Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Pms2'

224316

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

040007-MU

Accession Numbers

Essential gene?

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

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143846782-143870786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143850518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 111 (L111P)

Ref Sequence

ENSEMBL: ENSMUSP00000119875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000110709] [ENSMUST00000148011]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031613

SMART Domains

Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	93	102	N/A	INTRINSIC
Pfam:GST_C_3	185	268	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110707

Predicted Effect

probably damaging
Transcript: ENSMUST00000110709
AA Change: L111P

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

SMART Domains

Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109
AA Change: L111P

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: ENSMUST00000128153

Predicted Effect

probably damaging
Transcript: ENSMUST00000148011
AA Change: L111P

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

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: L111P

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

noncoding transcript
Transcript: ENSMUST00000128440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154781

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,005 (GRCm39)	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca17	A	G	17: 24,504,700 (GRCm39)	I1233T	probably benign	Het
Acin1	T	C	14: 54,884,156 (GRCm39)		probably null	Het
Acly	A	T	11: 100,409,977 (GRCm39)	I185N	probably damaging	Het
Adamts16	T	C	13: 70,901,386 (GRCm39)	D897G	probably benign	Het
Allc	A	C	12: 28,613,482 (GRCm39)	D153E	probably benign	Het
Ankrd12	A	G	17: 66,291,879 (GRCm39)	S1185P	probably damaging	Het
Aoc1l2	A	T	6: 48,909,363 (GRCm39)	Q536L	probably damaging	Het
Ap1g2	T	C	14: 55,339,835 (GRCm39)	E448G	probably benign	Het
Atg9a	A	T	1: 75,166,270 (GRCm39)	V50D	probably benign	Het
Bace2	A	T	16: 97,216,289 (GRCm39)	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,199,283 (GRCm39)	K708E	probably damaging	Het
Card10	G	A	15: 78,678,175 (GRCm39)	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,547,271 (GRCm39)	V39E	probably damaging	Het
Cdh20	A	T	1: 109,976,668 (GRCm39)	D111V	probably damaging	Het
Cercam	C	A	2: 29,762,935 (GRCm39)	T223K	probably benign	Het
Cimip2a	T	G	2: 25,110,217 (GRCm39)	L43R	probably damaging	Het
Cog5	A	G	12: 31,710,848 (GRCm39)	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,779,446 (GRCm39)	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 26,857,038 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,630,254 (GRCm39)	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,710,672 (GRCm39)	V287A	probably benign	Het
Dennd4c	A	G	4: 86,755,634 (GRCm39)	T1609A	probably benign	Het
Depdc5	T	A	5: 33,059,250 (GRCm39)		probably null	Het
Dhcr7	T	G	7: 143,401,167 (GRCm39)	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680 (GRCm39)	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,046,203 (GRCm39)	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,181,281 (GRCm39)	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,129,005 (GRCm39)	L205P	probably damaging	Het
Fam91a1	A	G	15: 58,296,044 (GRCm39)		probably null	Het
Fank1	C	T	7: 133,463,954 (GRCm39)	T50I	probably damaging	Het
Fhod3	A	G	18: 25,223,473 (GRCm39)	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,306,841 (GRCm39)	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502 (GRCm39)	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,751,387 (GRCm39)	L138I	probably damaging	Het
Gm2832	T	A	14: 41,002,943 (GRCm39)		probably null	Het
Gm5084	T	A	13: 60,360,344 (GRCm39)		noncoding transcript	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241 (GRCm39)	S39P	probably damaging	Het
Hesx1	A	T	14: 26,723,340 (GRCm39)	N57Y	probably damaging	Het
Kcnh1	G	A	1: 191,959,243 (GRCm39)	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904 (GRCm39)	T1168A	possibly damaging	Het
Kng2	A	T	16: 22,843,626 (GRCm39)	F118I	possibly damaging	Het
Lig3	C	T	11: 82,678,492 (GRCm39)	P245S	probably benign	Het
Loxhd1	G	T	18: 77,383,465 (GRCm39)	W121C	probably damaging	Het
Ltn1	A	G	16: 87,178,525 (GRCm39)	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,473,882 (GRCm39)		probably null	Het
Mcm10	C	T	2: 4,998,571 (GRCm39)	V790M	probably damaging	Het
Mia3	A	T	1: 183,125,707 (GRCm39)	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,288,405 (GRCm39)	K150N	probably damaging	Het
Morn4	T	C	19: 42,064,977 (GRCm39)	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,037,195 (GRCm39)		probably null	Het
Myocd	G	A	11: 65,095,147 (GRCm39)	Q47*	probably null	Het
Nav2	T	A	7: 49,198,219 (GRCm39)	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,461,266 (GRCm39)	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003 (GRCm38)	G67V	probably benign	Het
Nlgn2	A	C	11: 69,718,876 (GRCm39)	V271G	probably damaging	Het
Or1o2	A	G	17: 37,542,523 (GRCm39)	V246A	probably damaging	Het
Or2l5	A	C	16: 19,333,792 (GRCm39)	V198G	probably damaging	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Per2	T	C	1: 91,368,581 (GRCm39)	E264G	probably damaging	Het
Phf2	A	G	13: 48,982,384 (GRCm39)	L113P	unknown	Het
Piwil2	A	G	14: 70,664,107 (GRCm39)	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Polg	A	G	7: 79,108,979 (GRCm39)	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,774,093 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,778,671 (GRCm39)	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Prkar2b	A	G	12: 32,013,934 (GRCm39)	V314A	probably damaging	Het
Proser1	T	A	3: 53,386,292 (GRCm39)	S725T	probably benign	Het
Psg20	A	G	7: 18,416,535 (GRCm39)	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,496 (GRCm39)	I2255V	probably damaging	Het
Sardh	T	G	2: 27,134,409 (GRCm39)	T36P	probably damaging	Het
Sec23a	T	A	12: 59,048,793 (GRCm39)	I110L	probably benign	Het
Slc22a29	T	A	19: 8,195,162 (GRCm39)	I158L	probably benign	Het
Slc35c1	T	C	2: 92,284,984 (GRCm39)	D210G	probably benign	Het
Syde2	A	G	3: 145,704,746 (GRCm39)	N566S	probably benign	Het
Tcf20	G	A	15: 82,741,431 (GRCm39)	Q7*	probably null	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,192,350 (GRCm39)	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,420,973 (GRCm39)	Y29C	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Uaca	A	G	9: 60,777,623 (GRCm39)	E668G	probably damaging	Het
Ube2o	T	A	11: 116,436,163 (GRCm39)	E326V	probably damaging	Het
Ubr1	C	T	2: 120,776,754 (GRCm39)		probably null	Het
Vmn1r19	T	A	6: 57,382,033 (GRCm39)	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,292,880 (GRCm39)	D307E	probably damaging	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Zan	A	T	5: 137,401,376 (GRCm39)	C4114*	probably null	Het
Zbed6	A	G	1: 133,584,451 (GRCm39)	L962P	probably damaging	Het
Zdhhc23	A	T	16: 43,799,305 (GRCm39)	C37S	probably damaging	Het
Zfp628	G	T	7: 4,921,831 (GRCm39)	G18W	probably damaging	Het
Zfp712	T	A	13: 67,190,114 (GRCm39)	K138*	probably null	Het
Zfp867	A	T	11: 59,354,417 (GRCm39)	V304D	probably damaging	Het
Zfp870	T	C	17: 33,103,027 (GRCm39)	T102A	possibly damaging	Het
Zmym5	G	A	14: 57,035,210 (GRCm39)	S286L	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGTGTCTCAGATGTTTGAGTAAC -3'
(R):5'- GACAGGCGGTGACTTTTGTAC -3'

Sequencing Primer
(F):5'- TTGAGTAACACTGTCTTACACCACG -3'
(R):5'- CAGGCGGTGACTTTTGTACAACATG -3'

Posted On

2014-08-25