Incidental Mutation 'IGL00392:Matn2'
ID 4107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn2
Ensembl Gene ENSMUSG00000022324
Gene Name matrilin 2
Synonyms Crtm2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00392
Quality Score
Status
Chromosome 15
Chromosomal Location 34306827-34436388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34403002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 409 (N409S)
Ref Sequence ENSEMBL: ENSMUSP00000154572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022947] [ENSMUST00000163455] [ENSMUST00000227759] [ENSMUST00000228570]
AlphaFold O08746
Predicted Effect probably benign
Transcript: ENSMUST00000022947
AA Change: N409S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: N409S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 55 237 1.99e-49 SMART
EGF 241 278 6.86e-4 SMART
EGF 282 319 5.49e-3 SMART
EGF 323 360 7.88e-4 SMART
EGF 364 401 6.76e-3 SMART
EGF 405 442 4.39e-2 SMART
EGF 446 483 9.41e-2 SMART
EGF 487 524 1.24e-1 SMART
EGF 528 565 2.23e-3 SMART
EGF 569 606 8.44e-4 SMART
EGF 610 647 9.55e-3 SMART
VWA 653 831 1.14e-49 SMART
Matrilin_ccoil 889 935 4.78e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163455
AA Change: N409S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: N409S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 55 237 1.99e-49 SMART
EGF 241 278 6.86e-4 SMART
EGF 282 319 5.49e-3 SMART
EGF 323 360 7.88e-4 SMART
EGF 364 401 6.76e-3 SMART
EGF 405 442 4.39e-2 SMART
EGF 446 483 9.41e-2 SMART
EGF 487 524 1.24e-1 SMART
EGF 528 565 2.23e-3 SMART
EGF 569 606 8.44e-4 SMART
EGF 610 647 9.55e-3 SMART
VWA 653 831 1.14e-49 SMART
Matrilin_ccoil 908 955 7.77e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227759
AA Change: N409S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000228570
AA Change: N409S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
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 the 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 five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,727,757 (GRCm39) Y296H possibly damaging Het
Armh3 T G 19: 45,928,927 (GRCm39) H389P probably benign Het
Brca2 A G 5: 150,464,705 (GRCm39) T1490A probably benign Het
Btaf1 A T 19: 36,987,102 (GRCm39) D1732V probably damaging Het
Capzb T C 4: 139,016,258 (GRCm39) I273T probably benign Het
Carmil1 G A 13: 24,278,474 (GRCm39) T165I probably damaging Het
Cc2d2a A G 5: 43,881,722 (GRCm39) probably benign Het
Cdh22 A G 2: 164,954,521 (GRCm39) Y667H possibly damaging Het
Celsr1 T A 15: 85,815,546 (GRCm39) Q1823L probably benign Het
Cfap210 T C 2: 69,602,328 (GRCm39) H361R probably benign Het
Cntrl T C 2: 35,027,826 (GRCm39) probably benign Het
Dhx15 A T 5: 52,314,924 (GRCm39) probably benign Het
Dip2c A T 13: 9,543,144 (GRCm39) D30V probably damaging Het
Dyrk2 T C 10: 118,695,749 (GRCm39) D503G probably damaging Het
Enpp1 T A 10: 24,521,325 (GRCm39) I801F possibly damaging Het
Fnbp4 A C 2: 90,581,966 (GRCm39) probably benign Het
Klk1b5 T A 7: 43,865,928 (GRCm39) W2R probably benign Het
Lama2 T C 10: 27,064,261 (GRCm39) K1240R probably benign Het
Mep1b A T 18: 21,217,243 (GRCm39) K121* probably null Het
Mettl26 T C 17: 26,095,098 (GRCm39) probably null Het
Myh7 T C 14: 55,224,845 (GRCm39) E574G probably damaging Het
Nfkbie G A 17: 45,871,139 (GRCm39) probably null Het
Nlrc4 T C 17: 74,753,529 (GRCm39) R285G probably benign Het
Pax8 T C 2: 24,333,144 (GRCm39) Y66C probably damaging Het
Plxna2 A G 1: 194,482,876 (GRCm39) D1523G probably damaging Het
Pou2f1 A G 1: 165,724,159 (GRCm39) probably benign Het
Prom1 A G 5: 44,164,363 (GRCm39) probably null Het
Ptk6 T C 2: 180,837,611 (GRCm39) D436G probably benign Het
Robo4 T A 9: 37,319,525 (GRCm39) F592I probably damaging Het
Sec24c C A 14: 20,743,271 (GRCm39) S964R probably benign Het
Sgcb G T 5: 73,793,021 (GRCm39) N260K possibly damaging Het
Smarcd2 T C 11: 106,156,730 (GRCm39) D221G probably damaging Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Zfpl1 C A 19: 6,131,137 (GRCm39) R285L possibly damaging Het
Other mutations in Matn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Matn2 APN 15 34,428,616 (GRCm39) missense probably damaging 1.00
IGL01475:Matn2 APN 15 34,316,671 (GRCm39) missense possibly damaging 0.94
IGL02223:Matn2 APN 15 34,423,864 (GRCm39) missense probably benign 0.00
IGL02252:Matn2 APN 15 34,316,736 (GRCm39) missense probably damaging 0.98
IGL02288:Matn2 APN 15 34,422,532 (GRCm39) missense probably damaging 1.00
IGL02738:Matn2 APN 15 34,388,885 (GRCm39) missense probably benign 0.07
IGL02927:Matn2 APN 15 34,355,801 (GRCm39) missense probably damaging 1.00
IGL03331:Matn2 APN 15 34,345,503 (GRCm39) missense probably damaging 1.00
Engorged UTSW 15 34,426,380 (GRCm39) missense probably damaging 1.00
PIT4260001:Matn2 UTSW 15 34,428,877 (GRCm39) missense possibly damaging 0.78
R0124:Matn2 UTSW 15 34,426,297 (GRCm39) splice site probably benign
R0422:Matn2 UTSW 15 34,435,917 (GRCm39) splice site probably null
R0449:Matn2 UTSW 15 34,428,687 (GRCm39) missense probably damaging 1.00
R0606:Matn2 UTSW 15 34,345,296 (GRCm39) missense probably damaging 1.00
R0655:Matn2 UTSW 15 34,345,346 (GRCm39) missense probably benign 0.03
R0885:Matn2 UTSW 15 34,316,751 (GRCm39) missense possibly damaging 0.67
R1384:Matn2 UTSW 15 34,409,956 (GRCm39) missense probably benign 0.00
R1603:Matn2 UTSW 15 34,388,914 (GRCm39) missense probably damaging 1.00
R1667:Matn2 UTSW 15 34,378,878 (GRCm39) missense probably damaging 0.99
R1720:Matn2 UTSW 15 34,345,420 (GRCm39) nonsense probably null
R1772:Matn2 UTSW 15 34,428,931 (GRCm39) missense probably damaging 0.99
R2037:Matn2 UTSW 15 34,433,263 (GRCm39) missense probably benign 0.00
R2107:Matn2 UTSW 15 34,423,905 (GRCm39) missense probably damaging 1.00
R2240:Matn2 UTSW 15 34,433,209 (GRCm39) missense probably damaging 1.00
R3933:Matn2 UTSW 15 34,345,566 (GRCm39) splice site probably null
R3963:Matn2 UTSW 15 34,388,937 (GRCm39) nonsense probably null
R4648:Matn2 UTSW 15 34,428,679 (GRCm39) missense probably damaging 1.00
R4695:Matn2 UTSW 15 34,403,071 (GRCm39) missense probably damaging 1.00
R4817:Matn2 UTSW 15 34,423,945 (GRCm39) missense probably damaging 1.00
R4935:Matn2 UTSW 15 34,428,831 (GRCm39) missense probably damaging 1.00
R5105:Matn2 UTSW 15 34,355,814 (GRCm39) missense possibly damaging 0.95
R5177:Matn2 UTSW 15 34,433,660 (GRCm39) missense possibly damaging 0.58
R5717:Matn2 UTSW 15 34,399,237 (GRCm39) nonsense probably null
R5760:Matn2 UTSW 15 34,355,753 (GRCm39) missense possibly damaging 0.46
R5776:Matn2 UTSW 15 34,431,765 (GRCm39) missense probably damaging 1.00
R5842:Matn2 UTSW 15 34,399,202 (GRCm39) missense probably damaging 0.99
R5917:Matn2 UTSW 15 34,409,912 (GRCm39) nonsense probably null
R5964:Matn2 UTSW 15 34,410,311 (GRCm39) missense probably damaging 1.00
R6265:Matn2 UTSW 15 34,399,301 (GRCm39) missense probably damaging 1.00
R6272:Matn2 UTSW 15 34,355,753 (GRCm39) missense possibly damaging 0.46
R6332:Matn2 UTSW 15 34,423,901 (GRCm39) missense probably benign 0.00
R6457:Matn2 UTSW 15 34,426,380 (GRCm39) missense probably damaging 1.00
R7351:Matn2 UTSW 15 34,345,482 (GRCm39) missense probably damaging 0.97
R7660:Matn2 UTSW 15 34,423,874 (GRCm39) nonsense probably null
R7660:Matn2 UTSW 15 34,403,092 (GRCm39) missense probably benign 0.00
R7775:Matn2 UTSW 15 34,399,223 (GRCm39) missense possibly damaging 0.94
R7778:Matn2 UTSW 15 34,399,223 (GRCm39) missense possibly damaging 0.94
R8007:Matn2 UTSW 15 34,426,315 (GRCm39) missense probably benign 0.01
R8059:Matn2 UTSW 15 34,345,481 (GRCm39) missense probably damaging 1.00
R8174:Matn2 UTSW 15 34,422,555 (GRCm39) missense probably benign 0.30
R8331:Matn2 UTSW 15 34,428,827 (GRCm39) missense probably damaging 1.00
R8354:Matn2 UTSW 15 34,378,843 (GRCm39) missense probably damaging 0.98
R8377:Matn2 UTSW 15 34,345,511 (GRCm39) missense probably damaging 1.00
R8393:Matn2 UTSW 15 34,355,748 (GRCm39) missense possibly damaging 0.92
R8532:Matn2 UTSW 15 34,316,699 (GRCm39) missense probably benign 0.42
R8555:Matn2 UTSW 15 34,423,951 (GRCm39) missense probably benign 0.03
R8756:Matn2 UTSW 15 34,423,876 (GRCm39) missense possibly damaging 0.94
R8973:Matn2 UTSW 15 34,433,196 (GRCm39) missense probably benign 0.01
R9198:Matn2 UTSW 15 34,423,924 (GRCm39) missense probably damaging 0.99
R9220:Matn2 UTSW 15 34,410,325 (GRCm39) missense possibly damaging 0.58
R9478:Matn2 UTSW 15 34,345,242 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20