably damaging	Het
Gm14403	C	T	2: 177,508,635	H125Y	probably benign	Het
Grk3	T	C	5: 112,941,718	I323V	possibly damaging	Het
Homez	G	T	14: 54,857,030	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,130,628	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,306,484	W305R	unknown	Het
Il27ra	G	T	8: 84,036,409	N296K	probably damaging	Het
Lzic	G	T	4: 149,488,104	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,921,419	V183A	probably damaging	Het
Mme	T	A	3: 63,380,272	D731E	probably benign	Het
Mocos	T	C	18: 24,654,038	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,117,973		probably null	Het
Mug1	A	T	6: 121,857,351	I364F	probably benign	Het
Mycbp2	G	T	14: 103,177,313	S2554R	probably benign	Het
Nat10	A	G	2: 103,754,070	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,079,073	D183E	probably damaging	Het
Olfr1162	T	C	2: 88,050,479	I48M	probably benign	Het
Olfr1426	T	C	19: 12,087,941	I284V	possibly damaging	Het
Olfr616	A	T	7: 103,564,432	F282L	probably damaging	Het
Olfr648	C	A	7: 104,179,429		probably null	Het
Pak6	T	A	2: 118,696,540	I672K	probably damaging	Het
Pan3	A	T	5: 147,543,173	I830F	probably damaging	Het
Pcdh9	A	T	14: 93,888,192	L181I	probably damaging	Het
Pigg	G	A	5: 108,332,690	A447T	probably benign	Het
Pitpnb	T	A	5: 111,371,348	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,833,279	Y67C	probably damaging	Het
Plch1	A	G	3: 63,781,507	I80T	probably damaging	Het
Pnma1	A	G	12: 84,147,461	I156T	probably benign	Het
Prss21	G	T	17: 23,872,822	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,262,331	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,705,647	F78L	probably benign	Het
Riok3	T	A	18: 12,136,787	Y92N	probably benign	Het
Rpap2	T	C	5: 107,620,495	S400P	probably benign	Het
Ryr3	C	A	2: 112,875,133	G792V	probably damaging	Het
Sept3	A	G	15: 82,285,891	E206G	probably damaging	Het
Stkld1	T	C	2: 26,950,667	S454P	probably damaging	Het
Tdh	A	T	14: 63,495,877	L140Q	probably damaging	Het
Tex15	T	A	8: 33,557,373	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,064,161	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,754,779	L290*	probably null	Het
Vmn1r31	A	G	6: 58,472,611	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,670,895	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,356,714	I42F	probably damaging	Het
Vps35	G	A	8: 85,287,702	P106L	probably damaging	Het
Xrcc6	T	A	15: 82,022,460	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,388,470	P388S	probably damaging	Het
Zfp541	C	T	7: 16,083,336	A902V	probably benign	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	splice site	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
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
R7260:Msh2	UTSW	17	87717619	missense	probably damaging	0.97
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'- CAGCTTCCGTTGGCGTTATG -3'
(R):5'- TCATCAGCTGGAACCACAG -3'

Sequencing Primer
(F):5'- GCGTTATGGGTATTAAAATGGCC -3'
(R):5'- TAGCATCCAGAGCTCAGTGC -3'

Posted On

2015-09-24