Incidental Mutation 'R8794:Frem3'
ID 671112
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 068723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R8794 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81342851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1715 (M1715L)
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039695
AA Change: M1715L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: M1715L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,939 (GRCm39) V498D unknown Het
Actn1 C T 12: 80,245,754 (GRCm39) probably benign Het
Actrt2 T C 4: 154,751,176 (GRCm39) E320G probably damaging Het
Adamts7 C T 9: 90,076,239 (GRCm39) Q1265* probably null Het
Adra1a A G 14: 66,875,064 (GRCm39) N13S probably benign Het
Alpk3 G T 7: 80,707,403 (GRCm39) R9L unknown Het
Ankrd42 A G 7: 92,263,674 (GRCm39) F225L probably benign Het
C3 T C 17: 57,528,011 (GRCm39) E736G probably benign Het
Ccng1 A G 11: 40,644,826 (GRCm39) S24P probably benign Het
Cdc42bpa A T 1: 179,894,816 (GRCm39) N332I probably damaging Het
Cep131 G A 11: 119,972,074 (GRCm39) P90S probably benign Het
Chd8 A G 14: 52,441,904 (GRCm39) S2154P probably damaging Het
Cilp A G 9: 65,186,535 (GRCm39) S877G probably benign Het
Clic6 T A 16: 92,324,987 (GRCm39) S382T possibly damaging Het
Coq8a G T 1: 180,006,773 (GRCm39) P85Q probably benign Het
Creb3l4 A G 3: 90,145,225 (GRCm39) I309T probably benign Het
Cux2 T C 5: 122,007,306 (GRCm39) E785G probably benign Het
Cyfip2 A G 11: 46,144,800 (GRCm39) F685L possibly damaging Het
Epha6 T C 16: 60,026,035 (GRCm39) D469G probably benign Het
Erc1 A T 6: 119,607,616 (GRCm39) V962E probably damaging Het
Esrrb A T 12: 86,517,038 (GRCm39) S57C probably damaging Het
Fam169a A G 13: 97,250,628 (GRCm39) T320A possibly damaging Het
Farsb C T 1: 78,401,678 (GRCm39) probably benign Het
Frmpd1 A G 4: 45,279,632 (GRCm39) T786A probably benign Het
Gapvd1 A T 2: 34,594,330 (GRCm39) S886T possibly damaging Het
Gba2 A G 4: 43,568,077 (GRCm39) S737P probably damaging Het
Gm525 A G 11: 88,979,479 (GRCm39) N85S probably damaging Het
Gnpda1 T A 18: 38,465,091 (GRCm39) D175V probably benign Het
Heatr5b T C 17: 79,123,015 (GRCm39) I655V probably benign Het
Hmcn1 G A 1: 150,591,469 (GRCm39) T1910I probably benign Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Ier2 A T 8: 85,389,096 (GRCm39) D95E probably damaging Het
Ifi208 A G 1: 173,523,370 (GRCm39) R547G possibly damaging Het
Itih3 T A 14: 30,634,854 (GRCm39) S639C possibly damaging Het
Kif19b A G 5: 140,461,785 (GRCm39) E529G probably damaging Het
Marchf7 G A 2: 60,074,015 (GRCm39) probably null Het
Mep1b A C 18: 21,224,325 (GRCm39) T373P probably damaging Het
Mlh3 G A 12: 85,282,497 (GRCm39) P1379S probably damaging Het
Nav3 T A 10: 109,605,032 (GRCm39) K1014* probably null Het
Nme1 A T 11: 93,851,658 (GRCm39) F78I probably benign Het
Nos3 T A 5: 24,576,745 (GRCm39) V458D probably damaging Het
Noxa1 A G 2: 24,984,852 (GRCm39) F29L probably benign Het
Nrcam G A 12: 44,624,958 (GRCm39) G1055D probably benign Het
Nutf2 A T 8: 106,602,171 (GRCm39) probably benign Het
Oog3 A G 4: 143,884,556 (GRCm39) I460T probably benign Het
Or4b1b A T 2: 90,112,150 (GRCm39) Y256* probably null Het
Or4c113 T C 2: 88,885,477 (GRCm39) M98V probably benign Het
Or5p78 A T 7: 108,211,580 (GRCm39) D22V probably benign Het
Or7e175 A T 9: 20,048,630 (GRCm39) M73L possibly damaging Het
Pde2a A T 7: 101,155,136 (GRCm39) Y559F possibly damaging Het
Pde6d G A 1: 86,475,209 (GRCm39) Q61* probably null Het
Pdpr A G 8: 111,852,240 (GRCm39) T536A possibly damaging Het
Pias4 T A 10: 80,999,846 (GRCm39) K69M probably damaging Het
Pigo A T 4: 43,023,787 (GRCm39) D188E possibly damaging Het
Pik3r2 A G 8: 71,224,007 (GRCm39) V270A probably benign Het
Plod2 T A 9: 92,482,801 (GRCm39) W456R probably damaging Het
Pmpcb T C 5: 21,961,832 (GRCm39) V450A probably benign Het
Poln G A 5: 34,286,871 (GRCm39) T99I possibly damaging Het
Prg2 A G 2: 84,812,404 (GRCm39) D38G possibly damaging Het
Psmd7 A C 8: 108,310,831 (GRCm39) Y138D probably damaging Het
Ptprk T A 10: 28,139,504 (GRCm39) Y76* probably null Het
Ranbp2 T A 10: 58,328,414 (GRCm39) V2810E probably damaging Het
Rgma A T 7: 73,067,648 (GRCm39) H411L probably damaging Het
Sapcd1 T C 17: 35,246,814 (GRCm39) T25A probably damaging Het
Serpinb6e T C 13: 34,024,977 (GRCm39) I105V possibly damaging Het
Serpinb9f A T 13: 33,513,396 (GRCm39) T158S probably benign Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Skint6 A T 4: 113,049,869 (GRCm39) S265R possibly damaging Het
Slc23a2 A T 2: 131,902,629 (GRCm39) F524L probably benign Het
Slc2a13 C A 15: 91,234,302 (GRCm39) G345C probably damaging Het
Sp110 A G 1: 85,511,231 (GRCm39) probably null Het
Srcin1 A G 11: 97,439,803 (GRCm39) V109A probably benign Het
Tfcp2l1 A G 1: 118,560,118 (GRCm39) N70S probably damaging Het
Tmem30c T A 16: 57,090,553 (GRCm39) H218L probably benign Het
Tmprss11d G A 5: 86,486,680 (GRCm39) T70I probably damaging Het
Tnpo2 A T 8: 85,765,114 (GRCm39) Q32L probably benign Het
Trav16n A C 14: 53,588,867 (GRCm39) T48P probably damaging Het
Ufc1 A G 1: 171,117,095 (GRCm39) Y110H probably damaging Het
Wars2 A G 3: 99,123,888 (GRCm39) K250E probably damaging Het
Wdfy4 G T 14: 32,869,049 (GRCm39) N326K probably benign Het
Xirp2 A T 2: 67,341,557 (GRCm39) E1266V probably damaging Het
Zfp423 A C 8: 88,507,857 (GRCm39) L829R probably damaging Het
Zfp735 A G 11: 73,603,029 (GRCm39) K658E possibly damaging Het
Zscan12 T A 13: 21,547,847 (GRCm39) C10S possibly damaging Het
Zswim3 T A 2: 164,662,687 (GRCm39) M389K probably 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
R0647:Frem3 UTSW 8 81,341,814 (GRCm39) missense probably damaging 1.00
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 81,338,907 (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'- ACAGCCTTGAAGCTCCTTC -3'
(R):5'- TGCCATTCCTAACTTCAAAACATGC -3'

Sequencing Primer
(F):5'- TTCACACTGGACACTTGGG -3'
(R):5'- AGGCGTAATTACAATGTTCATTGG -3'
Posted On 2021-04-30