Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Msh2'

372369

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87979960-88031141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88026187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 722 (V722I)

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

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

AlphaFold

P43247

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024967
AA Change: V722I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: V722I

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: 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

0.1863

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably 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
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
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
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'- GTGGCCTGGCATATAATTCAC -3'
(R):5'- TGCTGACCTGAAACGCATAATTAC -3'

Sequencing Primer
(F):5'- GGCCTGGCATATAATTCACTTATAGG -3'
(R):5'- TGCCTCCCAAGTGCTGAGATTAAG -3'

Posted On

2016-03-01