Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Msh2'

415703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.828) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

87672330-87723713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87682667 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 261 (M261T)

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024967
AA Change: M261T

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: M261T

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

unknown
Transcript: ENSMUST00000172855
AA Change: M163T

SMART Domains

Protein: ENSMUSP00000133650
Gene: ENSMUSG00000024151
AA Change: M163T

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	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
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
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
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

Posted On

2016-08-02