Incidental Mutation 'R5162:Msh2'
ID 397079
Institutional Source Beutler Lab
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
MMRRC Submission 042744-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R5162 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88030841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 906 (A906E)
Ref Sequence ENSEMBL: ENSMUSP00000024967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024967]
AlphaFold P43247
Predicted Effect probably benign
Transcript: ENSMUST00000024967
AA Change: A906E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: A906E

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,301 (GRCm39) T229S probably benign Het
Adrb3 T C 8: 27,717,348 (GRCm39) E367G probably benign Het
Ak9 T A 10: 41,233,653 (GRCm39) N630K probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cry1 T A 10: 84,969,150 (GRCm39) H558L probably benign Het
Cstdc3 A T 16: 36,132,918 (GRCm39) H65L probably damaging Het
Cyp3a57 T A 5: 145,305,893 (GRCm39) W126R probably damaging Het
Dhx36 A T 3: 62,401,201 (GRCm39) V355E probably damaging Het
Dpp6 A G 5: 27,604,013 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 T C 15: 54,710,692 (GRCm39) D694G probably benign Het
Esrp2 T C 8: 106,859,930 (GRCm39) E336G probably damaging Het
Faah A T 4: 115,857,938 (GRCm39) probably benign Het
Fat1 G A 8: 45,478,846 (GRCm39) G2608R probably benign Het
Fbxo8 A T 8: 57,022,354 (GRCm39) Y122F probably damaging Het
Fgd5 A G 6: 92,051,215 (GRCm39) D1497G probably damaging Het
Fn3krp T C 11: 121,320,410 (GRCm39) F252L probably damaging Het
Fnip2 T C 3: 79,389,084 (GRCm39) Y549C probably damaging Het
Gcm2 T C 13: 41,257,131 (GRCm39) N206S probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
H2-T10 T A 17: 36,429,843 (GRCm39) probably null Het
Henmt1 T C 3: 108,847,366 (GRCm39) probably null Het
Man1b1 T A 2: 25,233,365 (GRCm39) L246Q probably damaging Het
Mdh2 T C 5: 135,812,329 (GRCm39) probably null Het
Mocos T C 18: 24,787,109 (GRCm39) F43L probably damaging Het
Naip5 T A 13: 100,359,914 (GRCm39) I441F possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nars2 T C 7: 96,709,027 (GRCm39) probably benign Het
Ncoa2 A T 1: 13,245,396 (GRCm39) M434K possibly damaging Het
Nlrp4g T A 9: 124,350,394 (GRCm38) noncoding transcript Het
Or14j8 T A 17: 38,263,255 (GRCm39) Q220L probably benign Het
Or9a2 G T 6: 41,748,706 (GRCm39) H176N possibly damaging Het
Pals2 T A 6: 50,155,495 (GRCm39) W259R probably damaging Het
Pars2 A G 4: 106,511,735 (GRCm39) T506A probably benign Het
Pkp2 T C 16: 16,078,200 (GRCm39) S481P probably damaging Het
Plod3 T C 5: 137,020,161 (GRCm39) W459R probably damaging Het
Pramel13 A T 4: 144,121,482 (GRCm39) L181M probably damaging Het
Prdm10 A T 9: 31,251,714 (GRCm39) I361F possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Raver2 T C 4: 100,959,921 (GRCm39) C134R probably damaging Het
Rnf130 G C 11: 49,943,722 (GRCm39) A123P probably damaging Het
Slc29a4 G A 5: 142,707,207 (GRCm39) A517T possibly damaging Het
Slc38a6 T A 12: 73,376,759 (GRCm39) S138T possibly damaging Het
Spred1 T C 2: 117,008,102 (GRCm39) V336A possibly damaging Het
Sptlc3 T A 2: 139,473,263 (GRCm39) M504K probably benign Het
Syt11 T C 3: 88,655,149 (GRCm39) D78G probably damaging Het
Trim23 C T 13: 104,317,682 (GRCm39) T61I probably damaging Het
Tsg101 T C 7: 46,542,174 (GRCm39) T260A probably damaging Het
Tyw5 T C 1: 57,440,618 (GRCm39) Y48C probably damaging Het
Utp25 G T 1: 192,796,089 (GRCm39) T192K probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vmn2r89 C A 14: 51,693,620 (GRCm39) H323Q possibly damaging Het
Vps18 A G 2: 119,123,423 (GRCm39) S117G probably benign Het
Zfp93 C G 7: 23,975,757 (GRCm39) Q581E probably damaging Het
Other mutations in Msh2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-06-21