Incidental Mutation 'R2272:Matn4'
ID 242536
Institutional Source Beutler Lab
Gene Symbol Matn4
Ensembl Gene ENSMUSG00000016995
Gene Name matrilin 4
Synonyms matrilin-4
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2272 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 164231313-164247080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164239162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 232 (C232S)
Ref Sequence ENSEMBL: ENSMUSP00000104983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103103
AA Change: C273S

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: C273S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103104
AA Change: C273S

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: C273S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109358
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.85e0 SMART
EGF 261 298 1.24e-1 SMART
VWA 304 482 6.72e-56 SMART
Matrilin_ccoil 492 539 2.39e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109359
AA Change: C232S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: C232S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 3.43e-4 SMART
EGF 261 298 1.85e0 SMART
EGF 302 339 1.24e-1 SMART
VWA 345 523 6.72e-56 SMART
Matrilin_ccoil 533 580 2.39e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154940
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
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. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Pcnx1 T C 12: 82,042,088 (GRCm39) V2240A probably benign Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L probably damaging Het
Other mutations in Matn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Matn4 APN 2 164,242,663 (GRCm39) missense probably damaging 0.97
IGL02188:Matn4 APN 2 164,242,786 (GRCm39) missense probably benign 0.00
IGL02195:Matn4 APN 2 164,242,972 (GRCm39) missense probably damaging 1.00
IGL02696:Matn4 APN 2 164,238,758 (GRCm39) missense probably benign 0.09
IGL02927:Matn4 APN 2 164,231,757 (GRCm39) missense probably damaging 1.00
R2021:Matn4 UTSW 2 164,242,573 (GRCm39) missense probably damaging 1.00
R2022:Matn4 UTSW 2 164,242,573 (GRCm39) missense probably damaging 1.00
R2448:Matn4 UTSW 2 164,243,770 (GRCm39) missense probably benign 0.04
R4824:Matn4 UTSW 2 164,235,151 (GRCm39) missense probably benign 0.01
R4839:Matn4 UTSW 2 164,242,896 (GRCm39) missense probably benign 0.00
R5884:Matn4 UTSW 2 164,246,528 (GRCm39) utr 5 prime probably benign
R5914:Matn4 UTSW 2 164,235,144 (GRCm39) missense probably damaging 1.00
R6209:Matn4 UTSW 2 164,242,735 (GRCm39) missense probably damaging 1.00
R6995:Matn4 UTSW 2 164,231,584 (GRCm39) nonsense probably null
R7679:Matn4 UTSW 2 164,231,578 (GRCm39) makesense probably null
R8035:Matn4 UTSW 2 164,238,960 (GRCm39) missense probably damaging 0.99
R8117:Matn4 UTSW 2 164,241,682 (GRCm39) missense probably benign 0.05
R8117:Matn4 UTSW 2 164,234,851 (GRCm39) missense probably damaging 1.00
R8321:Matn4 UTSW 2 164,235,207 (GRCm39) missense probably damaging 1.00
R8861:Matn4 UTSW 2 164,234,825 (GRCm39) missense
R9079:Matn4 UTSW 2 164,235,473 (GRCm39) unclassified probably benign
X0063:Matn4 UTSW 2 164,239,197 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAGTAGTCAATGGCTGAGG -3'
(R):5'- ACAAGGGTTGTGTGGCTTCC -3'

Sequencing Primer
(F):5'- CAGTAGTCAATGGCTGAGGGAAGG -3'
(R):5'- CTTCCGAGGGTTGCTTGGC -3'
Posted On 2014-10-16