Incidental Mutation 'R1572:Msh2'
ID 170916
Institutional Source Beutler Lab
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
MMRRC Submission 039611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R1572 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88026080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 686 (V686A)
Ref Sequence ENSEMBL: ENSMUSP00000024967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024967]
AlphaFold P43247
Predicted Effect possibly damaging
Transcript: ENSMUST00000024967
AA Change: V686A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: V686A

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: ENSMUST00000174703
SMART Domains Protein: ENSMUSP00000133488
Gene: ENSMUSG00000024151

DomainStartEndE-ValueType
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 0.2517 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 92.9%
  • 20x: 80.7%
Validation Efficiency 97% (130/134)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik G A 9: 50,651,973 (GRCm39) T85M probably damaging Het
Actn1 A G 12: 80,219,731 (GRCm39) probably benign Het
Afap1l1 A T 18: 61,870,570 (GRCm39) S603T probably damaging Het
Ahcy T C 2: 154,910,851 (GRCm39) Y39C probably benign Het
Ankmy2 T C 12: 36,236,941 (GRCm39) probably null Het
Anxa13 A T 15: 58,220,655 (GRCm39) noncoding transcript Het
Aoc1 T C 6: 48,882,720 (GRCm39) S221P possibly damaging Het
Arhgef10 C A 8: 15,041,211 (GRCm39) A770D possibly damaging Het
Arhgef19 A G 4: 140,982,065 (GRCm39) D707G probably benign Het
Arhgef3 G A 14: 27,123,692 (GRCm39) R444H probably damaging Het
Asphd1 T C 7: 126,548,271 (GRCm39) I11V probably benign Het
Atp2b1 A G 10: 98,830,537 (GRCm39) M333V probably benign Het
BC051665 T C 13: 60,932,841 (GRCm39) Y40C probably damaging Het
Ccdc87 T A 19: 4,890,341 (GRCm39) S278T probably benign Het
Ccn3 T A 15: 54,612,648 (GRCm39) M219K possibly damaging Het
Cdcp3 T A 7: 130,846,560 (GRCm39) Y777* probably null Het
Chaf1b G A 16: 93,698,118 (GRCm39) G463D possibly damaging Het
Chrna4 T C 2: 180,671,100 (GRCm39) T219A possibly damaging Het
Clcnkb T G 4: 141,134,406 (GRCm39) T584P possibly damaging Het
Clptm1l T C 13: 73,755,866 (GRCm39) S161P probably benign Het
Cmya5 T C 13: 93,230,777 (GRCm39) E1437G possibly damaging Het
Col13a1 A T 10: 61,702,205 (GRCm39) probably null Het
Col3a1 T C 1: 45,385,128 (GRCm39) S82P possibly damaging Het
Cpeb3 A T 19: 37,116,482 (GRCm39) M383K probably benign Het
Cr2 T A 1: 194,845,622 (GRCm39) H111L probably damaging Het
Cttnbp2 T C 6: 18,375,974 (GRCm39) S1522G possibly damaging Het
Cul3 T C 1: 80,260,506 (GRCm39) D281G possibly damaging Het
Cyp2c70 T G 19: 40,172,426 (GRCm39) K72T probably benign Het
Cyp39a1 A T 17: 43,991,020 (GRCm39) I110F probably damaging Het
Cyp46a1 T A 12: 108,318,198 (GRCm39) M203K probably null Het
Cyp8b1 A T 9: 121,744,024 (GRCm39) V436D possibly damaging Het
Ddx17 T C 15: 79,422,766 (GRCm39) D324G probably damaging Het
Dop1b A G 16: 93,567,041 (GRCm39) N1274S probably damaging Het
Dscaml1 G A 9: 45,632,631 (GRCm39) V1166I probably benign Het
Dsp T C 13: 38,379,714 (GRCm39) V1554A probably damaging Het
Efr3a T A 15: 65,726,641 (GRCm39) probably null Het
Egfem1 A T 3: 29,702,420 (GRCm39) N223I probably benign Het
Egr2 T C 10: 67,375,805 (GRCm39) S147P probably damaging Het
Elmo3 A G 8: 106,034,933 (GRCm39) T408A probably benign Het
Flnb A G 14: 7,883,908 (GRCm38) D378G probably damaging Het
Foxj2 T A 6: 122,810,220 (GRCm39) M193K probably benign Het
Gm6327 A G 16: 12,578,020 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,130,335 (GRCm39) H21R probably benign Het
Gpr107 A G 2: 31,057,037 (GRCm39) D43G probably damaging Het
Grid2 T A 6: 64,406,678 (GRCm39) Y679* probably null Het
Grin2c G A 11: 115,146,900 (GRCm39) P432S possibly damaging Het
H2-M10.1 A G 17: 36,636,625 (GRCm39) F60L possibly damaging Het
Hectd4 A G 5: 121,439,941 (GRCm39) D1147G possibly damaging Het
Idua G T 5: 108,828,455 (GRCm39) A223S probably benign Het
Ifi206 T C 1: 173,314,419 (GRCm39) Q7R probably benign Het
Itgad T A 7: 127,802,406 (GRCm39) V986E probably damaging Het
Itsn2 G A 12: 4,700,044 (GRCm39) R670H probably benign Het
Kdm4a T C 4: 117,996,146 (GRCm39) E961G possibly damaging Het
Klra5 T A 6: 129,883,585 (GRCm39) I91L probably damaging Het
Kntc1 A G 5: 123,910,176 (GRCm39) T525A probably damaging Het
Lct A G 1: 128,221,932 (GRCm39) F1536L probably benign Het
Lmod1 T A 1: 135,291,671 (GRCm39) D175E probably benign Het
Lonrf1 A C 8: 36,701,126 (GRCm39) D361E probably benign Het
Lrrc19 T C 4: 94,526,666 (GRCm39) Y297C probably damaging Het
Mast4 T C 13: 102,873,431 (GRCm39) E1787G possibly damaging Het
Mpp2 G A 11: 101,951,374 (GRCm39) A452V probably benign Het
Mthfd1 C T 12: 76,317,193 (GRCm39) Q15* probably null Het
Mtnr1b A T 9: 15,774,438 (GRCm39) I207N probably damaging Het
Nid2 A G 14: 19,855,480 (GRCm39) T1207A probably benign Het
Nin A T 12: 70,085,524 (GRCm39) V1569D probably damaging Het
Nrcam T A 12: 44,584,147 (GRCm39) probably benign Het
Nsd1 T A 13: 55,394,782 (GRCm39) H897Q probably damaging Het
Or10g9 A G 9: 39,912,490 (GRCm39) F11S probably benign Het
Or12d2 A T 17: 37,624,371 (GRCm39) N301K probably benign Het
Or2w2 T A 13: 21,758,480 (GRCm39) I49F possibly damaging Het
Or7d10 G T 9: 19,832,208 (GRCm39) K234N probably benign Het
Paip1 T C 13: 119,588,320 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,735,375 (GRCm39) R484* probably null Het
Pdxk A G 10: 78,283,814 (GRCm39) Y127H probably damaging Het
Phf20 T A 2: 156,129,754 (GRCm39) V442E probably benign Het
Phlpp1 G A 1: 106,320,519 (GRCm39) D1505N probably damaging Het
Pkhd1 T C 1: 20,417,664 (GRCm39) T2496A probably benign Het
Pkhd1l1 A G 15: 44,406,869 (GRCm39) T2369A probably benign Het
Plod2 T A 9: 92,485,120 (GRCm39) probably benign Het
Pnpla7 T A 2: 24,905,263 (GRCm39) M617K possibly damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkch T A 12: 73,696,131 (GRCm39) probably null Het
Prr12 G A 7: 44,678,224 (GRCm39) H1974Y unknown Het
Prr16 A G 18: 51,436,042 (GRCm39) I174V probably benign Het
Prss45 A T 9: 110,667,497 (GRCm39) T39S probably benign Het
Pum1 T A 4: 130,445,515 (GRCm39) D161E probably damaging Het
Rad51ap2 A G 12: 11,507,113 (GRCm39) D345G probably damaging Het
Ralgapb A G 2: 158,288,119 (GRCm39) probably benign Het
Rasgrp3 A G 17: 75,807,729 (GRCm39) H262R possibly damaging Het
Rnf213 T A 11: 119,327,437 (GRCm39) I1809N probably damaging Het
Ryr1 A G 7: 28,761,616 (GRCm39) L3177P probably damaging Het
Scyl2 C A 10: 89,486,818 (GRCm39) R230L probably damaging Het
Sfxn2 T C 19: 46,570,915 (GRCm39) probably benign Het
Slc18b1 T C 10: 23,674,639 (GRCm39) probably benign Het
Spata31d1d T C 13: 59,876,005 (GRCm39) H510R probably benign Het
Stab1 A T 14: 30,872,780 (GRCm39) N1109K probably damaging Het
Styxl2 C T 1: 165,927,024 (GRCm39) V863M possibly damaging Het
Sult3a2 A G 10: 33,657,973 (GRCm39) S47P probably damaging Het
Tenm3 T C 8: 48,682,028 (GRCm39) N2518S possibly damaging Het
Tex21 G T 12: 76,253,665 (GRCm39) P416Q probably benign Het
Tex38 T C 4: 115,637,503 (GRCm39) N100S probably benign Het
Thsd4 A C 9: 60,301,836 (GRCm39) probably benign Het
Ticrr T C 7: 79,331,572 (GRCm39) V723A probably damaging Het
Tmprss15 A G 16: 78,887,717 (GRCm39) V30A probably benign Het
Uba3 A G 6: 97,162,298 (GRCm39) probably benign Het
Ubr1 T C 2: 120,765,800 (GRCm39) probably benign Het
Uchl4 A T 9: 64,143,013 (GRCm39) I165L probably benign Het
Vmn2r112 A T 17: 22,822,125 (GRCm39) T268S possibly damaging Het
Wfdc3 T C 2: 164,586,114 (GRCm39) probably benign Het
Zfp282 T A 6: 47,869,801 (GRCm39) L282Q probably damaging Het
Zfp422 A T 6: 116,603,745 (GRCm39) C85S probably damaging Het
Zfp790 A T 7: 29,527,564 (GRCm39) Q83L probably benign 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
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'- AGTCAGTCGGGCGTAATCGACATC -3'
(R):5'- TGGAAGCAGTCTCCAGCATTTCAG -3'

Sequencing Primer
(F):5'- ACAGTGATGCTCCAGCTTAG -3'
(R):5'- CATTTCAGCCATGAATGTGGAGAC -3'
Posted On 2014-04-13