Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Msh2'

7953

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

MMRRC Submission

038306-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87979960-88031141 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 87987521 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

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: 78.3%
3x: 67.8%
10x: 41.6%
20x: 22.3%

Validation Efficiency

92% (85/92)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Chia1	A	G	3: 106,038,290 (GRCm39)		probably benign	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Ift70a2	T	A	2: 75,806,561 (GRCm39)	R650S	probably damaging	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Krt35	T	A	11: 99,984,502 (GRCm39)	Q331L	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Ncoa1	A	C	12: 4,372,896 (GRCm39)	F57L	possibly damaging	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Pcdhgb8	T	C	18: 37,897,335 (GRCm39)	S802P	probably benign	Het
Ralgapa1	A	G	12: 55,833,048 (GRCm39)	S152P	probably damaging	Het
Rasgef1b	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	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
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

2012-11-20