Incidental Mutation 'R1146:Msh2'
ID 165134
Institutional Source Beutler Lab
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R1146 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87987488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 209 (D209E)
Ref Sequence ENSEMBL: ENSMUSP00000024967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024967]
AlphaFold P43247
Predicted Effect probably benign
Transcript: ENSMUST00000024967
AA Change: D209E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: D209E

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
Predicted Effect probably benign
Transcript: ENSMUST00000172855
SMART Domains Protein: ENSMUSP00000133650
Gene: ENSMUSG00000024151

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1278 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 95.4%
  • 20x: 88.7%
Validation Efficiency 98% (44/45)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ccdc150 A T 1: 54,404,130 (GRCm39) probably benign Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Dync1i2 C T 2: 71,058,164 (GRCm39) probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frg1 A G 8: 41,864,254 (GRCm39) probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm10774 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Mpi A G 9: 57,452,472 (GRCm39) probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pax5 G T 4: 44,697,512 (GRCm39) probably benign Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Prss16 A G 13: 22,191,138 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly 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
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
Predicted Primers PCR Primer
(F):5'- CCCGGCAATCTTTCTCAGTTTGAAGAC -3'
(R):5'- TGGAACCACAGCTCAGTGCTAGAG -3'

Sequencing Primer
(F):5'- GACATCCTGTTTGGTAACAATGAC -3'
(R):5'- tcaggggtagagcaccag -3'
Posted On 2014-03-28