|Institutional Source||Beutler Lab|
|Gene Name||mutS homolog 2|
|Is this an essential gene?||Probably essential (E-score: 0.863)|
|Stock #||R0520 (G1)|
|Chromosomal Location||87672330-87723713 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 87717544 bp|
|Amino Acid Change||Valine to Phenylalanine at position 617 (V617F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024967 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024967]|
|Predicted Effect||possibly damaging
AA Change: V617F
PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V617F
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1147|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
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||
|Other mutations in Msh2||
(F):5'- ACCCCATGTTGAGGTTCAAGGC -3'
(R):5'- ATTTTCCAAGTCCTGGCTCTGGTG -3'
(F):5'- ACGGCCTTGAGCTAAGTCTA -3'
(R):5'- GTCAGGATCTGAATGTATGACCAAC -3'