Incidental Mutation 'IGL01666:Matcap2'
| ID |
103304 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Matcap2
|
| Ensembl Gene |
ENSMUSG00000036411 |
| Gene Name |
microtubule associated tyrosine carboxypeptidase 2 |
| Synonyms |
9530077C05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
22322809-22355977 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22342994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 163
(D163G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058868]
[ENSMUST00000214436]
[ENSMUST00000215715]
|
| AlphaFold |
Q7TQE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058868
AA Change: D296G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: D296G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
100 |
N/A |
INTRINSIC |
|
DUF1704
|
202 |
511 |
1.28e-137 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214436
AA Change: D163G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215715
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
| Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,038,463 (GRCm39) |
H400R |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
Het |
|
| Other mutations in Matcap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Matcap2
|
APN |
9 |
22,346,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01574:Matcap2
|
APN |
9 |
22,355,426 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02111:Matcap2
|
APN |
9 |
22,335,475 (GRCm39) |
missense |
probably benign |
|
|
IGL02310:Matcap2
|
APN |
9 |
22,335,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02638:Matcap2
|
APN |
9 |
22,341,775 (GRCm39) |
nonsense |
probably null |
|
|
LCD18:Matcap2
|
UTSW |
9 |
22,442,083 (GRCm38) |
intron |
probably benign |
|
|
R1239:Matcap2
|
UTSW |
9 |
22,335,995 (GRCm39) |
intron |
probably benign |
|
|
R1519:Matcap2
|
UTSW |
9 |
22,341,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2248:Matcap2
|
UTSW |
9 |
22,355,410 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2438:Matcap2
|
UTSW |
9 |
22,342,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4838:Matcap2
|
UTSW |
9 |
22,335,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5304:Matcap2
|
UTSW |
9 |
22,335,528 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5418:Matcap2
|
UTSW |
9 |
22,343,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Matcap2
|
UTSW |
9 |
22,351,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5652:Matcap2
|
UTSW |
9 |
22,335,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6008:Matcap2
|
UTSW |
9 |
22,335,422 (GRCm39) |
nonsense |
probably null |
|
|
R8334:Matcap2
|
UTSW |
9 |
22,355,414 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9474:Matcap2
|
UTSW |
9 |
22,343,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9640:Matcap2
|
UTSW |
9 |
22,351,228 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2014-01-21 |
Incidental Mutation