Incidental Mutation 'R7660:Matn2'
ID 591533
Institutional Source Beutler Lab
Gene Symbol Matn2
Ensembl Gene ENSMUSG00000022324
Gene Name matrilin 2
Synonyms Crtm2
MMRRC Submission 045735-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7660 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 34306827-34436388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34403092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 439 (K439R)
Ref Sequence ENSEMBL: ENSMUSP00000022947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022947] [ENSMUST00000163455] [ENSMUST00000227759] [ENSMUST00000228570]
AlphaFold O08746
Predicted Effect probably benign
Transcript: ENSMUST00000022947
AA Change: K439R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: K439R

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: K439R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: K439R

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: K439R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000228570
AA Change: K439R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (70/70)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,512 (GRCm39) H142L possibly damaging Het
Aadacl2fm3 A G 3: 59,772,689 (GRCm39) I64M probably benign Het
Abca13 A G 11: 9,240,678 (GRCm39) E847G probably benign Het
Abca9 T A 11: 110,006,278 (GRCm39) T1276S probably benign Het
Abcb11 C T 2: 69,117,938 (GRCm39) probably null Het
Alpk1 G C 3: 127,474,616 (GRCm39) H462Q probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atm C T 9: 53,356,807 (GRCm39) V2815M probably benign Het
Braf T C 6: 39,600,575 (GRCm39) I681V possibly damaging Het
Casc3 C G 11: 98,700,699 (GRCm39) R4G unknown Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Crybg1 T C 10: 43,874,831 (GRCm39) D759G probably damaging Het
Csrp2 A G 10: 110,773,624 (GRCm39) N103S probably benign Het
Faf1 A T 4: 109,719,034 (GRCm39) H380L probably damaging Het
Farp1 G A 14: 121,514,334 (GRCm39) A888T probably benign Het
Fat4 A T 3: 39,035,309 (GRCm39) Q2987L probably benign Het
Fkbp15 T A 4: 62,232,578 (GRCm39) T665S probably benign Het
Gigyf1 T C 5: 137,519,231 (GRCm39) S343P probably benign Het
Glrx3 A G 7: 137,060,954 (GRCm39) Y196C probably damaging Het
Gm3278 T G 14: 16,080,387 (GRCm39) L66R probably damaging Het
Ifi205 A G 1: 173,855,814 (GRCm39) V72A probably benign Het
Ift140 T G 17: 25,270,798 (GRCm39) L708R probably damaging Het
Ints13 A T 6: 146,458,836 (GRCm39) L328M probably benign Het
Itfg2 A G 6: 128,401,709 (GRCm39) I23T probably damaging Het
Ldha C T 7: 46,499,681 (GRCm39) P100S unknown Het
Lmtk2 T A 5: 144,085,158 (GRCm39) L210H probably damaging Het
Lrrc4 T A 6: 28,829,816 (GRCm39) I600L probably benign Het
Map2 C A 1: 66,453,536 (GRCm39) P809T probably damaging Het
Mep1a C T 17: 43,789,868 (GRCm39) G494S probably benign Het
Mtmr4 T C 11: 87,495,406 (GRCm39) F488L probably damaging Het
Mtus1 G T 8: 41,469,248 (GRCm39) T8K probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mybpc1 T C 10: 88,384,716 (GRCm39) T523A possibly damaging Het
Ncoa3 C T 2: 165,911,241 (GRCm39) P1334S probably benign Het
Neb T G 2: 52,139,451 (GRCm39) M119L Het
Nox4 T C 7: 87,019,230 (GRCm39) Y408H probably damaging Het
Nxpe3 C T 16: 55,664,690 (GRCm39) R510Q probably damaging Het
Or4c58 T C 2: 89,674,787 (GRCm39) T177A probably benign Het
Or4f52 C T 2: 111,061,960 (GRCm39) M59I probably damaging Het
Or5p60 A G 7: 107,724,041 (GRCm39) V143A probably benign Het
Or6c214 C A 10: 129,590,432 (GRCm39) E296* probably null Het
Or7g23 T C 9: 19,086,804 (GRCm39) H56R probably benign Het
Or8k31-ps1 A T 2: 86,356,174 (GRCm39) S116T possibly damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pax8 T C 2: 24,326,573 (GRCm39) Y263C probably benign Het
Pcdha11 T A 18: 37,138,904 (GRCm39) Y178N probably benign Het
Pcdhga11 C T 18: 37,890,183 (GRCm39) T397M possibly damaging Het
Pdlim5 G T 3: 141,964,946 (GRCm39) H428N probably damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Rgs3 A G 4: 62,619,349 (GRCm39) D478G possibly damaging Het
Scgb2b11 C T 7: 31,909,883 (GRCm39) E68K probably damaging Het
Sema4b C A 7: 79,869,995 (GRCm39) Q428K probably benign Het
Semp2l2a A T 8: 13,887,995 (GRCm39) I32K probably benign Het
Serpine2 T C 1: 79,780,622 (GRCm39) T276A probably benign Het
Sgo2b G A 8: 64,393,108 (GRCm39) H110Y probably benign Het
Slc12a7 T C 13: 73,954,208 (GRCm39) L833S probably benign Het
Slc6a15 T A 10: 103,229,241 (GRCm39) probably null Het
Srfbp1 G A 18: 52,608,671 (GRCm39) V24I probably damaging Het
Stpg2 A T 3: 139,407,458 (GRCm39) N537Y probably damaging Het
Svep1 A T 4: 58,087,782 (GRCm39) S1766T probably benign Het
Tiam2 T A 17: 3,532,880 (GRCm39) M1K probably null Het
Tmem245 A T 4: 56,899,170 (GRCm39) I661K possibly damaging Het
Trim5 T C 7: 103,928,569 (GRCm39) H124R probably damaging Het
Trim67 T A 8: 125,547,024 (GRCm39) L478Q probably damaging Het
Triml2 A G 8: 43,646,357 (GRCm39) D282G probably damaging Het
Txndc11 T C 16: 10,905,793 (GRCm39) Y579C probably damaging Het
Ube3c T A 5: 29,824,629 (GRCm39) D551E probably damaging Het
Vmn1r194 T C 13: 22,428,767 (GRCm39) V128A not run Het
Vmn2r130 T A 17: 23,296,006 (GRCm39) D725E probably damaging Het
Vmn2r70 T G 7: 85,218,130 (GRCm39) N56T probably damaging Het
Wdr95 T C 5: 149,517,945 (GRCm39) V501A possibly damaging Het
Zc3h8 T C 2: 128,772,742 (GRCm39) T249A probably damaging Het
Zfp54 T C 17: 21,654,501 (GRCm39) C332R probably damaging Het
Other mutations in Matn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Matn2 APN 15 34,428,616 (GRCm39) missense probably damaging 1.00
IGL00392:Matn2 APN 15 34,403,002 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATAATTCCCAGCTTGCCTCAG -3'
(R):5'- TCAACATTTGGAGTGGGTAGTAC -3'

Sequencing Primer
(F):5'- AGTATTCAGCAGCTCTTTCCAGGG -3'
(R):5'- TGGGTAGTACTAACAGTGACACTTG -3'
Posted On 2019-11-12