Incidental Mutation 'R6995:Frem3'
ID 544140
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 045101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81339208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 500 (D500E)
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: D500E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: D500E

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: 99.8%
  • 20x: 99.2%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,644,149 (GRCm39) Y606C probably benign Het
Acad9 A G 3: 36,139,630 (GRCm39) Y410C probably damaging Het
Acot6 C T 12: 84,156,149 (GRCm39) P366S probably damaging Het
Adrm1b T C 3: 92,336,315 (GRCm39) probably benign Het
Anks1 G T 17: 28,273,273 (GRCm39) G964V probably damaging Het
Apol7a A T 15: 77,274,176 (GRCm39) probably benign Het
Arid3c G A 4: 41,725,087 (GRCm39) A320V probably damaging Het
Bnip3l A T 14: 67,237,101 (GRCm39) N50K probably benign Het
C1qtnf4 C A 2: 90,720,297 (GRCm39) A190D probably benign Het
Calhm5 A T 10: 33,972,189 (GRCm39) M82K probably benign Het
Cdcp3 G T 7: 130,824,400 (GRCm39) W165L probably damaging Het
Cdh1 G T 8: 107,387,545 (GRCm39) V482L probably benign Het
Cdrt4 A C 11: 62,883,486 (GRCm39) I63L probably benign Het
Cic A T 7: 24,970,736 (GRCm39) T156S possibly damaging Het
Ckm A G 7: 19,154,156 (GRCm39) N301S probably benign Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Cop1 A G 1: 159,134,154 (GRCm39) D132G probably damaging Het
Cpd G T 11: 76,675,881 (GRCm39) N1257K probably benign Het
Cyp2c67 T C 19: 39,604,123 (GRCm39) H411R probably damaging Het
Cyp2r1 A T 7: 114,152,316 (GRCm39) F5I probably damaging Het
Dclk3 T A 9: 111,296,768 (GRCm39) L104Q possibly damaging Het
Dnah7c A T 1: 46,494,973 (GRCm39) Q67L probably benign Het
Dnm1l C A 16: 16,147,671 (GRCm39) E365* probably null Het
Dst A T 1: 34,205,315 (GRCm39) I502F probably damaging Het
Espl1 T C 15: 102,212,535 (GRCm39) V547A possibly damaging Het
Foxa1 C T 12: 57,589,264 (GRCm39) A319T probably benign Het
Frem1 G T 4: 82,904,838 (GRCm39) H859N probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grip1 A G 10: 119,822,375 (GRCm39) D394G probably damaging Het
Gsap C A 5: 21,476,235 (GRCm39) T589K possibly damaging Het
Gsg1l A G 7: 125,522,658 (GRCm39) V190A probably damaging Het
Kcnmb1 A T 11: 33,920,131 (GRCm39) T115S probably benign Het
Kirrel2 A C 7: 30,154,604 (GRCm39) F169C probably damaging Het
L3mbtl1 C T 2: 162,803,368 (GRCm39) T397M probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrk1 T C 7: 65,942,090 (GRCm39) D716G probably damaging Het
Matn4 G A 2: 164,231,584 (GRCm39) R582* probably null Het
Mdn1 A T 4: 32,733,374 (GRCm39) R3133W probably benign Het
Mmp7 A G 9: 7,695,489 (GRCm39) D122G probably damaging Het
Naaladl1 A G 19: 6,165,578 (GRCm39) D744G possibly damaging Het
Nampt T G 12: 32,898,742 (GRCm39) Y453D probably benign Het
Nlrp12 A G 7: 3,288,481 (GRCm39) V677A probably benign Het
Ntng2 T C 2: 29,087,080 (GRCm39) N414S probably damaging Het
Or1e16 A G 11: 73,286,410 (GRCm39) V146A probably benign Het
Or4g17 A G 2: 111,209,708 (GRCm39) D121G probably damaging Het
Or5p52 A G 7: 107,502,829 (GRCm39) R302G probably benign Het
Or9m1b A C 2: 87,836,529 (GRCm39) F189V probably benign Het
Parp4 A C 14: 56,851,196 (GRCm39) Q733P probably damaging Het
Pdcl3 G A 1: 39,034,417 (GRCm39) V56I probably benign Het
Pepd A G 7: 34,721,144 (GRCm39) Y256C probably damaging Het
Plg G T 17: 12,637,938 (GRCm39) R788L probably benign Het
Plod1 A T 4: 148,000,675 (GRCm39) probably benign Het
Ptprc A G 1: 138,016,482 (GRCm39) V513A probably damaging Het
Pxdn T C 12: 30,045,370 (GRCm39) I373T possibly damaging Het
Qrfprl A T 6: 65,418,285 (GRCm39) K151I probably damaging Het
Rbbp8 G A 18: 11,851,965 (GRCm39) G262E probably damaging Het
Rfc2 T A 5: 134,623,104 (GRCm39) Y240* probably null Het
Rps15 A G 10: 80,129,598 (GRCm39) E71G possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr1 A C 7: 28,793,607 (GRCm39) M1287R probably damaging Het
Scart2 G A 7: 139,841,514 (GRCm39) D273N probably benign Het
Serpina9 A G 12: 103,967,495 (GRCm39) L300P probably damaging Het
Sh3rf2 G A 18: 42,234,606 (GRCm39) A130T probably damaging Het
Slc12a8 G A 16: 33,355,263 (GRCm39) W26* probably null Het
Snx18 A T 13: 113,731,265 (GRCm39) H576Q probably damaging Het
Tagln3 G A 16: 45,543,321 (GRCm39) T107I probably benign Het
Thap1 C A 8: 26,652,679 (GRCm39) T139K probably damaging Het
Tle4 T A 19: 14,541,817 (GRCm39) probably null Het
Tmem87a A T 2: 120,193,409 (GRCm39) M502K possibly damaging Het
Tpcn2 A T 7: 144,810,522 (GRCm39) V605E probably benign Het
Trgj1 C A 13: 19,394,529 (GRCm39) probably benign Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Ubap2l T C 3: 89,916,548 (GRCm39) T909A probably damaging Het
Ubl4b T G 3: 107,462,140 (GRCm39) Q40P probably damaging Het
Vmn1r229 A G 17: 21,035,277 (GRCm39) D174G probably damaging Het
Vmn2r50 A T 7: 9,779,964 (GRCm39) Y472* probably null Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vmn2r74 T A 7: 85,606,860 (GRCm39) probably null Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Zfp335 G A 2: 164,735,210 (GRCm39) Q1179* probably null Het
Zmynd12 A C 4: 119,310,772 (GRCm39) K327Q probably benign Het
Zwilch G A 9: 64,072,731 (GRCm39) Q27* probably null 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
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'- GATGCCCTAAGCTTTCAGGTC -3'
(R):5'- TTCGTCTTCCAACACAAAGAGG -3'

Sequencing Primer
(F):5'- CCTAAGCTTTCAGGTCAGTGATAAAG -3'
(R):5'- GTCCTCAGAATCAATATCGGTGGC -3'
Posted On 2019-05-13