Incidental Mutation 'R5048:Msh2'
ID 452836
Institutional Source Beutler Lab
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
MMRRC Submission 042638-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R5048 (G1)
Quality Score 23
Status Validated
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87980196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 58 (F58S)
Ref Sequence ENSEMBL: ENSMUSP00000024967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024967]
AlphaFold P43247
Predicted Effect probably damaging
Transcript: ENSMUST00000024967
AA Change: F58S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: F58S

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 unknown
Transcript: ENSMUST00000172855
AA Change: F53S
SMART Domains Protein: ENSMUSP00000133650
Gene: ENSMUSG00000024151
AA Change: F53S

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 0.5394 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.1%
Validation Efficiency 98% (64/65)
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
Abcb11 T C 2: 69,138,850 (GRCm39) I144V probably benign Het
Abhd5 T C 9: 122,206,968 (GRCm39) Y85H probably damaging Het
Acadsb G A 7: 131,039,198 (GRCm39) G323D probably damaging Het
Amotl2 A G 9: 102,600,997 (GRCm39) R322G probably benign Het
Aox1 A T 1: 58,098,641 (GRCm39) probably benign Het
Aste1 C T 9: 105,274,188 (GRCm39) R82W probably damaging Het
Atg4b T C 1: 93,703,380 (GRCm39) I139T possibly damaging Het
Btnl5-ps T A 17: 34,707,697 (GRCm39) noncoding transcript Het
Ccdc85c A G 12: 108,187,966 (GRCm39) probably null Het
Clasp1 A G 1: 118,475,340 (GRCm39) probably benign Het
Defb10 G A 8: 22,351,887 (GRCm39) C44Y probably damaging Het
Dhrs9 T C 2: 69,224,744 (GRCm39) V144A probably damaging Het
Dnhd1 G C 7: 105,342,904 (GRCm39) S1416T probably benign Het
Dok1 T A 6: 83,009,087 (GRCm39) probably benign Het
Emilin2 G A 17: 71,580,962 (GRCm39) T588M probably damaging Het
Fam181b A G 7: 92,729,147 (GRCm39) probably benign Het
Fhad1 T C 4: 141,691,987 (GRCm39) probably null Het
Foxi2 A G 7: 135,013,364 (GRCm39) E198G probably damaging Het
Fsip2 C A 2: 82,823,494 (GRCm39) A6409E probably damaging Het
Gje1 T C 10: 14,593,021 (GRCm39) Y65C probably damaging Het
Gm6401 T C 14: 41,789,724 (GRCm39) probably null Het
Gprc5c T C 11: 114,761,177 (GRCm39) *442Q probably null Het
Iars1 T A 13: 49,841,713 (GRCm39) I67N probably damaging Het
Igkv4-79 T C 6: 69,019,971 (GRCm39) S115G probably benign Het
Itga4 C A 2: 79,103,378 (GRCm39) S156R probably benign Het
Lilra6 C T 7: 3,918,440 (GRCm39) probably null Het
Majin C A 19: 6,272,684 (GRCm39) A208E probably benign Het
Megf8 A G 7: 25,030,517 (GRCm39) Q490R possibly damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mgarp G A 3: 51,298,707 (GRCm39) R88C probably damaging Het
Nemp1 T C 10: 127,526,804 (GRCm39) probably null Het
Nlrp10 A T 7: 108,523,772 (GRCm39) N569K probably benign Het
Nxpe2 T C 9: 48,237,388 (GRCm39) probably null Het
Or4c106 T C 2: 88,682,807 (GRCm39) V171A possibly damaging Het
Or5w16 C A 2: 87,576,663 (GRCm39) A41E probably benign Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pigb T A 9: 72,936,990 (GRCm39) probably null Het
Pitpnb T C 5: 111,530,869 (GRCm39) F221L possibly damaging Het
Prox2 A T 12: 85,141,115 (GRCm39) W363R probably damaging Het
Psmg1 T A 16: 95,785,171 (GRCm39) R139S probably benign Het
Rab11fip3 A G 17: 26,286,554 (GRCm39) probably null Het
Samd9l G A 6: 3,374,157 (GRCm39) R1035C probably benign Het
Shkbp1 G A 7: 27,051,521 (GRCm39) probably benign Het
Slc30a5 C A 13: 100,943,249 (GRCm39) L536F probably damaging Het
Slc6a17 A T 3: 107,378,753 (GRCm39) L643* probably null Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stoml3 A C 3: 53,408,213 (GRCm39) K86N possibly damaging Het
Tmtc1 A T 6: 148,139,344 (GRCm39) L926Q possibly damaging Het
Tns4 T G 11: 98,969,605 (GRCm39) R285S possibly damaging Het
Uncx C T 5: 139,532,874 (GRCm39) T313M probably benign Het
Vmn2r75 G A 7: 85,814,735 (GRCm39) R253C possibly damaging Het
Zbed6 T C 1: 133,586,462 (GRCm39) S292G probably damaging Het
Zfp143 A G 7: 109,673,325 (GRCm39) T142A probably damaging Het
Zfp287 T C 11: 62,605,777 (GRCm39) K366E 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
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'- CGCTTATGATTGGCTACTGCG -3'
(R):5'- AAGATGCTAAACGCGTGGC -3'

Sequencing Primer
(F):5'- TACTGCGGTAGACTCCCAC -3'
(R):5'- TGCATGCGCCCAGGTTT -3'
Posted On 2017-01-17