Incidental Mutation 'R5180:Matn3'
ID 399758
Institutional Source Beutler Lab
Gene Symbol Matn3
Ensembl Gene ENSMUSG00000020583
Gene Name matrilin 3
Synonyms
MMRRC Submission 042760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5180 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 8997929-9022028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9005374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 261 (D261E)
Ref Sequence ENSEMBL: ENSMUSP00000020899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020899]
AlphaFold O35701
Predicted Effect probably benign
Transcript: ENSMUST00000020899
AA Change: D261E

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: D261E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
VWA 76 255 5.06e-51 SMART
EGF 257 300 2.02e-1 SMART
EGF 304 342 4.1e-2 SMART
EGF 346 384 4.22e-4 SMART
EGF 388 426 1.21e-4 SMART
Matrilin_ccoil 433 479 8.93e-14 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,416,510 (GRCm39) T4091A probably benign Het
Adgrv1 G A 13: 81,431,535 (GRCm39) probably benign Het
Ago3 C T 4: 126,261,544 (GRCm39) V435I probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ampd2 G T 3: 107,986,358 (GRCm39) Q273K probably benign Het
Ankrd35 C A 3: 96,587,789 (GRCm39) H109Q probably damaging Het
Atpaf2 A G 11: 60,296,695 (GRCm39) L153S possibly damaging Het
C1qtnf7 G A 5: 43,773,156 (GRCm39) V152M probably benign Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep295 C T 9: 15,243,416 (GRCm39) C1680Y probably benign Het
Cyp4f15 A T 17: 32,909,714 (GRCm39) I104F probably benign Het
Daam1 A G 12: 71,993,899 (GRCm39) N434S unknown Het
Dab2ip C T 2: 35,610,503 (GRCm39) P782L possibly damaging Het
Dhx34 C A 7: 15,939,405 (GRCm39) G663* probably null Het
Dnah7a T C 1: 53,462,446 (GRCm39) D3715G probably damaging Het
Dnajc11 C T 4: 152,054,396 (GRCm39) R201C probably damaging Het
Erf A T 7: 24,945,690 (GRCm39) I27N probably damaging Het
Fbxl7 T A 15: 26,543,507 (GRCm39) Y380F probably damaging Het
Gm3336 A G 8: 71,173,110 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm5134 T C 10: 75,812,200 (GRCm39) Y152H probably damaging Het
Gm6899 A G 11: 26,543,795 (GRCm39) probably benign Het
Gna11 T C 10: 81,380,707 (GRCm39) K19E probably benign Het
Gpr15 C A 16: 58,538,248 (GRCm39) L280F probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80d C A 1: 63,125,488 (GRCm39) probably benign Het
Irak3 T G 10: 119,981,687 (GRCm39) K406T probably damaging Het
Kif15 G A 9: 122,828,275 (GRCm39) C634Y probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Macrod2 A T 2: 140,237,636 (GRCm39) E14V probably damaging Het
Mdga1 A T 17: 30,076,710 (GRCm39) probably benign Het
Natd1 G T 11: 60,804,482 (GRCm39) R24S probably benign Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Or5b101 A T 19: 13,004,776 (GRCm39) S306T probably benign Het
Parp9 T A 16: 35,774,106 (GRCm39) Y81* probably null Het
Pde4d A G 13: 109,877,007 (GRCm39) N73S probably benign Het
Pigb A T 9: 72,941,872 (GRCm39) I129N probably damaging Het
Plxnb1 C A 9: 108,940,761 (GRCm39) probably null Het
Ppfibp1 G T 6: 146,928,819 (GRCm39) R813L probably damaging Het
Ramp3 T A 11: 6,608,619 (GRCm39) L16Q unknown Het
Slc35a4 T C 18: 36,815,688 (GRCm39) S173P probably benign Het
Slc41a1 T C 1: 131,772,115 (GRCm39) V415A probably damaging Het
Smarcc2 CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 10: 128,323,231 (GRCm39) probably benign Het
Snph G A 2: 151,442,307 (GRCm39) R43W probably benign Het
Sptan1 A T 2: 29,883,736 (GRCm39) probably benign Het
Supt20 C A 3: 54,616,506 (GRCm39) H254Q probably benign Het
Taar7a A G 10: 23,869,046 (GRCm39) C112R probably damaging Het
Tbc1d4 T C 14: 101,745,008 (GRCm39) Y206C probably damaging Het
Tecta A G 9: 42,248,504 (GRCm39) V1961A probably damaging Het
Tgfbr1 T A 4: 47,383,948 (GRCm39) Y30* probably null Het
Tmem71 C T 15: 66,427,063 (GRCm39) S44N probably benign Het
Tnfrsf1b C A 4: 144,954,067 (GRCm39) C94F probably damaging Het
Ttn A G 2: 76,579,740 (GRCm39) Y23718H probably damaging Het
Ube2i T C 17: 25,484,268 (GRCm39) probably benign Het
Vmn2r16 G T 5: 109,478,391 (GRCm39) V49F probably benign Het
Vps45 A G 3: 95,953,683 (GRCm39) I223T possibly damaging Het
Zfp955a T C 17: 33,461,592 (GRCm39) Y180C probably benign Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Zscan18 T A 7: 12,509,216 (GRCm39) probably benign Het
Other mutations in Matn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Matn3 APN 12 9,002,091 (GRCm39) missense probably damaging 0.98
IGL02138:Matn3 APN 12 9,017,638 (GRCm39) missense possibly damaging 0.93
IGL02442:Matn3 APN 12 9,017,678 (GRCm39) nonsense probably null
IGL02736:Matn3 APN 12 9,005,422 (GRCm39) missense possibly damaging 0.53
R0091:Matn3 UTSW 12 9,002,105 (GRCm39) missense probably damaging 0.98
R0585:Matn3 UTSW 12 9,011,103 (GRCm39) splice site probably benign
R0615:Matn3 UTSW 12 9,013,594 (GRCm39) missense probably damaging 1.00
R1424:Matn3 UTSW 12 9,011,132 (GRCm39) missense possibly damaging 0.91
R1571:Matn3 UTSW 12 9,005,466 (GRCm39) missense probably damaging 1.00
R1844:Matn3 UTSW 12 9,017,662 (GRCm39) missense possibly damaging 0.90
R1865:Matn3 UTSW 12 9,002,041 (GRCm39) missense probably damaging 1.00
R1977:Matn3 UTSW 12 9,011,110 (GRCm39) splice site probably benign
R3015:Matn3 UTSW 12 9,002,217 (GRCm39) missense probably damaging 0.97
R3018:Matn3 UTSW 12 9,013,578 (GRCm39) missense probably benign 0.02
R5308:Matn3 UTSW 12 9,002,308 (GRCm39) frame shift probably null
R5616:Matn3 UTSW 12 8,998,195 (GRCm39) missense probably benign
R5816:Matn3 UTSW 12 9,020,571 (GRCm39) missense probably damaging 1.00
R5849:Matn3 UTSW 12 9,008,829 (GRCm39) missense probably benign 0.10
R7065:Matn3 UTSW 12 9,002,472 (GRCm39) missense probably damaging 0.99
R7206:Matn3 UTSW 12 9,011,170 (GRCm39) missense probably benign 0.01
R8512:Matn3 UTSW 12 9,011,183 (GRCm39) missense probably benign 0.11
R8737:Matn3 UTSW 12 9,017,665 (GRCm39) missense possibly damaging 0.90
R8951:Matn3 UTSW 12 9,002,172 (GRCm39) missense probably damaging 0.99
R9022:Matn3 UTSW 12 9,002,355 (GRCm39) missense probably damaging 1.00
R9328:Matn3 UTSW 12 9,002,033 (GRCm39) missense possibly damaging 0.78
RF001:Matn3 UTSW 12 9,008,797 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCTGACCTGTGGAAATGTTTG -3'
(R):5'- AACTCACCCCTGGAGAAGAG -3'

Sequencing Primer
(F):5'- CTCCTTTGAGAGATGGTATAGCAAG -3'
(R):5'- GAAGAGGTGTCAAATAACTCTCACTC -3'
Posted On 2016-07-06