Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Msh2'

266625

Institutional Source

Beutler Lab

Gene Symbol

Msh2

Ensembl Gene

ENSMUSG00000024151

Gene Name

mutS homolog 2

Synonyms

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R2871 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

87979960-88031141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87993012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 314 (Q314K)

Ref Sequence

ENSEMBL: ENSMUSP00000024967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024967]

AlphaFold

P43247

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024967
AA Change: Q314K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: Q314K

Domain	Start	End	E-Value	Type
Pfam:MutS_I	17	132	4.6e-22	PFAM
Pfam:MutS_II	150	290	6.7e-23	PFAM
MUTSd	321	645	1e-105	SMART
MUTSac	662	849	3.54e-124	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172596

Predicted Effect

probably benign
Transcript: ENSMUST00000172855

SMART Domains

Protein: ENSMUSP00000133650
Gene: ENSMUSG00000024151

Domain	Start	End	E-Value	Type
Pfam:MutS_I	13	129	3.8e-22	PFAM
Pfam:MutS_II	103	193	2.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173097

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Akap8l	G	A	17: 32,557,416 (GRCm39)	T65I	possibly damaging	Het
Amdhd2	A	G	17: 24,376,829 (GRCm39)		probably benign	Het
Arid4a	T	A	12: 71,069,034 (GRCm39)		probably null	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Ccnb1-ps	C	A	7: 41,755,499 (GRCm39)		noncoding transcript	Het
Cfap54	A	T	10: 92,757,281 (GRCm39)	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eml5	C	T	12: 98,831,660 (GRCm39)	D433N	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,401,072 (GRCm39)	R520S	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lpo	A	G	11: 87,707,350 (GRCm39)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,502,722 (GRCm39)	I532V	probably benign	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Npas3	C	T	12: 54,114,796 (GRCm39)	R542*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or13a17	A	G	7: 140,271,198 (GRCm39)	I127V	possibly damaging	Het
Or13j1	C	A	4: 43,706,458 (GRCm39)	V37L	probably benign	Het
Or5t16	A	T	2: 86,819,192 (GRCm39)	C109*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pcnx3	A	T	19: 5,733,774 (GRCm39)		probably benign	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Pkp4	C	A	2: 59,138,500 (GRCm39)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,631,766 (GRCm39)	I48M	probably damaging	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,208,227 (GRCm39)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Msh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Msh2	APN	17	87,985,663 (GRCm39)	missense	probably damaging	1.00
IGL01602:Msh2	APN	17	88,003,917 (GRCm39)	unclassified	probably benign
IGL01605:Msh2	APN	17	88,003,917 (GRCm39)	unclassified	probably benign
IGL01775:Msh2	APN	17	87,990,074 (GRCm39)	missense	possibly damaging	0.94
IGL02243:Msh2	APN	17	87,985,796 (GRCm39)	splice site	probably benign
IGL02524:Msh2	APN	17	87,985,785 (GRCm39)	missense	probably benign	0.01
IGL02730:Msh2	APN	17	88,014,643 (GRCm39)	missense	probably damaging	1.00
IGL02743:Msh2	APN	17	88,014,643 (GRCm39)	missense	probably damaging	1.00
IGL03049:Msh2	APN	17	88,015,937 (GRCm39)	missense	probably damaging	1.00
IGL03282:Msh2	APN	17	87,996,430 (GRCm39)	missense	probably benign	0.00
IGL03286:Msh2	APN	17	87,990,095 (GRCm39)	missense	possibly damaging	0.92
R0011:Msh2	UTSW	17	87,987,521 (GRCm39)	intron	probably benign
R0363:Msh2	UTSW	17	88,024,904 (GRCm39)	missense	probably benign	0.30
R0520:Msh2	UTSW	17	88,024,972 (GRCm39)	missense	possibly damaging	0.77
R0633:Msh2	UTSW	17	87,980,238 (GRCm39)	splice site	probably null
R0862:Msh2	UTSW	17	87,987,480 (GRCm39)	missense	probably benign
R0864:Msh2	UTSW	17	87,987,480 (GRCm39)	missense	probably benign
R1146:Msh2	UTSW	17	87,987,488 (GRCm39)	missense	probably benign	0.00
R1146:Msh2	UTSW	17	87,987,488 (GRCm39)	missense	probably benign	0.00
R1264:Msh2	UTSW	17	88,014,607 (GRCm39)	splice site	probably null
R1459:Msh2	UTSW	17	87,985,771 (GRCm39)	missense	probably benign	0.01
R1572:Msh2	UTSW	17	88,026,080 (GRCm39)	missense	possibly damaging	0.89
R1592:Msh2	UTSW	17	87,987,441 (GRCm39)	splice site	probably null
R1647:Msh2	UTSW	17	87,980,064 (GRCm39)	missense	probably benign
R1984:Msh2	UTSW	17	88,026,724 (GRCm39)	missense	probably damaging	1.00
R2298:Msh2	UTSW	17	88,015,930 (GRCm39)	missense	probably damaging	0.99
R2871:Msh2	UTSW	17	87,993,012 (GRCm39)	missense	possibly damaging	0.61
R4383:Msh2	UTSW	17	87,996,566 (GRCm39)	missense	probably benign	0.00
R4411:Msh2	UTSW	17	88,025,032 (GRCm39)	missense	probably damaging	0.97
R4589:Msh2	UTSW	17	87,987,460 (GRCm39)	missense	possibly damaging	0.67
R4598:Msh2	UTSW	17	88,016,006 (GRCm39)	missense	probably damaging	1.00
R4599:Msh2	UTSW	17	88,016,006 (GRCm39)	missense	probably damaging	1.00
R4712:Msh2	UTSW	17	87,985,813 (GRCm39)	intron	probably benign
R4714:Msh2	UTSW	17	88,026,217 (GRCm39)	missense	probably damaging	1.00
R4834:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R4842:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R4859:Msh2	UTSW	17	88,026,187 (GRCm39)	missense	possibly damaging	0.94
R5007:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5008:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5010:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5014:Msh2	UTSW	17	88,025,004 (GRCm39)	missense	possibly damaging	0.83
R5048:Msh2	UTSW	17	87,980,196 (GRCm39)	missense	probably damaging	1.00
R5133:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5162:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5163:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5183:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5184:Msh2	UTSW	17	88,030,841 (GRCm39)	missense	probably benign
R5597:Msh2	UTSW	17	88,030,789 (GRCm39)	missense	probably benign	0.04
R5655:Msh2	UTSW	17	88,026,871 (GRCm39)	missense	possibly damaging	0.82
R5973:Msh2	UTSW	17	88,016,011 (GRCm39)	missense	probably damaging	1.00
R6191:Msh2	UTSW	17	88,030,900 (GRCm39)	missense	probably benign	0.03
R6632:Msh2	UTSW	17	88,020,094 (GRCm39)	missense	possibly damaging	0.49
R7260:Msh2	UTSW	17	88,025,047 (GRCm39)	missense	probably damaging	0.97
R7358:Msh2	UTSW	17	88,024,957 (GRCm39)	missense	possibly damaging	0.89
R9197:Msh2	UTSW	17	88,026,943 (GRCm39)	missense	possibly damaging	0.79
R9227:Msh2	UTSW	17	88,026,717 (GRCm39)	missense	probably benign	0.10
R9230:Msh2	UTSW	17	88,026,717 (GRCm39)	missense	probably benign	0.10
R9459:Msh2	UTSW	17	87,985,758 (GRCm39)	missense	possibly damaging	0.89
R9799:Msh2	UTSW	17	88,024,933 (GRCm39)	missense	probably damaging	1.00
X0058:Msh2	UTSW	17	87,987,362 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCACCAGCATGAGAGGC -3'
(R):5'- CGTCGACATATATTACTTGAGGC -3'

Sequencing Primer
(F):5'- CTCATGGACTAGAATTCCAGGCATG -3'
(R):5'- GCATTACTCGCAAAAGGAAT -3'

Posted On

2015-02-18