Mutagenetix > Incidental Mutation

Incidental Mutation 'P0047:Pms2'

7756

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

038294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

P0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

143846782-143870786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143856416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 7 (D7G)

Ref Sequence

ENSEMBL: ENSMUSP00000133062 (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 benign
Transcript: ENSMUST00000110709

SMART Domains

Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109

Domain	Start	End	E-Value	Type
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: ENSMUST00000141942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147910

Predicted Effect

probably damaging
Transcript: ENSMUST00000148011
AA Change: D298G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: D298G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000164999
AA Change: D7G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133062
Gene: ENSMUSG00000079109
AA Change: D7G

Domain	Start	End	E-Value	Type
DNA_mis_repair	1	70	4.47e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168085

Meta Mutation Damage Score

0.3484

Coding Region Coverage

1x: 81.2%
3x: 73.1%
10x: 47.2%
20x: 24.0%

Validation Efficiency

83% (73/88)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap20	T	C	9: 51,760,536 (GRCm39)	S760P	probably damaging	Het
Cenatac	T	A	9: 44,324,506 (GRCm39)		probably benign	Het
Defa22	C	A	8: 21,653,102 (GRCm39)	C71*	probably null	Het
Fanci	A	G	7: 79,093,792 (GRCm39)	D1048G	probably damaging	Het
Kmt5b	T	A	19: 3,843,223 (GRCm39)		probably benign	Het
Nol8	T	A	13: 49,807,824 (GRCm39)		probably null	Het
Nvl	T	C	1: 180,939,867 (GRCm39)	T628A	probably damaging	Het
Pgm5	T	A	19: 24,793,785 (GRCm39)	D293V	probably damaging	Het
Srrm3	G	A	5: 135,881,780 (GRCm39)		probably null	Het
Stradb	G	A	1: 59,028,957 (GRCm39)	G142S	probably null	Het
Txndc11	C	T	16: 10,909,661 (GRCm39)		probably benign	Het

Other mutations in Pms2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R2248:Pms2	UTSW	5	143,853,324 (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

Posted On

2012-10-29