Incidental Mutation 'R0091:Matn3'
ID 20229
Institutional Source Beutler Lab
Gene Symbol Matn3
Ensembl Gene ENSMUSG00000020583
Gene Name matrilin 3
Synonyms
MMRRC Submission 038378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0091 (G1)
Quality Score 118
Status Validated (trace)
Chromosome 12
Chromosomal Location 8997929-9022028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9002105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 106 (D106N)
Ref Sequence ENSEMBL: ENSMUSP00000020899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020899]
AlphaFold O35701
Predicted Effect probably damaging
Transcript: ENSMUST00000020899
AA Change: D106N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: D106N

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 0.1150 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Aebp2 T C 6: 140,589,800 (GRCm39) probably null Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Atp5mc2 A C 15: 102,571,492 (GRCm39) L133R probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Erc2 A T 14: 27,498,781 (GRCm39) probably null Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or1j18 A G 2: 36,624,917 (GRCm39) N195D probably damaging Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rora G A 9: 69,281,330 (GRCm39) R314H probably damaging Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (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
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
R5180:Matn3 UTSW 12 9,005,374 (GRCm39) missense probably benign 0.38
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'- TACTGCTGGGATCAGGAGATGCTC -3'
(R):5'- GCATACAGCTCAATGCCAGATGCAC -3'

Sequencing Primer
(F):5'- TGGCTCAGGCTTTCCAGAAC -3'
(R):5'- CTGTCACGATAATAGCTACCTTGG -3'
Posted On 2013-04-11