Incidental Mutation 'R0089:Frem3'
ID 20065
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 038376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0089 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81342507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1600 (H1600L)
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039695
AA Change: H1600L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: H1600L

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
Meta Mutation Damage Score 0.2945 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (82/84)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,282,303 (GRCm39) H163L probably benign Het
Abca13 T A 11: 9,242,886 (GRCm39) V1583E possibly damaging Het
Ablim1 G T 19: 57,031,463 (GRCm39) S654Y probably damaging Het
Acbd4 T C 11: 102,994,819 (GRCm39) F59S probably damaging Het
Acot1 T C 12: 84,063,708 (GRCm39) I272T probably damaging Het
Ankhd1 A G 18: 36,773,409 (GRCm39) D1402G probably damaging Het
Birc6 T A 17: 74,945,371 (GRCm39) F2800I possibly damaging Het
Brd1 T C 15: 88,585,401 (GRCm39) E811G probably benign Het
Catspere2 C T 1: 177,874,555 (GRCm39) P141S unknown Het
Ccdc106 A G 7: 5,059,220 (GRCm39) probably null Het
Ccdc81 G T 7: 89,542,324 (GRCm39) A184E possibly damaging Het
Cenpt T C 8: 106,573,000 (GRCm39) T364A probably benign Het
Crybg2 T C 4: 133,808,505 (GRCm39) S1060P probably damaging Het
Dnttip2 A G 3: 122,069,111 (GRCm39) T109A possibly damaging Het
Dpy19l2 A G 9: 24,607,089 (GRCm39) L124P probably benign Het
Eif1ad19 A T 12: 87,740,283 (GRCm39) I92N probably damaging Het
Fat3 T C 9: 15,849,501 (GRCm39) D3967G probably benign Het
Fbxo21 T A 5: 118,146,208 (GRCm39) F610L probably benign Het
Fmo9 T C 1: 166,494,878 (GRCm39) D341G probably benign Het
Fry A T 5: 150,263,892 (GRCm39) K133N possibly damaging Het
Gm10647 A G 9: 66,705,612 (GRCm39) probably benign Het
Gmps T C 3: 63,906,119 (GRCm39) F472S probably benign Het
Grb10 T C 11: 11,884,192 (GRCm39) probably benign Het
Grm6 G A 11: 50,750,792 (GRCm39) G652S probably damaging Het
Heca G T 10: 17,783,848 (GRCm39) D468E probably damaging Het
Heg1 C T 16: 33,583,985 (GRCm39) S1033L probably damaging Het
Hepacam2 A G 6: 3,487,094 (GRCm39) S12P probably damaging Het
Impdh1 G T 6: 29,206,325 (GRCm39) H195N probably benign Het
Ipo7 T C 7: 109,649,972 (GRCm39) probably benign Het
Itpr2 C T 6: 146,251,520 (GRCm39) probably null Het
Kcnh6 G A 11: 105,899,848 (GRCm39) C39Y probably benign Het
Kif26a T C 12: 112,143,837 (GRCm39) S1364P probably damaging Het
Lins1 T A 7: 66,361,796 (GRCm39) probably benign Het
Lrpap1 C T 5: 35,252,232 (GRCm39) V328M possibly damaging Het
Lyn T G 4: 3,748,768 (GRCm39) L249V probably benign Het
Mpp7 A G 18: 7,439,555 (GRCm39) probably benign Het
Mtmr9 A G 14: 63,765,696 (GRCm39) F400L possibly damaging Het
Mto1 G A 9: 78,381,154 (GRCm39) S666N probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nsg1 T C 5: 38,312,974 (GRCm39) E75G probably benign Het
Nsun4 A G 4: 115,892,970 (GRCm39) M283T probably benign Het
Obscn A G 11: 58,890,888 (GRCm39) S7215P unknown Het
Or11j4 T C 14: 50,630,321 (GRCm39) I36T probably benign Het
Or13a20 T C 7: 140,232,224 (GRCm39) S111P probably damaging Het
Or1j12 G A 2: 36,343,107 (GRCm39) R170K probably benign Het
Or2y13 G A 11: 49,415,033 (GRCm39) S161N possibly damaging Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5al1 A C 2: 85,989,918 (GRCm39) S265R possibly damaging Het
Or9m1b T C 2: 87,836,331 (GRCm39) I264V probably damaging Het
Per1 T C 11: 68,994,869 (GRCm39) F563S probably benign Het
Pik3c3 T A 18: 30,436,131 (GRCm39) probably benign Het
Pitrm1 A T 13: 6,605,675 (GRCm39) K207N probably damaging Het
Prdm10 C T 9: 31,227,526 (GRCm39) R44C probably damaging Het
Rab40c A T 17: 26,104,122 (GRCm39) I90N probably damaging Het
Rbl1 A G 2: 157,041,334 (GRCm39) probably null Het
Rnf17 G A 14: 56,751,563 (GRCm39) G1467E probably damaging Het
Rpgrip1 A G 14: 52,386,841 (GRCm39) probably benign Het
Sall1 A T 8: 89,756,896 (GRCm39) N1069K probably benign Het
Scap T C 9: 110,201,290 (GRCm39) I93T possibly damaging Het
Sez6 T C 11: 77,865,170 (GRCm39) probably benign Het
Slc22a30 A T 19: 8,347,561 (GRCm39) S280T probably benign Het
Slc26a5 A C 5: 22,016,342 (GRCm39) probably null Het
St18 T C 1: 6,919,172 (GRCm39) V901A probably benign Het
Syne2 T C 12: 76,010,650 (GRCm39) L2519P probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tmem51 T C 4: 141,759,236 (GRCm39) T171A probably benign Het
Tns4 A T 11: 98,966,024 (GRCm39) I453N probably damaging Het
Trank1 A T 9: 111,221,978 (GRCm39) H2905L probably benign Het
Trim13 C T 14: 61,842,166 (GRCm39) T61I possibly damaging Het
Trim75 T C 8: 65,435,580 (GRCm39) Q290R possibly damaging Het
Ttn C A 2: 76,559,544 (GRCm39) R29619L probably damaging Het
Ugt2b38 T A 5: 87,568,417 (GRCm39) M293L probably benign Het
Vmn1r22 T A 6: 57,877,513 (GRCm39) N155Y probably benign Het
Vmn2r18 T C 5: 151,508,269 (GRCm39) Y285C probably benign Het
Vmn2r84 C T 10: 130,222,588 (GRCm39) probably benign Het
Vwde A C 6: 13,220,004 (GRCm39) L49R probably damaging Het
Yipf2 T A 9: 21,503,262 (GRCm39) E68D possibly damaging Het
Zfand5 C A 19: 21,257,122 (GRCm39) probably benign 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
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 81,342,851 (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'- TGACTATCCAAGCACTAGCCCTGC -3'
(R):5'- ACCCAAGTGTCCAGTGTGAAGGAG -3'

Sequencing Primer
(F):5'- GCACTAGCCCTGCAAAGAG -3'
(R):5'- TCGTCAAAGGGGCTTATCTG -3'
Posted On 2013-04-11