Incidental Mutation 'R5030:Frem3'
ID 391629
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 042621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81339876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 723 (D723A)
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: D723A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: D723A

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 0.7856 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (87/89)
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
4930584F24Rik A C 5: 26,684,783 (GRCm39) noncoding transcript Het
Abca15 A T 7: 119,939,224 (GRCm39) E206V probably damaging Het
Acy1 A G 9: 106,310,596 (GRCm39) F343L probably benign Het
Adam22 T C 5: 8,229,645 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,607,948 (GRCm39) D4041E probably benign Het
Akr1c14 T C 13: 4,129,102 (GRCm39) S166P probably damaging Het
Alms1 T A 6: 85,604,946 (GRCm39) C2199S probably damaging Het
Atm A T 9: 53,431,409 (GRCm39) Y316* probably null Het
Atp1a1 T C 3: 101,487,133 (GRCm39) D892G probably benign Het
Auts2 A G 5: 131,472,336 (GRCm39) V581A probably benign Het
Bltp1 A G 3: 36,997,548 (GRCm39) probably benign Het
Boll T A 1: 55,394,894 (GRCm39) N57I probably damaging Het
C1s2 A C 6: 124,612,547 (GRCm39) V36G possibly damaging Het
Capza1 T C 3: 104,748,154 (GRCm39) Y70C probably damaging Het
Carnmt1 T C 19: 18,668,950 (GRCm39) S292P possibly damaging Het
Cemip2 T G 19: 21,819,469 (GRCm39) F1087V probably benign Het
Cyp2g1 T G 7: 26,520,226 (GRCm39) V486G probably benign Het
Dennd6b T A 15: 89,080,454 (GRCm39) T49S possibly damaging Het
Dhx58 A T 11: 100,586,963 (GRCm39) I610N probably damaging Het
Elapor2 T A 5: 9,478,502 (GRCm39) N455K probably damaging Het
Fam170a T A 18: 50,415,021 (GRCm39) N222K probably benign Het
Fbn1 A G 2: 125,254,624 (GRCm39) V213A possibly damaging Het
Fsip2 A T 2: 82,818,836 (GRCm39) K4856N possibly damaging Het
Galnt17 A G 5: 130,905,351 (GRCm39) V571A probably damaging Het
Gm6124 A G 7: 38,872,454 (GRCm39) noncoding transcript Het
Gm8973 A G 15: 98,904,136 (GRCm39) noncoding transcript Het
Gpd2 A G 2: 57,194,417 (GRCm39) T107A probably damaging Het
Hsd17b11 G A 5: 104,151,158 (GRCm39) A192V probably damaging Het
Igkv6-25 C T 6: 70,192,426 (GRCm39) Q4* probably null Het
Kalrn A G 16: 33,796,112 (GRCm39) I1221T probably benign Het
Klhl9 G T 4: 88,638,771 (GRCm39) T490K possibly damaging Het
Lnpep A G 17: 17,799,571 (GRCm39) V28A probably damaging Het
Lrrc37 G A 11: 103,425,675 (GRCm39) P1419S unknown Het
Man2c1 A G 9: 57,047,923 (GRCm39) H843R probably benign Het
Map1b T C 13: 99,570,682 (GRCm39) K680E unknown Het
Metap2 A T 10: 93,715,539 (GRCm39) probably null Het
Mfsd2a A T 4: 122,843,949 (GRCm39) I340N possibly damaging Het
Mgll T C 6: 88,795,647 (GRCm39) probably null Het
Myh9 A G 15: 77,691,998 (GRCm39) probably benign Het
Ncapd3 A T 9: 26,983,062 (GRCm39) I937F probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Nova1 A G 12: 46,747,030 (GRCm39) S416P probably damaging Het
Oosp3 T C 19: 11,678,308 (GRCm39) W95R probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t26 A T 11: 49,039,188 (GRCm39) M35L probably benign Het
Or5p76 T A 7: 108,122,384 (GRCm39) I258F possibly damaging Het
Or7e175 A T 9: 20,049,363 (GRCm39) K317M probably benign Het
Pcdha7 T A 18: 37,108,501 (GRCm39) S509T probably damaging Het
Pdgfrb T C 18: 61,198,207 (GRCm39) V296A probably benign Het
Pdzd2 A T 15: 12,592,494 (GRCm39) L50* probably null Het
Plcl2 G T 17: 50,914,347 (GRCm39) R452L possibly damaging Het
Poldip3 A T 15: 83,022,392 (GRCm39) F131I possibly damaging Het
Pwwp3a T C 10: 80,076,209 (GRCm39) probably benign Het
Rffl G A 11: 82,703,543 (GRCm39) R127* probably null Het
Sec24d T A 3: 123,152,550 (GRCm39) V854E probably damaging Het
Sgo2a T A 1: 58,056,918 (GRCm39) L1034* probably null Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm39) N95K possibly damaging Het
Spag17 C T 3: 99,992,657 (GRCm39) Q1718* probably null Het
Spdl1 C T 11: 34,714,267 (GRCm39) A141T probably benign Het
Stxbp3-ps A T 19: 9,535,714 (GRCm39) noncoding transcript Het
Supv3l1 G T 10: 62,266,394 (GRCm39) A594D probably damaging Het
Tcaf3 A G 6: 42,573,867 (GRCm39) V115A probably benign Het
Tmem131 T C 1: 36,866,255 (GRCm39) N483S possibly damaging Het
Tonsl A T 15: 76,522,301 (GRCm39) C231S probably damaging Het
Trav9n-4 T C 14: 53,532,305 (GRCm39) F53S possibly damaging Het
Trgv7 G T 13: 19,362,558 (GRCm39) L82F probably damaging Het
Trim45 T G 3: 100,835,388 (GRCm39) V457G probably damaging Het
Trpm1 T A 7: 63,885,579 (GRCm39) I865N probably damaging Het
Trpm3 C A 19: 22,676,130 (GRCm39) L99I probably benign Het
Twist1 T A 12: 34,008,440 (GRCm39) L155Q probably damaging Het
Vac14 A G 8: 111,437,018 (GRCm39) E577G possibly damaging Het
Vmn1r184 T C 7: 25,966,881 (GRCm39) V209A probably benign Het
Xdh C T 17: 74,198,288 (GRCm39) G1200R probably damaging Het
Zbbx C T 3: 74,990,990 (GRCm39) D290N possibly damaging Het
Zbtb40 T C 4: 136,725,263 (GRCm39) T585A probably benign Het
Zc3h4 T A 7: 16,156,155 (GRCm39) D262E unknown Het
Zfp777 G T 6: 48,014,601 (GRCm39) D368E 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
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'- CACATAGCCCATCTCCAGTG -3'
(R):5'- AATGCCAAGATTCCTCTGTGGG -3'

Sequencing Primer
(F):5'- ATCTGGCCTTCCATGTGCAGG -3'
(R):5'- CCTCTGTGGGGGTCGATAAGC -3'
Posted On 2016-06-06