Incidental Mutation 'IGL02310:Matcap2'
ID 287780
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) question?
Stock # IGL02310
Quality Score
Status
Chromosome 9
Chromosomal Location 22322809-22355977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22335724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 114 (Y114C)
Ref Sequence ENSEMBL: ENSMUSP00000062120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058868] [ENSMUST00000214436] [ENSMUST00000215715]
AlphaFold Q7TQE7
Predicted Effect probably benign
Transcript: ENSMUST00000058868
AA Change: Y114C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: Y114C

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
DUF1704 202 511 1.28e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213598
Predicted Effect probably benign
Transcript: ENSMUST00000214436
Predicted Effect probably benign
Transcript: ENSMUST00000215715
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T A 10: 88,859,740 (GRCm39) K382* probably null Het
Apoc2l A G 7: 19,405,688 (GRCm39) *98Q probably null Het
Bcl9l A G 9: 44,420,602 (GRCm39) Y1299C probably damaging Het
Best1 T A 19: 9,966,516 (GRCm39) H357L probably benign Het
Cdc26 T C 4: 62,313,266 (GRCm39) probably benign Het
Esyt2 C T 12: 116,329,541 (GRCm39) L700F probably benign Het
Fkbp15 T C 4: 62,258,553 (GRCm39) Y138C probably damaging Het
Gbp6 T C 5: 105,438,841 (GRCm39) N16D probably benign Het
Hecw2 T C 1: 53,963,075 (GRCm39) D812G probably null Het
Hic2 G A 16: 17,075,621 (GRCm39) R150Q probably damaging Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Klhl36 T A 8: 120,596,356 (GRCm39) probably null Het
Mug2 C T 6: 122,036,082 (GRCm39) probably benign Het
Or9s14 T C 1: 92,535,787 (GRCm39) V76A possibly damaging Het
Pdcl2 A T 5: 76,465,728 (GRCm39) I116N probably damaging Het
Pip4p1 T C 14: 51,166,667 (GRCm39) T187A possibly damaging Het
Pkn2 A G 3: 142,517,341 (GRCm39) I482T probably damaging Het
Prss53 T G 7: 127,485,786 (GRCm39) D518A probably benign Het
Psme4 A G 11: 30,787,484 (GRCm39) D1093G probably benign Het
Tmcc2 A T 1: 132,286,645 (GRCm39) I602N probably damaging Het
Ttn C T 2: 76,619,035 (GRCm39) V16115I possibly damaging Het
Zbtb21 G T 16: 97,752,990 (GRCm39) T459K possibly damaging Het
Other mutations in Matcap2
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL01666:Matcap2 APN 9 22,342,994 (GRCm39) missense probably benign 0.08
IGL02111:Matcap2 APN 9 22,335,475 (GRCm39) missense probably benign
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 2015-04-16