Incidental Mutation 'R1239:Matcap2'
ID 151886
Institutional Source Beutler Lab
Gene Symbol Matcap2
Ensembl Gene ENSMUSG00000036411
Gene Name microtubule associated tyrosine carboxypeptidase 2
Synonyms 9530077C05Rik
MMRRC Submission 039306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1239 (G1)
Quality Score 217
Status Validated
Chromosome 9
Chromosomal Location 22322809-22355977 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) GTTCTTC to GTTC at 22335995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058868] [ENSMUST00000214436] [ENSMUST00000215715]
AlphaFold Q7TQE7
Predicted Effect probably benign
Transcript: ENSMUST00000058868
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Adcy8 G T 15: 64,587,911 (GRCm39) R959S probably damaging Het
Ank1 A G 8: 23,586,171 (GRCm39) N455D probably damaging Het
Ankrd17 T C 5: 90,436,535 (GRCm39) T589A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Celsr1 G T 15: 85,863,347 (GRCm39) N1228K probably damaging Het
Ces4a T C 8: 105,876,130 (GRCm39) L557P probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Clba1 A G 12: 112,773,123 (GRCm39) R39G probably benign Het
Col27a1 T C 4: 63,237,152 (GRCm39) probably benign Het
Cplx2 G T 13: 54,527,415 (GRCm39) A100S probably damaging Het
Cpsf6 G A 10: 117,197,248 (GRCm39) probably benign Het
Cyp1a2 A G 9: 57,589,050 (GRCm39) F255L probably benign Het
Dnajc6 T C 4: 101,492,313 (GRCm39) Y783H probably damaging Het
E230025N22Rik T C 18: 36,818,528 (GRCm39) I434V probably damaging Het
Ermap T C 4: 119,046,122 (GRCm39) K3E probably benign Het
Gatd3a A G 10: 78,004,761 (GRCm39) probably benign Het
Gstm2 G A 3: 107,891,344 (GRCm39) L125F possibly damaging Het
Hk2 C T 6: 82,726,289 (GRCm39) G58R probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Mgmt T C 7: 136,729,786 (GRCm39) F200S probably benign Het
Mug2 T G 6: 122,058,637 (GRCm39) probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or5an11 G T 19: 12,246,340 (GRCm39) V249F probably damaging Het
Or5b109 G A 19: 13,212,040 (GRCm39) C142Y possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Phc3 A G 3: 30,968,279 (GRCm39) V886A probably damaging Het
Plcg2 T A 8: 118,282,783 (GRCm39) V88D probably benign Het
Podxl2 C T 6: 88,826,965 (GRCm39) V50I probably benign Het
Rap1gap G T 4: 137,445,307 (GRCm39) M329I probably damaging Het
Rbm5 A G 9: 107,630,165 (GRCm39) probably benign Het
Robo1 A G 16: 72,821,430 (GRCm39) probably null Het
Ryr2 A T 13: 11,897,929 (GRCm39) probably null Het
Skida1 A C 2: 18,052,128 (GRCm39) probably benign Het
Tecta A G 9: 42,243,781 (GRCm39) F2024L probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Vmn1r16 C T 6: 57,300,618 (GRCm39) M1I probably null Het
Zbtb39 G T 10: 127,578,938 (GRCm39) G504V probably damaging Het
Zfp1004 T C 2: 150,033,891 (GRCm39) Y71H possibly damaging Het
Zfp106 A T 2: 120,364,075 (GRCm39) N777K probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CTATTACAGGAAGCGGCCTAGCAC -3'
(R):5'- CTTCTAGTCAGAGAACACAGCGCAG -3'

Sequencing Primer
(F):5'- CGGCCTAGCACTGCCAC -3'
(R):5'- GATATGAAGGCATCTCCTTTTGC -3'
Posted On 2014-01-29