Incidental Mutation 'R6632:Msh2'
| ID |
525258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh2
|
| Ensembl Gene |
ENSMUSG00000024151 |
| Gene Name |
mutS homolog 2 |
| Synonyms |
|
| MMRRC Submission |
044754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R6632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87979960-88031141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88020094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 567
(K567Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024967]
|
| AlphaFold |
P43247 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024967
AA Change: K567Q
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000024967
Gene: ENSMUSG00000024151
AA Change: K567Q
| 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: ENSMUST00000173097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174703
|
| SMART Domains |
Protein: ENSMUSP00000133488
Gene: ENSMUSG00000024151
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MUTSd
|
2 |
63 |
7e-37 |
BLAST |
|
PDB:2O8E|A
|
2 |
63 |
4e-32 |
PDB |
|
SCOP:d1e3ma1
|
5 |
53 |
2e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0743 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
| Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
| Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,281,583 (GRCm39) |
V206A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
| Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,734 (GRCm39) |
S906P |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
| Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,271,438 (GRCm39) |
F70I |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCAGCACTTTTGGCTAACTCTC -3'
(R):5'- GGAATCGGCTACAACACAACAG -3'
Sequencing Primer
(F):5'- AACTCTCCTTTCAATCCTCTAAAGC -3'
(R):5'- GGCCGCCTGAGTACTTTAGTTAAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation