Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Pms2'

205911

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

039878-MU

Accession Numbers

Essential gene?

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

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143846782-143870786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143862714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 607 (K607I)

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 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

probably benign
Transcript: ENSMUST00000148011
AA Change: K607I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119875
Gene: ENSMUSG00000079109
AA Change: K607I

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 benign
Transcript: ENSMUST00000164999

SMART Domains

Protein: ENSMUSP00000133062
Gene: ENSMUSG00000079109

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

probably benign
Transcript: ENSMUST00000172367

SMART Domains

Protein: ENSMUSP00000132104
Gene: ENSMUSG00000104633

Domain	Start	End	E-Value	Type
MutL_C	5	139	1.78e-1	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,504,668 (GRCm39)	R43K	possibly damaging	Het
Acp1	A	G	12: 30,947,804 (GRCm39)	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,876,365 (GRCm39)	D417E	probably benign	Het
Agap2	G	A	10: 126,916,385 (GRCm39)	V299I	unknown	Het
Ahnak	C	T	19: 8,991,196 (GRCm39)	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,517,810 (GRCm39)	E278G	probably damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,302,461 (GRCm39)	E928G	probably benign	Het
Atp2b2	A	C	6: 113,819,244 (GRCm39)	N16K	probably damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,327,030 (GRCm39)	G236S	probably benign	Het
Ccar1	A	T	10: 62,600,296 (GRCm39)	I545N	probably damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,370,837 (GRCm39)	H1310L	possibly damaging	Het
Ces1h	T	C	8: 94,085,450 (GRCm39)	K339E	probably benign	Het
Cfap91	T	C	16: 38,144,659 (GRCm39)		probably null	Het
Cit	A	G	5: 116,011,960 (GRCm39)	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Cntrl	A	G	2: 35,012,696 (GRCm39)	D278G	probably damaging	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,557,783 (GRCm39)	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,450,646 (GRCm39)	Q95L	probably damaging	Het
Cpd	G	T	11: 76,677,164 (GRCm39)	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,542,309 (GRCm39)	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,073 (GRCm39)	I34N	probably damaging	Het
Ddx1	A	C	12: 13,279,332 (GRCm39)	S436A	probably benign	Het
Defa30	A	G	8: 21,625,500 (GRCm39)	Y88C	probably damaging	Het
Dhx30	G	A	9: 109,917,740 (GRCm39)	L317F	probably damaging	Het
Dll3	C	A	7: 27,995,835 (GRCm39)	G322V	probably damaging	Het
Dnah10	G	A	5: 124,881,753 (GRCm39)	D2843N	probably damaging	Het
Dnaja3	C	T	16: 4,515,133 (GRCm39)	T266I	probably damaging	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,034,744 (GRCm39)	V48A	unknown	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Eri3	G	A	4: 117,506,562 (GRCm39)	G297D	probably benign	Het
Esp34	A	G	17: 38,870,424 (GRCm39)	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frzb	A	G	2: 80,276,724 (GRCm39)	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,823,601 (GRCm39)	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,493,843 (GRCm39)	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Gpa33	A	G	1: 165,992,759 (GRCm39)	I291V	probably benign	Het
Gpr158	A	G	2: 21,373,935 (GRCm39)	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,234,725 (GRCm39)	G84W	probably damaging	Het
Hormad1	A	G	3: 95,487,317 (GRCm39)	N267S	probably benign	Het
Htr2a	A	T	14: 74,943,193 (GRCm39)	I258F	probably damaging	Het
Htra4	T	C	8: 25,523,597 (GRCm39)	T323A	probably damaging	Het
Ift140	T	A	17: 25,254,813 (GRCm39)	F162Y	probably benign	Het
Islr2	T	C	9: 58,107,099 (GRCm39)	T54A	probably damaging	Het
Kcna4	T	G	2: 107,126,829 (GRCm39)	V521G	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Kif6	G	T	17: 50,208,799 (GRCm39)	A740S	probably benign	Het
Lad1	T	A	1: 135,755,468 (GRCm39)	V248E	probably damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,125,618 (GRCm39)	Y552H	probably damaging	Het
Mctp1	A	T	13: 76,973,860 (GRCm39)	T706S	probably damaging	Het
Med12l	A	G	3: 59,168,193 (GRCm39)	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,682,780 (GRCm39)	S165N	unknown	Het
Morn3	A	T	5: 123,184,692 (GRCm39)		probably null	Het
Nalcn	C	T	14: 123,697,824 (GRCm39)	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Or1j11	C	T	2: 36,311,886 (GRCm39)	H159Y	probably damaging	Het
Or2z2	G	A	11: 58,346,257 (GRCm39)	R173W	probably damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pcdhb5	T	C	18: 37,455,393 (GRCm39)	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Phactr3	C	A	2: 177,924,940 (GRCm39)	L292M	probably damaging	Het
Phf21b	T	A	15: 84,738,963 (GRCm39)	I21F	probably benign	Het
Pign	A	G	1: 105,482,223 (GRCm39)	V791A	probably damaging	Het
Pitpna	A	G	11: 75,499,929 (GRCm39)		probably null	Het
Piwil1	G	T	5: 128,824,903 (GRCm39)	E534*	probably null	Het
Plcz1	T	A	6: 139,938,775 (GRCm39)	I526F	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Polq	C	T	16: 36,882,471 (GRCm39)	T1545I	probably benign	Het
Psd4	G	A	2: 24,287,468 (GRCm39)	E467K	probably benign	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Pzp	T	C	6: 128,479,188 (GRCm39)	Y655C	probably damaging	Het
Qrsl1	C	T	10: 43,770,541 (GRCm39)	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669 (GRCm39)	C408Y	probably damaging	Het
Ralb	T	A	1: 119,403,797 (GRCm39)	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,763,151 (GRCm39)	K218E	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc17a8	A	T	10: 89,442,627 (GRCm39)	C69S	unknown	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,193,860 (GRCm39)		probably null	Het
Smarcal1	G	A	1: 72,625,258 (GRCm39)	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,026,644 (GRCm39)	R242*	probably null	Het
St3gal5	T	C	6: 72,109,077 (GRCm39)	L55P	probably damaging	Het
Sulf1	A	G	1: 12,908,661 (GRCm39)	N558S	probably benign	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,870,292 (GRCm39)	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,147,891 (GRCm39)	V187A	probably benign	Het
Tdrd9	G	A	12: 112,011,246 (GRCm39)	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,288,451 (GRCm39)	Y9H	probably benign	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trip12	T	A	1: 84,705,866 (GRCm39)	N655Y	probably damaging	Het
Ttn	A	G	2: 76,581,773 (GRCm39)	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,167,367 (GRCm39)	N188K	probably damaging	Het
Ube2c	C	T	2: 164,613,282 (GRCm39)	H67Y	probably damaging	Het
Unc80	C	A	1: 66,670,573 (GRCm39)	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,376,153 (GRCm39)	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,918,556 (GRCm39)	S112L	possibly damaging	Het
Wdfy3	A	T	5: 102,036,052 (GRCm39)	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,973,168 (GRCm39)	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zdhhc25	A	T	15: 88,484,689 (GRCm39)	H8L	probably benign	Het
Zfp455	A	T	13: 67,355,881 (GRCm39)	H383L	probably damaging	Het
Zfp663	A	G	2: 165,195,211 (GRCm39)	I336T	probably benign	Het
Zfp738	T	A	13: 67,818,476 (GRCm39)	H505L	probably damaging	Het
Zfp84	T	G	7: 29,474,796 (GRCm39)	F23V	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGCCAGAAGACCATGG -3'
(R):5'- TCACAAGCCTTCACTCAGTC -3'

Sequencing Primer
(F):5'- TGGATATCAATGCAAAGCTCTACCTC -3'
(R):5'- ACACAGTACCTAATCTCTTTTCTGAG -3'

Posted On

2014-06-23