Incidental Mutation 'R4282:Frem3'
ID 322952
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81340770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1021 (V1021A)
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: V1021A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V1021A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G 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
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'- TCTAACTGTCCTTGAAAATGCAGC -3'
(R):5'- TGGGGTCAAGAGGTTCTTCC -3'

Sequencing Primer
(F):5'- CTGTCCTTGAAAATGCAGCTTCTGAG -3'
(R):5'- AAGAGGTTCTTCCCACCTTCATATAC -3'
Posted On 2015-06-20