Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Msh2'

151128

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

MMRRC Submission

039331-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87979960-88031141 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88014607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

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

AlphaFold

P43247

Predicted Effect

probably null
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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,592,103 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,896,712 (GRCm39)	C27S	probably benign	Het
Adgrb3	C	T	1: 25,598,931 (GRCm39)	G258E	probably damaging	Het
Akna	T	C	4: 63,299,962 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,791,233 (GRCm39)	N21S	probably benign	Het
Ano6	A	G	15: 95,847,447 (GRCm39)	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,518,615 (GRCm39)		probably benign	Het
Clec10a	T	A	11: 70,060,567 (GRCm39)	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,339,662 (GRCm39)	R770G	probably benign	Het
Cndp2	C	A	18: 84,696,916 (GRCm39)	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Col4a3	A	T	1: 82,621,022 (GRCm39)		probably benign	Het
Daam1	A	G	12: 72,022,085 (GRCm39)		probably benign	Het
H2-M9	A	G	17: 36,953,484 (GRCm39)	V18A	probably benign	Het
Heatr1	T	A	13: 12,439,491 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,221,675 (GRCm39)	D715G	probably benign	Het
Incenp	T	C	19: 9,861,379 (GRCm39)	K425E	unknown	Het
Kif13b	T	C	14: 65,013,681 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,071,604 (GRCm39)	N474D	probably damaging	Het
Myo18b	T	C	5: 112,978,185 (GRCm39)	T1246A	probably benign	Het
Nob1	T	C	8: 108,148,136 (GRCm39)	H102R	probably damaging	Het
Or4z4	G	T	19: 12,076,198 (GRCm39)	D268E	probably benign	Het
Pard3b	A	T	1: 62,203,316 (GRCm39)	I415F	probably damaging	Het
Pfkl	T	G	10: 77,829,250 (GRCm39)	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,474,195 (GRCm39)	V447A	probably benign	Het
Poli	C	T	18: 70,650,574 (GRCm39)	V266I	probably benign	Het
Rapgef4	A	T	2: 71,861,449 (GRCm39)	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,265,975 (GRCm39)		probably benign	Het
Six3	T	A	17: 85,929,285 (GRCm39)	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,060,158 (GRCm39)	E944D	possibly damaging	Het
Sptb	A	G	12: 76,659,381 (GRCm39)	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,423,837 (GRCm39)		probably benign	Het
Trrap	A	G	5: 144,726,409 (GRCm39)		probably benign	Het
Wbp11	A	G	6: 136,791,513 (GRCm39)		probably benign	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
IGL01605: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
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

Predicted Primers

PCR Primer
(F):5'- GCATCATGGACTTTGGGTCTGCTTC -3'
(R):5'- TGACATCTGCCATCCGCAATGAC -3'

Sequencing Primer
(F):5'- GTGTATCTAGAACTCTTAAGCGCC -3'
(R):5'- CTAGTCTCTGAGTGAAGCACG -3'

Posted On

2014-01-29