Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Pms2'

560694

Institutional Source

Beutler Lab

Gene Symbol

Pms2

Ensembl Gene

ENSMUSG00000079109

Gene Name

PMS1 homolog2, mismatch repair system component

Synonyms

mismatch repair, DNA mismatch repair

Accession Numbers

Essential gene?

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

Stock #

R7207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143846782-143870786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143850452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

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

probably damaging
Transcript: ENSMUST00000110709
AA Change: T89I

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

SMART Domains

Protein: ENSMUSP00000106337
Gene: ENSMUSG00000079109
AA Change: T89I

Domain	Start	End	E-Value	Type
HATPase_c	30	165	3.77e-1	SMART
MutL_C	277	421	1.59e-36	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148011
AA Change: T89I

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

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: T89I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Agap1	A	T	1: 89,770,821 (GRCm39)	H657L	possibly damaging	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Harbi1	T	C	2: 91,542,790 (GRCm39)	S84P	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sgms1	T	A	19: 32,120,147 (GRCm39)	K253M	probably null	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sorbs3	T	C	14: 70,438,934 (GRCm39)	K142R	probably damaging	Het
Sphk1	A	T	11: 116,426,590 (GRCm39)	D182V	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	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
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
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'- GATCTAAGGCTTAAAGACTATGGGG -3'
(R):5'- AGCATAAACCACGAGGGCTC -3'

Sequencing Primer
(F):5'- CTTAAAGACTATGGGGTGGACCTC -3'
(R):5'- ACCACGAGGGCTCTCATCATG -3'

Posted On

2019-06-26