Incidental Mutation 'R0357:Matcap1'
ID 29886
Institutional Source Beutler Lab
Gene Symbol Matcap1
Ensembl Gene ENSMUSG00000014837
Gene Name microtubule associated tyrosine carboxypeptidase 1
Synonyms MATCAP, 4931428F04Rik
MMRRC Submission 038563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0357 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106007041-106016160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106011699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 222 (V222E)
Ref Sequence ENSEMBL: ENSMUSP00000148562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212922] [ENSMUST00000212777]
AlphaFold Q810A5
Predicted Effect probably benign
Transcript: ENSMUST00000014920
SMART Domains Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

DomainStartEndE-ValueType
CARD 4 92 2.1e-27 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 173 209 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000014981
AA Change: V222E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
AA Change: V222E

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057855
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171788
AA Change: V222E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
AA Change: V222E

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212219
AA Change: V222E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212288
Predicted Effect probably damaging
Transcript: ENSMUST00000212922
AA Change: V222E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212529
Meta Mutation Damage Score 0.9177 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,778,463 (GRCm39) K232E probably benign Het
AI837181 C T 19: 5,476,731 (GRCm39) T298I possibly damaging Het
Alox12 T C 11: 70,133,362 (GRCm39) Y614C probably damaging Het
Amn A T 12: 111,240,575 (GRCm39) probably null Het
Ankrd33b A G 15: 31,305,272 (GRCm39) S121P probably benign Het
Aox1 A G 1: 58,131,675 (GRCm39) Y1028C probably damaging Het
Asph C A 4: 9,453,314 (GRCm39) R736L probably benign Het
Atp2a3 G A 11: 72,861,757 (GRCm39) probably null Het
Cables2 T C 2: 179,904,025 (GRCm39) probably benign Het
Catsperg2 A T 7: 29,414,326 (GRCm39) Y360N possibly damaging Het
Cdh4 T C 2: 179,489,133 (GRCm39) S282P probably damaging Het
Col5a3 C T 9: 20,719,064 (GRCm39) probably benign Het
Ctso A T 3: 81,858,850 (GRCm39) probably benign Het
Cyp4f13 A T 17: 33,151,625 (GRCm39) Y125* probably null Het
Dapk1 T A 13: 60,877,372 (GRCm39) L537* probably null Het
Ddit4l G A 3: 137,331,946 (GRCm39) R104Q probably benign Het
Def6 C T 17: 28,442,909 (GRCm39) H322Y probably damaging Het
Dnaaf9 A T 2: 130,554,866 (GRCm39) probably benign Het
Dnah6 T C 6: 73,165,342 (GRCm39) N588D probably benign Het
Dzip1 T A 14: 119,146,950 (GRCm39) I320F probably damaging Het
Epb41l5 T C 1: 119,536,934 (GRCm39) H319R probably damaging Het
Erc2 A G 14: 27,498,979 (GRCm39) E285G probably damaging Het
Fat4 G A 3: 38,945,376 (GRCm39) G1423E probably damaging Het
Foxp2 C T 6: 15,409,839 (GRCm39) P480S probably damaging Het
Gadd45gip1 G A 8: 85,560,762 (GRCm39) A126T probably damaging Het
Gbp5 G A 3: 142,211,172 (GRCm39) D301N probably benign Het
Gm10360 T C 6: 70,401,297 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,387,604 (GRCm39) noncoding transcript Het
Gm8674 T A 13: 50,056,149 (GRCm39) noncoding transcript Het
H2bc18 A C 3: 96,177,104 (GRCm39) K13Q probably null Het
Ift172 A G 5: 31,415,244 (GRCm39) S1322P possibly damaging Het
Ift80 A T 3: 68,821,986 (GRCm39) Y686* probably null Het
Insrr A C 3: 87,715,953 (GRCm39) probably null Het
Itprid1 T A 6: 55,945,019 (GRCm39) M580K probably benign Het
Krt87 C T 15: 101,384,900 (GRCm39) V399M probably benign Het
Macf1 T C 4: 123,351,776 (GRCm39) N3708S probably damaging Het
Mogat1 T C 1: 78,488,677 (GRCm39) S27P probably benign Het
Mrgpra4 A T 7: 47,631,574 (GRCm39) M9K probably benign Het
Mtus1 A T 8: 41,536,563 (GRCm39) S384R possibly damaging Het
Myo1a T A 10: 127,546,771 (GRCm39) M306K probably benign Het
Noxa1 G T 2: 24,975,862 (GRCm39) D403E probably damaging Het
Ogdhl T C 14: 32,068,415 (GRCm39) V884A possibly damaging Het
Or10ak12 A C 4: 118,666,614 (GRCm39) L149R probably damaging Het
Or2y1f A G 11: 49,184,613 (GRCm39) N155S probably damaging Het
Or6k4 T A 1: 173,964,865 (GRCm39) L185* probably null Het
Or6n1 T C 1: 173,916,675 (GRCm39) V23A possibly damaging Het
Paxip1 G A 5: 27,963,621 (GRCm39) probably benign Het
Paxx T A 2: 25,350,079 (GRCm39) E145D probably damaging Het
Pde4d T C 13: 110,087,802 (GRCm39) V560A possibly damaging Het
Pheta2 C T 15: 82,227,517 (GRCm39) A12V probably damaging Het
Plxnd1 C T 6: 115,946,421 (GRCm39) V847M probably benign Het
Polk T A 13: 96,641,105 (GRCm39) M151L probably damaging Het
Ptprq C T 10: 107,522,060 (GRCm39) probably benign Het
Pum2 A G 12: 8,771,785 (GRCm39) Q371R possibly damaging Het
Reln G A 5: 22,155,820 (GRCm39) A2224V probably damaging Het
Rmc1 T C 18: 12,312,266 (GRCm39) S169P possibly damaging Het
Scart1 T G 7: 139,807,808 (GRCm39) C660G probably damaging Het
Shroom1 A G 11: 53,356,035 (GRCm39) T362A probably damaging Het
Smarcd2 A G 11: 106,158,158 (GRCm39) probably null Het
Spg11 A C 2: 121,896,713 (GRCm39) probably benign Het
Tcaf3 T A 6: 42,566,761 (GRCm39) Y776F probably damaging Het
Thada A G 17: 84,538,364 (GRCm39) V1548A probably damaging Het
Trpv2 C T 11: 62,481,130 (GRCm39) P410S probably damaging Het
Ube2u G T 4: 100,338,851 (GRCm39) E39* probably null Het
Ulbp3 A T 10: 3,070,307 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,075,788 (GRCm39) noncoding transcript Het
Vmn2r2 C T 3: 64,041,320 (GRCm39) probably null Het
Vmn2r24 TCC TC 6: 123,792,369 (GRCm39) probably null Het
Wdr87-ps A T 7: 29,235,007 (GRCm39) noncoding transcript Het
Zfp110 A G 7: 12,570,302 (GRCm39) Y43C probably damaging Het
Zfp605 A G 5: 110,272,245 (GRCm39) T55A probably benign Het
Other mutations in Matcap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Matcap1 APN 8 106,011,289 (GRCm39) splice site probably benign
IGL02544:Matcap1 APN 8 106,010,092 (GRCm39) missense probably benign 0.44
IGL02822:Matcap1 APN 8 106,011,330 (GRCm39) missense probably damaging 1.00
PIT4403001:Matcap1 UTSW 8 106,011,376 (GRCm39) missense probably benign 0.36
R0507:Matcap1 UTSW 8 106,011,351 (GRCm39) missense probably damaging 1.00
R1759:Matcap1 UTSW 8 106,012,182 (GRCm39) missense probably damaging 0.96
R2874:Matcap1 UTSW 8 106,008,664 (GRCm39) missense possibly damaging 0.95
R3896:Matcap1 UTSW 8 106,009,920 (GRCm39) missense probably benign 0.00
R4960:Matcap1 UTSW 8 106,009,843 (GRCm39) missense probably damaging 1.00
R5341:Matcap1 UTSW 8 106,011,687 (GRCm39) missense probably damaging 1.00
R5834:Matcap1 UTSW 8 106,008,755 (GRCm39) nonsense probably null
R6863:Matcap1 UTSW 8 106,012,435 (GRCm39) missense probably damaging 1.00
R7247:Matcap1 UTSW 8 106,011,331 (GRCm39) missense probably benign 0.05
R8130:Matcap1 UTSW 8 106,012,145 (GRCm39) missense probably benign 0.00
R9258:Matcap1 UTSW 8 106,008,775 (GRCm39) missense probably damaging 0.98
R9579:Matcap1 UTSW 8 106,012,379 (GRCm39) missense probably benign 0.00
R9721:Matcap1 UTSW 8 106,009,820 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ACCACAATCTACAGGGTGACAGGG -3'
(R):5'- TCAGGAACCGATGCCAATGAGTG -3'

Sequencing Primer
(F):5'- TGAGTCACGGTTTCCAAGC -3'
(R):5'- TCATGAATCAGGTCAGCTCC -3'
Posted On 2013-04-24