Incidental Mutation 'R2248:Pms2'
ID 240945
Institutional Source Beutler Lab
Gene Symbol Pms2
Ensembl Gene ENSMUSG00000079109
Gene Name PMS1 homolog2, mismatch repair system component
Synonyms mismatch repair, DNA mismatch repair
MMRRC Submission 040248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R2248 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 143846782-143870786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143853324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 230 (V230M)
Ref Sequence ENSEMBL: ENSMUSP00000119875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110709] [ENSMUST00000148011] [ENSMUST00000164999]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110707
Predicted Effect probably damaging
Transcript: ENSMUST00000110709
AA Change: V230M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109
AA Change: V230M

DomainStartEndE-ValueType
HATPase_c 30 165 3.77e-1 SMART
MutL_C 277 421 1.59e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128207
Predicted Effect probably damaging
Transcript: ENSMUST00000148011
AA Change: V230M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: V230M

DomainStartEndE-ValueType
HATPase_c 30 165 3.77e-1 SMART
DNA_mis_repair 227 364 4.76e-41 SMART
MutL_C 675 819 1.59e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147910
Predicted Effect probably benign
Transcript: ENSMUST00000164999
SMART Domains Protein: ENSMUSP00000133062
Gene: ENSMUSG00000079109

DomainStartEndE-ValueType
DNA_mis_repair 1 70 4.47e-2 SMART
Meta Mutation Damage Score 0.0872 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit microsatellite instability and develop a high incidence of lymphomas with some sarcomas after 6 months of age. Mutant males are sterile, with impaired synapsis and only abnormal spermatozoa. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,323,476 (GRCm39) probably benign Het
Afp A G 5: 90,649,429 (GRCm39) D332G probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aldh1a2 A T 9: 71,123,144 (GRCm39) I6F possibly damaging Het
Alg6 C T 4: 99,626,444 (GRCm39) A84V probably damaging Het
Ank T A 15: 27,562,797 (GRCm39) probably null Het
Ano5 A T 7: 51,243,537 (GRCm39) M837L probably benign Het
Arl8b A G 6: 108,760,304 (GRCm39) Y30C probably benign Het
Bfsp1 A T 2: 143,669,572 (GRCm39) probably null Het
Cdhr1 C G 14: 36,803,334 (GRCm39) V581L probably benign Het
Chst8 G T 7: 34,447,597 (GRCm39) T7K probably damaging Het
Clca3b T C 3: 144,530,980 (GRCm39) K790R probably benign Het
Clta A G 4: 44,012,852 (GRCm39) N21D probably damaging Het
Col6a4 T G 9: 105,957,158 (GRCm39) E222A probably benign Het
Dcc G T 18: 71,959,239 (GRCm39) Q178K probably benign Het
Dpysl3 T C 18: 43,491,358 (GRCm39) D140G possibly damaging Het
Dthd1 A T 5: 63,007,243 (GRCm39) D648V probably damaging Het
Eva1c A G 16: 90,628,213 (GRCm39) N18S probably benign Het
Flnc A G 6: 29,451,400 (GRCm39) H1538R probably damaging Het
Foxn3 T C 12: 99,162,815 (GRCm39) E362G probably benign Het
Frk C A 10: 34,484,527 (GRCm39) T500K probably benign Het
Glipr1l1 A G 10: 111,898,192 (GRCm39) E99G probably benign Het
Gphn T C 12: 78,501,595 (GRCm39) L120P probably damaging Het
Gpr152 T C 19: 4,193,805 (GRCm39) S449P probably benign Het
Greb1 T A 12: 16,730,379 (GRCm39) I1655F possibly damaging Het
Hectd1 G T 12: 51,853,254 (GRCm39) T89N probably damaging Het
Helz2 A C 2: 180,875,226 (GRCm39) I1756S probably benign Het
Hydin G T 8: 111,304,835 (GRCm39) R3825L probably benign Het
Ifi207 G A 1: 173,564,036 (GRCm39) probably benign Het
Itpr3 A T 17: 27,334,033 (GRCm39) E2035V probably damaging Het
Khnyn T A 14: 56,124,195 (GRCm39) S150T probably benign Het
Kif21b T C 1: 136,100,704 (GRCm39) I1595T probably damaging Het
Lgsn A T 1: 31,242,607 (GRCm39) T230S possibly damaging Het
Limch1 G T 5: 67,201,742 (GRCm39) G838V probably damaging Het
Lrp2 T A 2: 69,341,354 (GRCm39) D942V probably damaging Het
Lrrc31 T A 3: 30,744,050 (GRCm39) T153S possibly damaging Het
Mal2 T A 15: 54,451,732 (GRCm39) I51N probably damaging Het
Matcap2 A G 9: 22,355,410 (GRCm39) T482A probably benign Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mycbp2 T A 14: 103,407,295 (GRCm39) Q385L possibly damaging Het
Nav3 T A 10: 109,532,088 (GRCm39) D2117V probably damaging Het
Ntn1 T C 11: 68,168,398 (GRCm39) N353S possibly damaging Het
Oas1c T C 5: 120,940,926 (GRCm39) E289G possibly damaging Het
Or2m13 A G 16: 19,225,944 (GRCm39) V274A probably damaging Het
Or4a81 C A 2: 89,619,524 (GRCm39) M57I possibly damaging Het
Or5w17 T C 2: 87,584,287 (GRCm39) I17V probably null Het
Plk1 A G 7: 121,768,044 (GRCm39) probably benign Het
Pole3 C A 4: 62,443,250 (GRCm39) probably benign Het
Ppp2r5c T C 12: 110,452,357 (GRCm39) F22S probably benign Het
Prp2rt C A 13: 97,235,406 (GRCm39) V114F possibly damaging Het
Ptcd3 A T 6: 71,871,269 (GRCm39) probably null Het
Ptprq A T 10: 107,478,931 (GRCm39) probably null Het
Rab18 T A 18: 6,788,629 (GRCm39) C199S probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Sacs A G 14: 61,450,251 (GRCm39) N4099S probably damaging Het
Sh3yl1 T A 12: 30,992,869 (GRCm39) probably null Het
Slco1c1 T A 6: 141,492,415 (GRCm39) I217N probably damaging Het
Syne2 C T 12: 76,143,678 (GRCm39) T6241I probably damaging Het
Tas2r119 T C 15: 32,178,297 (GRCm39) F288L possibly damaging Het
Tmod2 G T 9: 75,499,931 (GRCm39) T107N probably benign Het
Trappc6b T C 12: 59,097,167 (GRCm39) T52A probably damaging Het
Tsen54 A G 11: 115,706,232 (GRCm39) E122G probably damaging Het
Tspear A G 10: 77,709,103 (GRCm39) N443S probably damaging Het
Unc80 A G 1: 66,662,365 (GRCm39) probably benign Het
Virma T A 4: 11,518,927 (GRCm39) Y725N probably damaging Het
Vwa7 G A 17: 35,238,019 (GRCm39) D207N probably benign Het
Other mutations in Pms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Pms2 APN 5 143,860,337 (GRCm39) missense probably damaging 1.00
IGL02009:Pms2 APN 5 143,862,582 (GRCm39) missense probably benign 0.42
IGL02801:Pms2 APN 5 143,862,653 (GRCm39) missense probably benign 0.06
P0047:Pms2 UTSW 5 143,856,416 (GRCm39) missense probably damaging 1.00
R1367:Pms2 UTSW 5 143,862,731 (GRCm39) missense probably damaging 1.00
R1422:Pms2 UTSW 5 143,850,523 (GRCm39) missense probably damaging 1.00
R1854:Pms2 UTSW 5 143,862,714 (GRCm39) missense probably benign 0.08
R1997:Pms2 UTSW 5 143,850,518 (GRCm39) missense probably damaging 1.00
R2873:Pms2 UTSW 5 143,848,732 (GRCm39) splice site probably benign
R4072:Pms2 UTSW 5 143,865,819 (GRCm39) missense probably damaging 0.99
R4082:Pms2 UTSW 5 143,867,837 (GRCm39) missense probably damaging 1.00
R4358:Pms2 UTSW 5 143,862,744 (GRCm39) missense probably damaging 1.00
R5100:Pms2 UTSW 5 143,865,006 (GRCm39) missense probably damaging 1.00
R5101:Pms2 UTSW 5 143,865,006 (GRCm39) missense probably damaging 1.00
R5228:Pms2 UTSW 5 143,860,415 (GRCm39) missense probably damaging 0.99
R5484:Pms2 UTSW 5 143,864,943 (GRCm39) missense probably damaging 1.00
R6310:Pms2 UTSW 5 143,860,401 (GRCm39) missense probably benign 0.06
R6331:Pms2 UTSW 5 143,851,451 (GRCm39) missense possibly damaging 0.94
R6567:Pms2 UTSW 5 143,865,786 (GRCm39) missense probably damaging 0.99
R6718:Pms2 UTSW 5 143,860,307 (GRCm39) missense probably damaging 0.98
R6747:Pms2 UTSW 5 143,862,237 (GRCm39) missense probably benign 0.02
R6980:Pms2 UTSW 5 143,848,842 (GRCm39) missense probably benign 0.21
R7207:Pms2 UTSW 5 143,850,452 (GRCm39) missense probably damaging 1.00
R7349:Pms2 UTSW 5 143,862,654 (GRCm39) missense probably benign 0.11
R7657:Pms2 UTSW 5 143,856,357 (GRCm39) missense possibly damaging 0.93
R7820:Pms2 UTSW 5 143,851,451 (GRCm39) missense possibly damaging 0.80
R7980:Pms2 UTSW 5 143,867,909 (GRCm39) missense probably damaging 1.00
R8213:Pms2 UTSW 5 143,851,589 (GRCm39) missense probably damaging 1.00
R8534:Pms2 UTSW 5 143,860,445 (GRCm39) missense probably benign 0.16
R9021:Pms2 UTSW 5 143,862,744 (GRCm39) missense probably damaging 1.00
R9218:Pms2 UTSW 5 143,867,945 (GRCm39) missense probably benign
R9494:Pms2 UTSW 5 143,853,214 (GRCm39) missense probably damaging 1.00
R9614:Pms2 UTSW 5 143,854,420 (GRCm39) missense probably benign 0.01
R9712:Pms2 UTSW 5 143,851,614 (GRCm39) missense probably damaging 0.99
X0064:Pms2 UTSW 5 143,853,284 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCATGCAGTTCCTGTAAGATC -3'
(R):5'- CTTCTCAGGGGCTAAAGAGAC -3'

Sequencing Primer
(F):5'- GCAGTTCCTGTAAGATCAAAGTAATC -3'
(R):5'- CAGTACTCATGTCAGGTGCTCAG -3'
Posted On 2014-10-15