Incidental Mutation 'IGL02243:Msh2'
ID 286081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # IGL02243
Quality Score
Status
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 87985796 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

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
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q 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
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
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 2015-04-16