Incidental Mutation 'R0690:Frem3'
ID 61348
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 038875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0690 (G1)
Quality Score 195
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81340581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 958 (I958N)
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: I958N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: I958N

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 0.3901 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (87/90)
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
Abca8b T A 11: 109,860,634 (GRCm39) probably benign Het
Abi3 T C 11: 95,724,460 (GRCm39) probably benign Het
Adam2 T C 14: 66,295,095 (GRCm39) N250S probably damaging Het
Agbl4 T A 4: 111,514,585 (GRCm39) I532K probably benign Het
Agrn T G 4: 156,258,910 (GRCm39) E905A probably damaging Het
Ahi1 A G 10: 20,846,742 (GRCm39) probably benign Het
Aifm2 A G 10: 61,562,231 (GRCm39) N89S probably benign Het
Arsj C T 3: 126,231,833 (GRCm39) T193I probably damaging Het
Ascc2 T A 11: 4,632,933 (GRCm39) V702E probably damaging Het
Avpr1b T C 1: 131,528,019 (GRCm39) S181P probably damaging Het
Bcl7a G A 5: 123,490,003 (GRCm39) V56I possibly damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Celsr2 C A 3: 108,322,293 (GRCm39) R173M probably damaging Het
Cfap57 A G 4: 118,426,924 (GRCm39) probably benign Het
Cfap69 G A 5: 5,713,951 (GRCm39) T27I probably damaging Het
Chaf1b T C 16: 93,696,905 (GRCm39) probably benign Het
Cldn8 C T 16: 88,359,527 (GRCm39) V133M probably damaging Het
Col2a1 A T 15: 97,878,073 (GRCm39) V954E unknown Het
Col6a4 T C 9: 105,905,386 (GRCm39) probably benign Het
Col6a6 T C 9: 105,586,685 (GRCm39) M1779V probably benign Het
Coq8b A G 7: 26,941,674 (GRCm39) E253G probably benign Het
Ctse T C 1: 131,602,516 (GRCm39) probably benign Het
Cyp2c29 T A 19: 39,298,170 (GRCm39) N238K probably benign Het
Dcaf1 T A 9: 106,723,848 (GRCm39) probably benign Het
Dcc A T 18: 71,942,275 (GRCm39) probably benign Het
Dkk1 A G 19: 30,526,745 (GRCm39) F12S probably benign Het
Dnah6 A G 6: 73,106,457 (GRCm39) V1760A probably benign Het
Fam117b G A 1: 59,997,512 (GRCm39) S288N possibly damaging Het
Fam216a A T 5: 122,505,709 (GRCm39) M110K probably damaging Het
Gab1 T A 8: 81,526,745 (GRCm39) N118Y probably damaging Het
Gda T A 19: 21,387,251 (GRCm39) I251L probably benign Het
Gli2 C A 1: 118,772,190 (GRCm39) R505L probably damaging Het
Gm5093 A T 17: 46,750,664 (GRCm39) I121N possibly damaging Het
Gpnmb C T 6: 49,024,949 (GRCm39) S327L probably benign Het
Gpr156 T A 16: 37,812,503 (GRCm39) Y280N probably damaging Het
Gria4 A G 9: 4,427,071 (GRCm39) Y790H probably damaging Het
Guf1 C A 5: 69,723,695 (GRCm39) probably null Het
H6pd T C 4: 150,067,030 (GRCm39) E452G possibly damaging Het
Herc1 T A 9: 66,294,120 (GRCm39) Y487* probably null Het
Ifi30 T A 8: 71,217,593 (GRCm39) probably benign Het
Klf13 G A 7: 63,587,819 (GRCm39) A159V possibly damaging Het
Med11 T A 11: 70,344,052 (GRCm39) M124K possibly damaging Het
Myom3 A G 4: 135,515,737 (GRCm39) probably benign Het
Nat2 A T 8: 67,954,456 (GRCm39) I189F probably damaging Het
Nhlrc4 C G 17: 26,162,658 (GRCm39) G30R probably damaging Het
Nkx3-2 G A 5: 41,919,470 (GRCm39) R173C probably damaging Het
Nox3 T C 17: 3,745,839 (GRCm39) N23S probably damaging Het
Npr2 A T 4: 43,646,991 (GRCm39) Y708F probably damaging Het
Nsun2 A G 13: 69,777,661 (GRCm39) N409S probably benign Het
Nucb2 T C 7: 116,135,086 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,700 (GRCm39) F179L possibly damaging Het
Or5be3 A G 2: 86,864,226 (GRCm39) F113S probably damaging Het
Or8b12 T C 9: 37,657,513 (GRCm39) F28L probably benign Het
Orai2 A T 5: 136,190,453 (GRCm39) V52D probably damaging Het
Pcyox1 A T 6: 86,371,424 (GRCm39) M154K probably damaging Het
Pik3r4 C A 9: 105,531,175 (GRCm39) T492K possibly damaging Het
Pmpca T A 2: 26,281,109 (GRCm39) Y150N probably damaging Het
Ppp1r12b G T 1: 134,803,820 (GRCm39) S446R probably damaging Het
Ptpdc1 A G 13: 48,740,381 (GRCm39) I289T probably benign Het
Pyroxd2 A G 19: 42,716,081 (GRCm39) probably benign Het
Qrfpr G A 3: 36,243,708 (GRCm39) T131M probably damaging Het
Rab33b A G 3: 51,400,838 (GRCm39) Y104C probably damaging Het
Rad54l G T 4: 115,956,947 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,359 (GRCm39) probably null Het
Slc1a5 A T 7: 16,520,829 (GRCm39) M233L probably benign Het
Slc47a2 C T 11: 61,233,330 (GRCm39) V67I possibly damaging Het
Slco1a5 T A 6: 142,214,004 (GRCm39) Y39F probably benign Het
Slfn5 T C 11: 82,852,229 (GRCm39) V785A probably damaging Het
Sp6 C T 11: 96,912,370 (GRCm39) P28S possibly damaging Het
Sptbn5 A G 2: 119,893,156 (GRCm39) probably null Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
St8sia1 A G 6: 142,774,980 (GRCm39) W200R probably damaging Het
Stxbp1 C A 2: 32,690,707 (GRCm39) probably benign Het
Syne1 A G 10: 4,983,138 (GRCm39) probably benign Het
Thbs3 T A 3: 89,127,472 (GRCm39) I371N possibly damaging Het
Tll1 C T 8: 64,527,324 (GRCm39) S399N probably damaging Het
Tmem209 A C 6: 30,505,833 (GRCm39) C114G probably null Het
Tmem25 C T 9: 44,706,811 (GRCm39) probably benign Het
Tmem8b T C 4: 43,674,562 (GRCm39) I282T possibly damaging Het
Trdmt1 T A 2: 13,549,391 (GRCm39) H18L probably benign Het
Trim63 A G 4: 134,043,716 (GRCm39) T60A probably benign Het
Trpv2 T C 11: 62,475,502 (GRCm39) probably null Het
Ubr2 A T 17: 47,249,579 (GRCm39) I1591K probably damaging Het
Use1 A T 8: 71,819,709 (GRCm39) probably benign Het
Zfp850 A T 7: 27,684,642 (GRCm39) C35S 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
R0647:Frem3 UTSW 8 81,341,814 (GRCm39) missense probably damaging 1.00
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'- CCCCACAGAGGAATCTTGGCATTG -3'
(R):5'- AGTGTGAACATAGCTGACTGCCCC -3'

Sequencing Primer
(F):5'- TGGGAGCATCTCTTATCAGAACAG -3'
(R):5'- TGACTGCCCCACCAAGG -3'
Posted On 2013-07-30