Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01605:Msh2'

278751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

IGL01605

Quality Score

Status

Chromosome

Chromosomal Location

87979960-88031141 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 88003917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P43247

Predicted Effect

probably benign
Transcript: ENSMUST00000024967

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151

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

noncoding transcript
Transcript: ENSMUST00000172596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173097

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brip1	T	A	11: 85,952,830 (GRCm39)	T984S	possibly damaging	Het
Cdh17	T	C	4: 11,795,670 (GRCm39)	Y417H	probably damaging	Het
Chd7	T	A	4: 8,833,834 (GRCm39)	I1196N	probably damaging	Het
Cyp3a57	T	C	5: 145,323,854 (GRCm39)	F447S	probably damaging	Het
Dock8	C	T	19: 25,067,252 (GRCm39)		probably benign	Het
Eif1ad5	A	T	12: 87,940,530 (GRCm39)		noncoding transcript	Het
Fam163b	A	G	2: 27,002,688 (GRCm39)	F103S	probably damaging	Het
G0s2	A	G	1: 192,954,964 (GRCm39)	L40P	probably damaging	Het
Gucy1b1	C	T	3: 81,942,660 (GRCm39)	R494Q	probably benign	Het
Hsd17b1	T	C	11: 100,969,755 (GRCm39)	V89A	probably damaging	Het
Iqcg	T	C	16: 32,837,348 (GRCm39)		probably benign	Het
Lmo7	T	C	14: 102,148,192 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Mnx1	T	C	5: 29,682,591 (GRCm39)	D228G	unknown	Het
Pabpc1	A	G	15: 36,599,550 (GRCm39)	Y382H	probably benign	Het
Prl7b1	A	G	13: 27,786,027 (GRCm39)	S214P	possibly damaging	Het
Ptk2	C	T	15: 73,136,188 (GRCm39)		probably benign	Het
Rbpj-ps3	T	C	6: 46,507,025 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,433,531 (GRCm39)	M162K	possibly damaging	Het
Skint2	A	G	4: 112,483,191 (GRCm39)	T199A	probably benign	Het
Stim1	A	G	7: 102,035,322 (GRCm39)	D100G	possibly damaging	Het
Taar5	C	T	10: 23,846,962 (GRCm39)	T120I	probably benign	Het
Trhde	A	G	10: 114,623,848 (GRCm39)	V352A	probably benign	Het
Ubap2	T	A	4: 41,227,237 (GRCm39)	D160V	probably damaging	Het
Vmn2r18	A	G	5: 151,510,106 (GRCm39)	V89A	possibly damaging	Het
Wbp1l	A	G	19: 46,642,839 (GRCm39)	D264G	possibly damaging	Het

Other mutations in Msh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Msh2	APN	17	87,985,663 (GRCm39)	missense	probably damaging	1.00
IGL01602:Msh2	APN	17	88,003,917 (GRCm39)	unclassified	probably benign
IGL01775:Msh2	APN	17	87,990,074 (GRCm39)	missense	possibly damaging	0.94
IGL02243:Msh2	APN	17	87,985,796 (GRCm39)	splice site	probably benign
IGL02524:Msh2	APN	17	87,985,785 (GRCm39)	missense	probably benign	0.01
IGL02730:Msh2	APN	17	88,014,643 (GRCm39)	missense	probably damaging	1.00
IGL02743:Msh2	APN	17	88,014,643 (GRCm39)	missense	probably damaging	1.00
IGL03049:Msh2	APN	17	88,015,937 (GRCm39)	missense	probably damaging	1.00
IGL03282:Msh2	APN	17	87,996,430 (GRCm39)	missense	probably benign	0.00
IGL03286:Msh2	APN	17	87,990,095 (GRCm39)	missense	possibly damaging	0.92
R0011:Msh2	UTSW	17	87,987,521 (GRCm39)	intron	probably benign
R0363:Msh2	UTSW	17	88,024,904 (GRCm39)	missense	probably benign	0.30
R0520:Msh2	UTSW	17	88,024,972 (GRCm39)	missense	possibly damaging	0.77
R0633:Msh2	UTSW	17	87,980,238 (GRCm39)	splice site	probably null
R0862:Msh2	UTSW	17	87,987,480 (GRCm39)	missense	probably benign
R0864:Msh2	UTSW	17	87,987,480 (GRCm39)	missense	probably benign
R1146:Msh2	UTSW	17	87,987,488 (GRCm39)	missense	probably benign	0.00
R1146:Msh2	UTSW	17	87,987,488 (GRCm39)	missense	probably benign	0.00
R1264:Msh2	UTSW	17	88,014,607 (GRCm39)	splice site	probably null
R1459:Msh2	UTSW	17	87,985,771 (GRCm39)	missense	probably benign	0.01
R1572:Msh2	UTSW	17	88,026,080 (GRCm39)	missense	possibly damaging	0.89
R1592:Msh2	UTSW	17	87,987,441 (GRCm39)	splice site	probably null
R1647:Msh2	UTSW	17	87,980,064 (GRCm39)	missense	probably benign
R1984:Msh2	UTSW	17	88,026,724 (GRCm39)	missense	probably damaging	1.00
R2298:Msh2	UTSW	17	88,015,930 (GRCm39)	missense	probably damaging	0.99
R2871:Msh2	UTSW	17	87,993,012 (GRCm39)	missense	possibly damaging	0.61
R2871:Msh2	UTSW	17	87,993,012 (GRCm39)	missense	possibly damaging	0.61
R4383:Msh2	UTSW	17	87,996,566 (GRCm39)	missense	probably benign	0.00
R4411:Msh2	UTSW	17	88,025,032 (GRCm39)	missense	probably damaging	0.97
R4589:Msh2	UTSW	17	87,987,460 (GRCm39)	missense	possibly damaging	0.67
R4598:Msh2	UTSW	17	88,016,006 (GRCm39)	missense	probably damaging	1.00
R4599:Msh2	UTSW	17	88,016,006 (GRCm39)	missense	probably damaging	1.00
R4712:Msh2	UTSW	17	87,985,813 (GRCm39)	intron	probably benign
R4714:Msh2	UTSW	17	88,026,217 (GRCm39)	missense	probably damaging	1.00
R4834:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R4842:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R4859:Msh2	UTSW	17	88,026,187 (GRCm39)	missense	possibly damaging	0.94
R5007:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5008:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5010:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5014:Msh2	UTSW	17	88,025,004 (GRCm39)	missense	possibly damaging	0.83
R5048:Msh2	UTSW	17	87,980,196 (GRCm39)	missense	probably damaging	1.00
R5133:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5162:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5163:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5183:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5184:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5597:Msh2	UTSW	17	88,030,789 (GRCm39)	missense	probably benign	0.04
R5655:Msh2	UTSW	17	88,026,871 (GRCm39)	missense	possibly damaging	0.82
R5973:Msh2	UTSW	17	88,016,011 (GRCm39)	missense	probably damaging	1.00
R6191:Msh2	UTSW	17	88,030,900 (GRCm39)	missense	probably benign	0.03
R6632:Msh2	UTSW	17	88,020,094 (GRCm39)	missense	possibly damaging	0.49
R7260:Msh2	UTSW	17	88,025,047 (GRCm39)	missense	probably damaging	0.97
R7358:Msh2	UTSW	17	88,024,957 (GRCm39)	missense	possibly damaging	0.89
R9197:Msh2	UTSW	17	88,026,943 (GRCm39)	missense	possibly damaging	0.79
R9227:Msh2	UTSW	17	88,026,717 (GRCm39)	missense	probably benign	0.10
R9230:Msh2	UTSW	17	88,026,717 (GRCm39)	missense	probably benign	0.10
R9459:Msh2	UTSW	17	87,985,758 (GRCm39)	missense	possibly damaging	0.89
R9799:Msh2	UTSW	17	88,024,933 (GRCm39)	missense	probably damaging	1.00
X0058:Msh2	UTSW	17	87,987,362 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16