Incidental Mutation 'R0647:Frem3'
ID 57269
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 038832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0647 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81341814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1369 (E1369G)
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039695
AA Change: E1369G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: E1369G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Cadherin_3 369 515 9.5e-31 PFAM
Pfam:Cadherin_3 495 596 9.4e-20 PFAM
Pfam:Cadherin_3 637 786 4.2e-20 PFAM
Pfam:Cadherin_3 788 913 5.5e-23 PFAM
Pfam:Cadherin_3 998 1163 1.8e-20 PFAM
Pfam:Cadherin_3 1129 1254 1.3e-19 PFAM
Pfam:Cadherin_3 1250 1395 9.5e-34 PFAM
Pfam:Cadherin_3 1397 1508 2.7e-21 PFAM
Pfam:Cadherin_3 1493 1617 1.2e-27 PFAM
Pfam:Cadherin_3 1622 1748 4.8e-17 PFAM
Calx_beta 1754 1853 1.45e-7 SMART
Calx_beta 1866 1977 3.35e-12 SMART
Calx_beta 1991 2098 1.61e-5 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 C A 11: 50,494,265 (GRCm39) T113K probably damaging Het
Adgre1 T A 17: 57,718,003 (GRCm39) N338K probably damaging Het
Aggf1 A T 13: 95,508,164 (GRCm39) probably null Het
Apc2 A T 10: 80,140,762 (GRCm39) I206F probably damaging Het
Carmil3 T C 14: 55,739,892 (GRCm39) probably null Het
Ccdc110 A C 8: 46,396,425 (GRCm39) E772A probably damaging Het
Cdh23 A G 10: 60,143,681 (GRCm39) F2977L probably damaging Het
Cdh23 A T 10: 60,159,153 (GRCm39) Y2207* probably null Het
Cfap20dc T A 14: 8,536,655 (GRCm38) D184V possibly damaging Het
Chd4 T A 6: 125,086,086 (GRCm39) N908K probably damaging Het
Chst9 A G 18: 15,585,726 (GRCm39) I279T probably damaging Het
Ctnna3 A T 10: 63,656,203 (GRCm39) N261I probably benign Het
Dlgap2 A T 8: 14,777,591 (GRCm39) S279C possibly damaging Het
Dock4 G A 12: 40,760,883 (GRCm39) E524K probably damaging Het
Fabp12 T A 3: 10,311,096 (GRCm39) N122I possibly damaging Het
Fam184b T C 5: 45,741,932 (GRCm39) T100A probably benign Het
Fbxl5 T C 5: 43,925,411 (GRCm39) D176G probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Foxe1 A G 4: 46,344,477 (GRCm39) N95S possibly damaging Het
Frmpd4 C T X: 166,272,006 (GRCm39) E483K probably damaging Het
Gbp11 T C 5: 105,478,830 (GRCm39) K203E possibly damaging Het
Hs3st6 C T 17: 24,977,134 (GRCm39) R205C probably damaging Het
Ifitm10 C T 7: 141,909,772 (GRCm39) S179N probably damaging Het
Irx2 A C 13: 72,778,799 (GRCm39) N121T probably damaging Het
Itih1 A T 14: 30,657,820 (GRCm39) V417E probably damaging Het
Itpr1 A C 6: 108,360,659 (GRCm39) E695A probably damaging Het
Kif1c T A 11: 70,616,967 (GRCm39) I755K probably damaging Het
Lamb3 A G 1: 193,013,104 (GRCm39) E443G probably damaging Het
Lrp1 G C 10: 127,407,346 (GRCm39) T1865R probably damaging Het
Lrrc8b T A 5: 105,628,473 (GRCm39) I273K possibly damaging Het
Ly9 T C 1: 171,427,376 (GRCm39) Y393C probably damaging Het
Mphosph8 T C 14: 56,911,862 (GRCm39) V295A probably benign Het
Nlrp5 T A 7: 23,117,132 (GRCm39) D269E probably damaging Het
Or1r1 G A 11: 73,874,597 (GRCm39) A279V probably damaging Het
Or2t6 T G 14: 14,175,858 (GRCm38) T75P probably benign Het
Or4k44 A G 2: 111,367,704 (GRCm39) V310A probably benign Het
Or52u1 T G 7: 104,237,322 (GRCm39) F104V probably damaging Het
Or5p50 T A 7: 107,422,218 (GRCm39) I153F probably benign Het
Otud3 A G 4: 138,640,948 (GRCm39) L64P probably damaging Het
Pcdh17 A T 14: 84,685,213 (GRCm39) H560L possibly damaging Het
Pcdhb21 T C 18: 37,646,913 (GRCm39) V14A probably damaging Het
Prss3l A T 6: 41,420,275 (GRCm39) F150L probably benign Het
Rbfox1 A T 16: 7,042,248 (GRCm39) Q14L probably damaging Het
Rbm44 A G 1: 91,084,650 (GRCm39) D665G probably benign Het
Rc3h2 C T 2: 37,299,542 (GRCm39) V163M probably damaging Het
Sash1 T A 10: 8,605,316 (GRCm39) R1025W probably damaging Het
Sgpl1 A G 10: 60,949,267 (GRCm39) S146P probably damaging Het
Slc27a2 G A 2: 126,429,836 (GRCm39) D615N probably benign Het
Smap1 A G 1: 23,892,559 (GRCm39) I135T probably damaging Het
Snapc3 A G 4: 83,368,466 (GRCm39) D321G probably damaging Het
St6galnac4 C T 2: 32,479,460 (GRCm39) R6C probably damaging Het
Syne2 C T 12: 75,934,977 (GRCm39) P153L probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,621 (GRCm39) N1160S probably damaging Het
Trim65 G A 11: 116,019,036 (GRCm39) R168C possibly damaging Het
Txndc16 A T 14: 45,406,732 (GRCm39) I241N probably damaging Het
Txndc16 T A 14: 45,402,818 (GRCm39) R101* probably null Het
Ugt2b38 A G 5: 87,571,328 (GRCm39) S235P probably benign Het
Ugt3a1 A T 15: 9,310,635 (GRCm39) M306L probably benign Het
Vmn1r23 T A 6: 57,903,169 (GRCm39) Y203F probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Wdfy4 A G 14: 32,831,656 (GRCm39) C857R possibly damaging Het
Zfp493 A C 13: 67,931,994 (GRCm39) K31T possibly damaging Het
Other mutations in Frem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Frem3 APN 8 81,395,439 (GRCm39) missense possibly damaging 0.75
IGL01019:Frem3 APN 8 81,341,763 (GRCm39) missense probably benign 0.02
IGL01470:Frem3 APN 8 81,340,944 (GRCm39) missense probably damaging 1.00
IGL01609:Frem3 APN 8 81,339,333 (GRCm39) missense probably benign 0.00
IGL01622:Frem3 APN 8 81,340,544 (GRCm39) missense probably benign 0.01
IGL01623:Frem3 APN 8 81,340,544 (GRCm39) missense probably benign 0.01
IGL01751:Frem3 APN 8 81,342,372 (GRCm39) missense probably benign 0.33
IGL02037:Frem3 APN 8 81,338,118 (GRCm39) missense probably benign 0.31
IGL02039:Frem3 APN 8 81,339,600 (GRCm39) missense probably damaging 1.00
IGL02084:Frem3 APN 8 81,339,072 (GRCm39) missense possibly damaging 0.95
IGL02124:Frem3 APN 8 81,339,723 (GRCm39) missense probably damaging 0.99
IGL02140:Frem3 APN 8 81,340,736 (GRCm39) missense possibly damaging 0.84
IGL02836:Frem3 APN 8 81,341,010 (GRCm39) missense probably benign
IGL03090:Frem3 APN 8 81,344,858 (GRCm39) missense probably benign 0.01
IGL03102:Frem3 APN 8 81,339,661 (GRCm39) missense possibly damaging 0.92
IGL03116:Frem3 APN 8 81,339,435 (GRCm39) missense possibly damaging 0.84
IGL03165:Frem3 APN 8 81,339,158 (GRCm39) missense probably benign 0.26
IGL03224:Frem3 APN 8 81,340,092 (GRCm39) missense probably damaging 1.00
IGL03401:Frem3 APN 8 81,341,170 (GRCm39) missense probably damaging 1.00
IGL03403:Frem3 APN 8 81,337,719 (GRCm39) missense probably benign 0.04
FR4340:Frem3 UTSW 8 81,341,870 (GRCm39) small insertion probably benign
FR4976:Frem3 UTSW 8 81,341,870 (GRCm39) small insertion probably benign
IGL02991:Frem3 UTSW 8 81,395,511 (GRCm39) missense probably damaging 1.00
IGL03052:Frem3 UTSW 8 81,341,159 (GRCm39) missense probably damaging 1.00
R0089:Frem3 UTSW 8 81,342,507 (GRCm39) missense possibly damaging 0.94
R0690:Frem3 UTSW 8 81,340,581 (GRCm39) missense possibly damaging 0.84
R0766:Frem3 UTSW 8 81,341,951 (GRCm39) missense probably benign
R0834:Frem3 UTSW 8 81,413,637 (GRCm39) missense probably damaging 1.00
R0909:Frem3 UTSW 8 81,390,035 (GRCm39) missense probably benign 0.45
R1033:Frem3 UTSW 8 81,421,786 (GRCm39) missense probably benign 0.00
R1144:Frem3 UTSW 8 81,338,513 (GRCm39) missense probably benign 0.01
R1312:Frem3 UTSW 8 81,341,951 (GRCm39) missense probably benign
R1330:Frem3 UTSW 8 81,395,468 (GRCm39) missense probably damaging 0.99
R1355:Frem3 UTSW 8 81,417,331 (GRCm39) missense probably damaging 1.00
R1390:Frem3 UTSW 8 81,417,402 (GRCm39) missense probably damaging 0.99
R1413:Frem3 UTSW 8 81,395,430 (GRCm39) missense probably benign
R1470:Frem3 UTSW 8 81,337,820 (GRCm39) missense probably benign 0.05
R1470:Frem3 UTSW 8 81,337,820 (GRCm39) missense probably benign 0.05
R1503:Frem3 UTSW 8 81,413,647 (GRCm39) missense probably damaging 0.99
R1538:Frem3 UTSW 8 81,339,764 (GRCm39) missense probably benign 0.00
R1538:Frem3 UTSW 8 81,339,339 (GRCm39) missense probably damaging 1.00
R1612:Frem3 UTSW 8 81,341,490 (GRCm39) missense probably damaging 1.00
R1793:Frem3 UTSW 8 81,339,741 (GRCm39) missense probably benign 0.03
R1872:Frem3 UTSW 8 81,339,205 (GRCm39) missense probably damaging 1.00
R1879:Frem3 UTSW 8 81,338,567 (GRCm39) nonsense probably null
R1886:Frem3 UTSW 8 81,340,514 (GRCm39) missense probably benign 0.00
R1933:Frem3 UTSW 8 81,339,519 (GRCm39) missense probably benign 0.00
R2027:Frem3 UTSW 8 81,421,966 (GRCm39) missense possibly damaging 0.75
R2040:Frem3 UTSW 8 81,342,455 (GRCm39) missense possibly damaging 0.92
R2050:Frem3 UTSW 8 81,341,520 (GRCm39) missense probably damaging 1.00
R2079:Frem3 UTSW 8 81,341,732 (GRCm39) missense probably benign 0.03
R2099:Frem3 UTSW 8 81,342,488 (GRCm39) missense probably benign 0.06
R2120:Frem3 UTSW 8 81,342,086 (GRCm39) missense probably benign 0.20
R2842:Frem3 UTSW 8 81,395,978 (GRCm39) splice site probably null
R2845:Frem3 UTSW 8 81,339,849 (GRCm39) missense probably damaging 1.00
R3015:Frem3 UTSW 8 81,417,402 (GRCm39) missense probably damaging 0.99
R3442:Frem3 UTSW 8 81,339,669 (GRCm39) missense probably damaging 1.00
R3724:Frem3 UTSW 8 81,341,900 (GRCm39) missense probably benign 0.06
R3730:Frem3 UTSW 8 81,342,545 (GRCm39) missense probably damaging 0.99
R3939:Frem3 UTSW 8 81,341,649 (GRCm39) missense possibly damaging 0.84
R3940:Frem3 UTSW 8 81,341,649 (GRCm39) missense possibly damaging 0.84
R3941:Frem3 UTSW 8 81,341,649 (GRCm39) missense possibly damaging 0.84
R4089:Frem3 UTSW 8 81,341,802 (GRCm39) missense probably damaging 1.00
R4282:Frem3 UTSW 8 81,340,770 (GRCm39) missense probably benign 0.00
R4437:Frem3 UTSW 8 81,339,236 (GRCm39) missense probably benign 0.30
R4480:Frem3 UTSW 8 81,337,986 (GRCm39) missense probably benign 0.10
R4575:Frem3 UTSW 8 81,342,704 (GRCm39) missense probably benign 0.17
R4583:Frem3 UTSW 8 81,340,143 (GRCm39) missense probably benign 0.03
R4620:Frem3 UTSW 8 81,395,586 (GRCm39) missense possibly damaging 0.82
R4621:Frem3 UTSW 8 81,395,820 (GRCm39) splice site probably null
R4644:Frem3 UTSW 8 81,340,356 (GRCm39) missense probably benign 0.33
R4667:Frem3 UTSW 8 81,390,049 (GRCm39) missense probably damaging 0.97
R4748:Frem3 UTSW 8 81,338,088 (GRCm39) missense probably damaging 1.00
R4823:Frem3 UTSW 8 81,340,587 (GRCm39) missense probably benign 0.25
R4836:Frem3 UTSW 8 81,390,026 (GRCm39) missense probably damaging 0.99
R4867:Frem3 UTSW 8 81,339,912 (GRCm39) missense probably damaging 1.00
R4921:Frem3 UTSW 8 81,339,765 (GRCm39) missense possibly damaging 0.83
R5030:Frem3 UTSW 8 81,339,876 (GRCm39) missense possibly damaging 0.89
R5035:Frem3 UTSW 8 81,342,543 (GRCm39) missense probably damaging 0.97
R5172:Frem3 UTSW 8 81,339,195 (GRCm39) missense probably benign 0.44
R5289:Frem3 UTSW 8 81,338,948 (GRCm39) missense probably benign 0.00
R5492:Frem3 UTSW 8 81,339,306 (GRCm39) missense probably damaging 1.00
R5655:Frem3 UTSW 8 81,339,323 (GRCm39) missense probably benign 0.00
R5685:Frem3 UTSW 8 81,421,932 (GRCm39) missense probably damaging 1.00
R5723:Frem3 UTSW 8 81,340,026 (GRCm39) missense probably benign 0.02
R5743:Frem3 UTSW 8 81,342,407 (GRCm39) missense probably damaging 0.98
R5889:Frem3 UTSW 8 81,340,917 (GRCm39) missense probably damaging 1.00
R6048:Frem3 UTSW 8 81,340,062 (GRCm39) missense probably benign 0.03
R6057:Frem3 UTSW 8 81,342,216 (GRCm39) missense probably damaging 0.99
R6137:Frem3 UTSW 8 81,341,676 (GRCm39) missense probably benign
R6264:Frem3 UTSW 8 81,341,832 (GRCm39) missense probably damaging 1.00
R6339:Frem3 UTSW 8 81,339,644 (GRCm39) missense possibly damaging 0.84
R6418:Frem3 UTSW 8 81,337,781 (GRCm39) missense probably benign 0.08
R6680:Frem3 UTSW 8 81,395,949 (GRCm39) missense probably damaging 1.00
R6773:Frem3 UTSW 8 81,338,444 (GRCm39) missense probably damaging 1.00
R6838:Frem3 UTSW 8 81,338,660 (GRCm39) missense probably damaging 1.00
R6928:Frem3 UTSW 8 81,337,911 (GRCm39) missense possibly damaging 0.48
R6939:Frem3 UTSW 8 81,341,774 (GRCm39) missense probably benign 0.23
R6995:Frem3 UTSW 8 81,339,208 (GRCm39) missense probably damaging 0.98
R7112:Frem3 UTSW 8 81,338,660 (GRCm39) missense probably damaging 1.00
R7155:Frem3 UTSW 8 81,342,668 (GRCm39) missense probably benign 0.01
R7235:Frem3 UTSW 8 81,417,354 (GRCm39) missense probably benign 0.00
R7282:Frem3 UTSW 8 81,338,660 (GRCm39) missense probably damaging 1.00
R7403:Frem3 UTSW 8 81,342,774 (GRCm39) missense probably damaging 1.00
R7422:Frem3 UTSW 8 81,342,392 (GRCm39) missense probably benign 0.00
R7485:Frem3 UTSW 8 81,339,965 (GRCm39) missense probably damaging 1.00
R7516:Frem3 UTSW 8 81,338,712 (GRCm39) missense probably damaging 0.99
R7858:Frem3 UTSW 8 81,338,350 (GRCm39) nonsense probably null
R7976:Frem3 UTSW 8 81,338,231 (GRCm39) nonsense probably null
R8171:Frem3 UTSW 8 81,341,869 (GRCm39) missense probably damaging 1.00
R8185:Frem3 UTSW 8 81,338,933 (GRCm39) nonsense probably null
R8306:Frem3 UTSW 8 81,338,840 (GRCm39) missense possibly damaging 0.95
R8478:Frem3 UTSW 8 81,338,187 (GRCm39) missense probably damaging 1.00
R8518:Frem3 UTSW 8 81,339,224 (GRCm39) missense probably damaging 1.00
R8794:Frem3 UTSW 8 81,342,851 (GRCm39) missense probably benign 0.02
R8794:Frem3 UTSW 8 81,338,907 (GRCm39) missense probably damaging 1.00
R8806:Frem3 UTSW 8 81,390,064 (GRCm39) missense probably benign 0.30
R8833:Frem3 UTSW 8 81,339,401 (GRCm39) missense probably benign 0.29
R8879:Frem3 UTSW 8 81,339,777 (GRCm39) missense probably damaging 0.98
R8897:Frem3 UTSW 8 81,339,419 (GRCm39) missense probably damaging 1.00
R8983:Frem3 UTSW 8 81,395,875 (GRCm39) missense probably damaging 1.00
R9207:Frem3 UTSW 8 81,340,071 (GRCm39) missense possibly damaging 0.73
R9277:Frem3 UTSW 8 81,417,402 (GRCm39) missense probably damaging 0.96
R9536:Frem3 UTSW 8 81,342,048 (GRCm39) missense probably benign 0.00
R9596:Frem3 UTSW 8 81,341,951 (GRCm39) missense probably benign
R9649:Frem3 UTSW 8 81,341,145 (GRCm39) missense probably damaging 1.00
R9671:Frem3 UTSW 8 81,339,134 (GRCm39) missense probably benign 0.00
R9723:Frem3 UTSW 8 81,341,352 (GRCm39) missense probably benign
R9790:Frem3 UTSW 8 81,339,890 (GRCm39) missense probably benign 0.01
R9791:Frem3 UTSW 8 81,339,890 (GRCm39) missense probably benign 0.01
RF030:Frem3 UTSW 8 81,341,867 (GRCm39) small insertion probably benign
RF034:Frem3 UTSW 8 81,341,867 (GRCm39) small insertion probably benign
RF042:Frem3 UTSW 8 81,341,867 (GRCm39) small insertion probably benign
X0024:Frem3 UTSW 8 81,339,710 (GRCm39) missense possibly damaging 0.76
X0027:Frem3 UTSW 8 81,339,017 (GRCm39) nonsense probably null
Z1088:Frem3 UTSW 8 81,342,055 (GRCm39) missense probably benign 0.04
Z1176:Frem3 UTSW 8 81,342,060 (GRCm39) missense probably benign 0.03
Z1176:Frem3 UTSW 8 81,338,132 (GRCm39) missense probably damaging 0.99
Z1177:Frem3 UTSW 8 81,342,758 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AACGGTGCCCATTGCTGTAATTTTG -3'
(R):5'- AGTGGTGTCCTCCAGTCACTCTAAG -3'

Sequencing Primer
(F):5'- TTGACCATCAATGACGGACTG -3'
(R):5'- GTCACTCTAAGCTCAAAGTGGTC -3'
Posted On 2013-07-11