Incidental Mutation 'R9712:Pms2'
ID 730247
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R9712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 143909964-143933968 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143914796 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 177 (I177T)
Ref Sequence ENSEMBL: ENSMUSP00000119875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000110709] [ENSMUST00000148011] [ENSMUST00000164999]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031613
SMART Domains Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610

Pfam:AIMP2_LysRS_bd 1 44 8.3e-26 PFAM
low complexity region 133 142 N/A INTRINSIC
Pfam:GST_C_3 231 308 2.5e-10 PFAM
Pfam:GST_C 242 310 5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100483
SMART Domains Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610

low complexity region 93 102 N/A INTRINSIC
Pfam:GST_C_3 185 268 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110709
AA Change: I177T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109
AA Change: I177T

HATPase_c 30 165 3.77e-1 SMART
MutL_C 277 421 1.59e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148011
AA Change: I177T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: I177T

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 probably benign
Transcript: ENSMUST00000164999
SMART Domains Protein: ENSMUSP00000133062
Gene: ENSMUSG00000079109

DNA_mis_repair 1 70 4.47e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A T 19: 3,715,784 (GRCm38) M20L probably benign Het
9430007A20Rik C T 4: 144,528,784 (GRCm38) A258V probably benign Het
Abca8b T A 11: 109,942,337 (GRCm38) D1241V probably benign Het
Adam20 G A 8: 40,795,453 (GRCm38) R200H probably benign Het
Adcy10 T C 1: 165,513,112 (GRCm38) F229L probably damaging Het
Adsl A T 15: 80,955,639 (GRCm38) N126I probably benign Het
Ahnak GATCTCTAT GAT 19: 9,007,029 (GRCm38) probably benign Het
Ahnak AGATCTC A 19: 9,007,028 (GRCm38) probably benign Het
Aktip G A 8: 91,129,727 (GRCm38) P41S probably damaging Het
Alkbh3 C A 2: 93,980,973 (GRCm38) R258L probably damaging Het
Arfgap3 A G 15: 83,313,533 (GRCm38) Y341H probably benign Het
Arhgef26 C T 3: 62,423,613 (GRCm38) L583F probably damaging Het
Arhgef40 T C 14: 51,988,958 (GRCm38) I153T probably damaging Het
Atp1a1 T C 3: 101,591,441 (GRCm38) S179G probably benign Het
Bok T C 1: 93,686,507 (GRCm38) S21P probably damaging Het
C130060K24Rik A G 6: 65,456,140 (GRCm38) I315V probably benign Het
Ccdc136 A G 6: 29,417,442 (GRCm38) E754G probably benign Het
Cers3 A G 7: 66,773,630 (GRCm38) K108E probably benign Het
Cmya5 T C 13: 93,065,373 (GRCm38) probably null Het
Col19a1 T C 1: 24,328,067 (GRCm38) E478G possibly damaging Het
Colec10 T A 15: 54,459,784 (GRCm38) S134R possibly damaging Het
Ctnnb1 A T 9: 120,955,829 (GRCm38) I514F probably damaging Het
Cux1 C T 5: 136,309,819 (GRCm38) E664K probably benign Het
Dars T C 1: 128,405,462 (GRCm38) Q75R probably benign Het
Disp1 T A 1: 183,135,815 (GRCm38) S16C probably damaging Het
Dnah7a A T 1: 53,559,140 (GRCm38) V1412E probably benign Het
Ect2l C T 10: 18,168,434 (GRCm38) V226I probably benign Het
Ep400 T A 5: 110,756,643 (GRCm38) H30L unknown Het
Ephx4 A G 5: 107,419,781 (GRCm38) I202V probably benign Het
Exoc3 A T 13: 74,192,908 (GRCm38) F259Y probably damaging Het
Ezr T C 17: 6,752,995 (GRCm38) E229G probably damaging Het
Fat1 A T 8: 45,017,380 (GRCm38) I1472L probably benign Het
Fsd1l T G 4: 53,679,972 (GRCm38) D223E probably benign Het
Gata6 A T 18: 11,059,064 (GRCm38) D377V possibly damaging Het
Gm12185 A T 11: 48,907,389 (GRCm38) M759K probably benign Het
Gm21994 C T 2: 150,254,576 (GRCm38) R311Q probably benign Het
Gm9922 C T 14: 101,729,457 (GRCm38) A120T unknown Het
Hectd4 A T 5: 121,310,681 (GRCm38) Y364F probably benign Het
Hnrnph1 A G 11: 50,385,869 (GRCm38) S465G unknown Het
Ifi204 T C 1: 173,749,358 (GRCm38) Y559C probably damaging Het
Ift88 T C 14: 57,481,396 (GRCm38) S613P probably damaging Het
Kif21a G T 15: 90,995,512 (GRCm38) T191K probably benign Het
Kif21a G C 15: 90,985,325 (GRCm38) A441G probably damaging Het
Lrit1 T A 14: 37,060,127 (GRCm38) C252* probably null Het
Ncbp1 T A 4: 46,144,837 (GRCm38) D29E probably benign Het
Nlrp10 A T 7: 108,925,528 (GRCm38) D248E probably damaging Het
Nphp4 T G 4: 152,547,064 (GRCm38) V807G probably benign Het
Nsd1 T C 13: 55,246,043 (GRCm38) S589P possibly damaging Het
Oas1b T A 5: 120,814,485 (GRCm38) N80K probably damaging Het
Olfr1055 G A 2: 86,347,239 (GRCm38) H176Y probably benign Het
Olfr1135 A T 2: 87,671,761 (GRCm38) I202N probably benign Het
Oprk1 T A 1: 5,598,873 (GRCm38) C181S probably damaging Het
Oprl1 T A 2: 181,718,419 (GRCm38) N89K probably damaging Het
Pdcd11 A G 19: 47,129,302 (GRCm38) K1697E probably damaging Het
Pdp1 G A 4: 11,961,607 (GRCm38) H254Y probably benign Het
Pds5b A T 5: 150,805,663 (GRCm38) D1419V possibly damaging Het
Per1 G T 11: 69,100,649 (GRCm38) G3V probably benign Het
Pex16 C A 2: 92,376,643 (GRCm38) N55K probably damaging Het
Phldb2 C A 16: 45,774,977 (GRCm38) L862F probably benign Het
Pld5 T A 1: 175,964,006 (GRCm38) D478V probably benign Het
Pou1f1 A T 16: 65,529,872 (GRCm38) E119D probably benign Het
Ppp2r1a A C 17: 20,958,796 (GRCm38) E295A probably damaging Het
Rad51ap2 A T 12: 11,457,592 (GRCm38) N505I possibly damaging Het
Rasal3 A C 17: 32,396,562 (GRCm38) V434G probably damaging Het
Rasgrf2 C T 13: 91,987,973 (GRCm38) V6M Het
Rwdd1 A T 10: 34,001,156 (GRCm38) D197E Het
Scn11a A T 9: 119,790,010 (GRCm38) C755* probably null Het
Skil T C 3: 31,116,860 (GRCm38) S443P probably benign Het
Slc12a6 T C 2: 112,356,472 (GRCm38) C939R probably damaging Het
Slc25a36 A G 9: 97,079,177 (GRCm38) S269P probably benign Het
Srrm4 T A 5: 116,482,393 (GRCm38) H92L unknown Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 (GRCm38) probably benign Het
Tbc1d4 A T 14: 101,507,410 (GRCm38) V260E probably benign Het
Tbc1d8 T C 1: 39,385,232 (GRCm38) N593D probably damaging Het
Trex1 C A 9: 109,058,737 (GRCm38) R62L probably damaging Het
Trpm3 A T 19: 22,715,352 (GRCm38) D269V possibly damaging Het
Trpv4 G T 5: 114,633,150 (GRCm38) Y439* probably null Het
Ttn G A 2: 76,734,248 (GRCm38) T28515I probably damaging Het
Ucn2 G A 9: 108,986,503 (GRCm38) G111D probably damaging Het
Uhrf2 A G 19: 30,056,481 (GRCm38) I212V possibly damaging Het
Usp24 T A 4: 106,347,367 (GRCm38) M261K probably benign Het
Vmn1r235 A T 17: 21,261,698 (GRCm38) D95V probably benign Het
Vwf G A 6: 125,624,573 (GRCm38) R826Q Het
Zfp28 T C 7: 6,393,879 (GRCm38) C438R probably damaging Het
Other mutations in Pms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01893:Pms2 APN 5 143,923,519 (GRCm38) missense probably damaging 1.00
IGL02009:Pms2 APN 5 143,925,764 (GRCm38) missense probably benign 0.42
IGL02801:Pms2 APN 5 143,925,835 (GRCm38) missense probably benign 0.06
P0047:Pms2 UTSW 5 143,919,598 (GRCm38) missense probably damaging 1.00
R1367:Pms2 UTSW 5 143,925,913 (GRCm38) missense probably damaging 1.00
R1422:Pms2 UTSW 5 143,913,705 (GRCm38) missense probably damaging 1.00
R1854:Pms2 UTSW 5 143,925,896 (GRCm38) missense probably benign 0.08
R1997:Pms2 UTSW 5 143,913,700 (GRCm38) missense probably damaging 1.00
R2248:Pms2 UTSW 5 143,916,506 (GRCm38) missense probably damaging 1.00
R2873:Pms2 UTSW 5 143,911,914 (GRCm38) splice site probably benign
R4072:Pms2 UTSW 5 143,929,001 (GRCm38) missense probably damaging 0.99
R4082:Pms2 UTSW 5 143,931,019 (GRCm38) missense probably damaging 1.00
R4358:Pms2 UTSW 5 143,925,926 (GRCm38) missense probably damaging 1.00
R5100:Pms2 UTSW 5 143,928,188 (GRCm38) missense probably damaging 1.00
R5101:Pms2 UTSW 5 143,928,188 (GRCm38) missense probably damaging 1.00
R5228:Pms2 UTSW 5 143,923,597 (GRCm38) missense probably damaging 0.99
R5484:Pms2 UTSW 5 143,928,125 (GRCm38) missense probably damaging 1.00
R6310:Pms2 UTSW 5 143,923,583 (GRCm38) missense probably benign 0.06
R6331:Pms2 UTSW 5 143,914,633 (GRCm38) missense possibly damaging 0.94
R6567:Pms2 UTSW 5 143,928,968 (GRCm38) missense probably damaging 0.99
R6718:Pms2 UTSW 5 143,923,489 (GRCm38) missense probably damaging 0.98
R6747:Pms2 UTSW 5 143,925,419 (GRCm38) missense probably benign 0.02
R6980:Pms2 UTSW 5 143,912,024 (GRCm38) missense probably benign 0.21
R7207:Pms2 UTSW 5 143,913,634 (GRCm38) missense probably damaging 1.00
R7349:Pms2 UTSW 5 143,925,836 (GRCm38) missense probably benign 0.11
R7657:Pms2 UTSW 5 143,919,539 (GRCm38) missense possibly damaging 0.93
R7820:Pms2 UTSW 5 143,914,633 (GRCm38) missense possibly damaging 0.80
R7980:Pms2 UTSW 5 143,931,091 (GRCm38) missense probably damaging 1.00
R8213:Pms2 UTSW 5 143,914,771 (GRCm38) missense probably damaging 1.00
R8534:Pms2 UTSW 5 143,923,627 (GRCm38) missense probably benign 0.16
R9021:Pms2 UTSW 5 143,925,926 (GRCm38) missense probably damaging 1.00
R9218:Pms2 UTSW 5 143,931,127 (GRCm38) missense probably benign
R9494:Pms2 UTSW 5 143,916,396 (GRCm38) missense probably damaging 1.00
R9614:Pms2 UTSW 5 143,917,602 (GRCm38) missense probably benign 0.01
X0064:Pms2 UTSW 5 143,916,466 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06