Incidental Mutation 'R4823:Frem3'
ID 371299
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 042439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4823 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81340587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 960 (M960K)
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: M960K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: M960K

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 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (96/98)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,120,457 (GRCm39) D405N probably benign Het
4921517D22Rik T G 13: 59,838,718 (GRCm39) E38A probably damaging Het
4930433I11Rik A T 7: 40,642,786 (GRCm39) I152F probably benign Het
Aass A T 6: 23,107,690 (GRCm39) D364E probably benign Het
Adamts2 A G 11: 50,628,014 (GRCm39) D238G probably benign Het
Albfm1 T A 5: 90,714,362 (GRCm39) L124H probably benign Het
Aoc1l1 A G 6: 48,952,195 (GRCm39) D40G probably damaging Het
Aplf G A 6: 87,623,237 (GRCm39) L302F probably damaging Het
Apol7b G T 15: 77,311,982 (GRCm39) probably benign Het
Arhgef12 A G 9: 42,931,992 (GRCm39) V165A probably benign Het
Ascc3 T C 10: 50,589,329 (GRCm39) S1017P probably damaging Het
B230104I21Rik T A 4: 154,434,204 (GRCm39) probably benign Het
Bfsp2 C A 9: 103,357,082 (GRCm39) C115F probably damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Capn5 A T 7: 97,775,648 (GRCm39) V431E probably damaging Het
Ccdc88c A G 12: 100,896,802 (GRCm39) Y1390H probably damaging Het
Ccr3 A G 9: 123,828,718 (GRCm39) T18A probably damaging Het
Cdh5 T C 8: 104,869,301 (GRCm39) S676P probably benign Het
Ceacam5 A G 7: 17,491,669 (GRCm39) T680A possibly damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cfd T C 10: 79,726,782 (GRCm39) V8A probably benign Het
Cops9 C T 1: 92,569,588 (GRCm39) probably benign Het
Cpne6 T C 14: 55,754,467 (GRCm39) Y533H probably damaging Het
Cyp2c67 T A 19: 39,604,168 (GRCm39) H396L probably benign Het
Cyp2j9 G A 4: 96,456,972 (GRCm39) P500S possibly damaging Het
Cyp4a12a A T 4: 115,184,610 (GRCm39) probably null Het
Dbt G A 3: 116,317,036 (GRCm39) D71N probably damaging Het
Ddx41 G T 13: 55,679,868 (GRCm39) Q440K probably benign Het
Elovl4 A G 9: 83,662,738 (GRCm39) F174S probably damaging Het
Emcn C G 3: 137,129,187 (GRCm39) P193R probably damaging Het
Etnk1 T C 6: 143,113,364 (GRCm39) probably null Het
Fads3 A C 19: 10,019,252 (GRCm39) S53R probably damaging Het
Fam193a A G 5: 34,616,372 (GRCm39) E849G probably damaging Het
Fat3 A G 9: 15,907,803 (GRCm39) V2733A probably benign Het
Frmd6 A T 12: 70,919,349 (GRCm39) I62L probably benign Het
Glmp T C 3: 88,232,530 (GRCm39) probably benign Het
Gm17421 T C 12: 113,333,161 (GRCm39) noncoding transcript Het
Gm27013 T A 6: 130,499,186 (GRCm39) noncoding transcript Het
Gtf2ird1 A G 5: 134,424,576 (GRCm39) V390A probably damaging Het
Hps3 A G 3: 20,066,890 (GRCm39) Y559H probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr3 A G 17: 27,304,121 (GRCm39) D114G probably benign Het
Jmjd4 G A 11: 59,346,406 (GRCm39) A408T probably benign Het
Kcnh4 G T 11: 100,646,000 (GRCm39) A316D probably damaging Het
Klrg1 T A 6: 122,250,492 (GRCm39) probably null Het
Lancl2 T A 6: 57,709,262 (GRCm39) Y355N probably damaging Het
Ltb T C 17: 35,414,206 (GRCm39) S115P probably benign Het
Mccc2 T G 13: 100,136,762 (GRCm39) R64S probably benign Het
Mgam2-ps T A 6: 40,809,596 (GRCm39) noncoding transcript Het
Mrrf T G 2: 36,038,042 (GRCm39) N104K possibly damaging Het
Nipa1 C A 7: 55,629,436 (GRCm39) V226L possibly damaging Het
Numa1 T A 7: 101,645,244 (GRCm39) L290Q probably damaging Het
Ofcc1 T A 13: 40,433,949 (GRCm39) H52L probably damaging Het
Ogfod3 G A 11: 121,086,027 (GRCm39) A189V probably benign Het
Or14c39 T A 7: 86,343,796 (GRCm39) I44N probably damaging Het
Or5b21 A T 19: 12,839,180 (GRCm39) I14F probably benign Het
Or5d46 A G 2: 88,170,179 (GRCm39) D90G probably damaging Het
Or9i1b G A 19: 13,897,022 (GRCm39) V213I probably benign Het
P2ry12 G A 3: 59,125,318 (GRCm39) S119L probably benign Het
Pde7b T A 10: 20,314,531 (GRCm39) N192Y probably damaging Het
Pfkl T C 10: 77,833,428 (GRCm39) N258S probably damaging Het
Phykpl G A 11: 51,477,420 (GRCm39) A71T probably damaging Het
Ppp1r16a T C 15: 76,577,393 (GRCm39) probably benign Het
Pramel15 T C 4: 144,099,781 (GRCm39) N328S possibly damaging Het
Pramel32 T C 4: 88,547,452 (GRCm39) K160R probably damaging Het
Prune2 C T 19: 17,097,868 (GRCm39) T1124M probably damaging Het
Rapgef6 A G 11: 54,585,326 (GRCm39) I1570V probably benign Het
Rbm34 T C 8: 127,697,655 (GRCm39) S19G probably benign Het
Rnf10 T C 5: 115,393,501 (GRCm39) probably null Het
Rnf34 A G 5: 122,988,365 (GRCm39) probably null Het
Setd4 A G 16: 93,386,838 (GRCm39) S287P probably benign Het
Shc3 C T 13: 51,605,606 (GRCm39) V225I probably benign Het
Sipa1l3 C T 7: 29,070,427 (GRCm39) V1030I probably damaging Het
Siva1 G T 12: 112,611,498 (GRCm39) R33L probably damaging Het
Slc4a5 C T 6: 83,249,115 (GRCm39) T573I probably damaging Het
Sorcs1 C T 19: 50,666,578 (GRCm39) R110Q possibly damaging Het
Sorcs1 T C 19: 50,218,740 (GRCm39) I581V possibly damaging Het
Sorl1 T C 9: 41,903,617 (GRCm39) D1545G probably damaging Het
Tas2r124 T G 6: 132,732,509 (GRCm39) S273A probably damaging Het
Tcf15 T C 2: 151,985,813 (GRCm39) F90L probably damaging Het
Trim59 G A 3: 68,944,453 (GRCm39) R296C probably benign Het
Tulp1 A T 17: 28,572,546 (GRCm39) D229E probably benign Het
Ush1c T A 7: 45,845,157 (GRCm39) N886I probably benign Het
Usp9y A T Y: 1,444,559 (GRCm39) S127T probably damaging Het
Vmn1r19 T A 6: 57,382,219 (GRCm39) Y257* probably null Het
Vmn2r109 A T 17: 20,774,153 (GRCm39) Y401N probably damaging Het
Vmn2r69 A C 7: 85,060,508 (GRCm39) S359A probably benign Het
Zfp37 A T 4: 62,109,740 (GRCm39) N479K 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
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
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'- GGGAGCATCTCTTATCAGAACAG -3'
(R):5'- ATCATGCACCCTTTGGAAGC -3'

Sequencing Primer
(F):5'- GACCAGACTGACAGTGACGTC -3'
(R):5'- CTTTGGAAGCCAATTTCACCACTAG -3'
Posted On 2016-03-01