Incidental Mutation 'R4589:Msh2'
ID 342711
Institutional Source Beutler Lab
Gene Symbol Msh2
Ensembl Gene ENSMUSG00000024151
Gene Name mutS homolog 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R4589 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87979960-88031141 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87987460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 200 (V200D)
Ref Sequence ENSEMBL: ENSMUSP00000024967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024967]
AlphaFold P43247
Predicted Effect possibly damaging
Transcript: ENSMUST00000024967
AA Change: V200D

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: V200D

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,211,895 (GRCm39) V157L probably benign Het
Actn1 G A 12: 80,218,573 (GRCm39) T737I possibly damaging Het
Ada T C 2: 163,574,868 (GRCm39) K90E possibly damaging Het
Ap2b1 T A 11: 83,223,837 (GRCm39) L184* probably null Het
Arfgef3 T C 10: 18,521,947 (GRCm39) D693G probably damaging Het
Arid4a A T 12: 71,116,738 (GRCm39) I277F probably damaging Het
Armh4 A G 14: 50,011,039 (GRCm39) S223P probably damaging Het
Ccdc171 A G 4: 83,467,855 (GRCm39) S67G probably benign Het
Ccr5 T A 9: 123,924,539 (GRCm39) F47L probably benign Het
Clip4 T A 17: 72,117,862 (GRCm39) C302* probably null Het
Cyth1 C T 11: 118,075,811 (GRCm39) V142I possibly damaging Het
Ddx59 T A 1: 136,367,480 (GRCm39) probably null Het
Def6 G T 17: 28,447,121 (GRCm39) R584L probably benign Het
Dnah7c C A 1: 46,553,743 (GRCm39) Y340* probably null Het
Eif2ak4 T G 2: 118,247,819 (GRCm39) C173W probably damaging Het
Gm14403 C T 2: 177,200,428 (GRCm39) H125Y probably benign Het
Grk3 T C 5: 113,089,584 (GRCm39) I323V possibly damaging Het
Homez G T 14: 55,094,487 (GRCm39) T407K probably damaging Het
Igdcc4 A G 9: 65,037,910 (GRCm39) T763A probably damaging Het
Ighg2b A T 12: 113,270,104 (GRCm39) W305R unknown Het
Il27ra G T 8: 84,763,038 (GRCm39) N296K probably damaging Het
Lzic G T 4: 149,572,561 (GRCm39) L50F probably damaging Het
Mbtd1 T C 11: 93,812,245 (GRCm39) V183A probably damaging Het
Mme T A 3: 63,287,693 (GRCm39) D731E probably benign Het
Mocos T C 18: 24,787,095 (GRCm39) L38P probably damaging Het
Mrps18a T C 17: 46,428,899 (GRCm39) probably null Het
Mug1 A T 6: 121,834,310 (GRCm39) I364F probably benign Het
Mycbp2 G T 14: 103,414,749 (GRCm39) S2554R probably benign Het
Nat10 A G 2: 103,584,415 (GRCm39) C121R probably damaging Het
Nfatc3 T A 8: 106,805,705 (GRCm39) D183E probably damaging Het
Odr4 C T 1: 150,260,238 (GRCm39) V127I probably benign Het
Or4d10c T C 19: 12,065,305 (GRCm39) I284V possibly damaging Het
Or51ac3 A T 7: 103,213,639 (GRCm39) F282L probably damaging Het
Or52h1 C A 7: 103,828,636 (GRCm39) probably null Het
Or5d14 T C 2: 87,880,823 (GRCm39) I48M probably benign Het
Pak6 T A 2: 118,527,021 (GRCm39) I672K probably damaging Het
Pan3 A T 5: 147,479,983 (GRCm39) I830F probably damaging Het
Pcdh9 A T 14: 94,125,628 (GRCm39) L181I probably damaging Het
Pigg G A 5: 108,480,556 (GRCm39) A447T probably benign Het
Pitpnb T A 5: 111,519,214 (GRCm39) S165T probably damaging Het
Pla2g2a A G 4: 138,560,590 (GRCm39) Y67C probably damaging Het
Plch1 A G 3: 63,688,928 (GRCm39) I80T probably damaging Het
Pnma1 A G 12: 84,194,235 (GRCm39) I156T probably benign Het
Prss21 G T 17: 24,091,796 (GRCm39) D255Y possibly damaging Het
Prune1 T A 3: 95,169,642 (GRCm39) I187F possibly damaging Het
Rab7b T C 1: 131,633,385 (GRCm39) F78L probably benign Het
Riok3 T A 18: 12,269,844 (GRCm39) Y92N probably benign Het
Rpap2 T C 5: 107,768,361 (GRCm39) S400P probably benign Het
Ryr3 C A 2: 112,705,478 (GRCm39) G792V probably damaging Het
Septin3 A G 15: 82,170,092 (GRCm39) E206G probably damaging Het
Stkld1 T C 2: 26,840,679 (GRCm39) S454P probably damaging Het
Tdh A T 14: 63,733,326 (GRCm39) L140Q probably damaging Het
Tex15 T A 8: 34,047,401 (GRCm39) H159Q probably damaging Het
Tmed6 C T 8: 107,790,793 (GRCm39) V85I probably benign Het
Vmn1r174 T A 7: 23,454,204 (GRCm39) L290* probably null Het
Vmn1r31 A G 6: 58,449,596 (GRCm39) S90P probably damaging Het
Vmn2r55 T C 7: 12,404,822 (GRCm39) T194A probably damaging Het
Vmn2r82 A T 10: 79,192,548 (GRCm39) I42F probably damaging Het
Vps35 G A 8: 86,014,331 (GRCm39) P106L probably damaging Het
Xrcc6 T A 15: 81,906,661 (GRCm39) Y69N probably damaging Het
Zbtb14 C T 17: 69,695,465 (GRCm39) P388S probably damaging Het
Zfp541 C T 7: 15,817,261 (GRCm39) A902V 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
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
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'- CAGCTTCCGTTGGCGTTATG -3'
(R):5'- TCATCAGCTGGAACCACAG -3'

Sequencing Primer
(F):5'- GCGTTATGGGTATTAAAATGGCC -3'
(R):5'- TAGCATCCAGAGCTCAGTGC -3'
Posted On 2015-09-24