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: 0.152) question?
Stock # R5030 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80611080-80695356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80613247 bp (GRCm38)
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: 26,479,785 (GRCm38) noncoding transcript Het
4932438A13Rik A G 3: 36,943,399 (GRCm38) probably benign Het
9330182L06Rik T A 5: 9,428,502 (GRCm38) N455K probably damaging Het
Abca15 A T 7: 120,340,001 (GRCm38) E206V probably damaging Het
Acy1 A G 9: 106,433,397 (GRCm38) F343L probably benign Het
Adam22 T C 5: 8,179,645 (GRCm38) probably benign Het
Adgrv1 A T 13: 81,459,829 (GRCm38) D4041E probably benign Het
Akr1c14 T C 13: 4,079,102 (GRCm38) S166P probably damaging Het
Alms1 T A 6: 85,627,964 (GRCm38) C2199S probably damaging Het
Atm A T 9: 53,520,109 (GRCm38) Y316* probably null Het
Atp1a1 T C 3: 101,579,817 (GRCm38) D892G probably benign Het
Auts2 A G 5: 131,443,498 (GRCm38) V581A probably benign Het
Boll T A 1: 55,355,735 (GRCm38) N57I probably damaging Het
C1s2 A C 6: 124,635,588 (GRCm38) V36G possibly damaging Het
Capza1 T C 3: 104,840,838 (GRCm38) Y70C probably damaging Het
Carnmt1 T C 19: 18,691,586 (GRCm38) S292P possibly damaging Het
Cyp2g1 T G 7: 26,820,801 (GRCm38) V486G probably benign Het
Dennd6b T A 15: 89,196,251 (GRCm38) T49S possibly damaging Het
Dhx58 A T 11: 100,696,137 (GRCm38) I610N probably damaging Het
Fam170a T A 18: 50,281,954 (GRCm38) N222K probably benign Het
Fbn1 A G 2: 125,412,704 (GRCm38) V213A possibly damaging Het
Fsip2 A T 2: 82,988,492 (GRCm38) K4856N possibly damaging Het
Galnt17 A G 5: 130,876,513 (GRCm38) V571A probably damaging Het
Gm6124 A G 7: 39,223,030 (GRCm38) noncoding transcript Het
Gm884 G A 11: 103,534,849 (GRCm38) P1419S unknown Het
Gm8973 A G 15: 99,006,255 (GRCm38) noncoding transcript Het
Gpd2 A G 2: 57,304,405 (GRCm38) T107A probably damaging Het
Hsd17b11 G A 5: 104,003,292 (GRCm38) A192V probably damaging Het
Igkv6-25 C T 6: 70,215,442 (GRCm38) Q4* probably null Het
Kalrn A G 16: 33,975,742 (GRCm38) I1221T probably benign Het
Klhl9 G T 4: 88,720,534 (GRCm38) T490K possibly damaging Het
Lnpep A G 17: 17,579,309 (GRCm38) V28A probably damaging Het
Man2c1 A G 9: 57,140,639 (GRCm38) H843R probably benign Het
Map1b T C 13: 99,434,174 (GRCm38) K680E unknown Het
Metap2 A T 10: 93,879,677 (GRCm38) probably null Het
Mfsd2a A T 4: 122,950,156 (GRCm38) I340N possibly damaging Het
Mgll T C 6: 88,818,665 (GRCm38) probably null Het
Mum1 T C 10: 80,240,375 (GRCm38) probably benign Het
Myh9 A G 15: 77,807,798 (GRCm38) probably benign Het
Ncapd3 A T 9: 27,071,766 (GRCm38) I937F probably damaging Het
Neb T C 2: 52,334,492 (GRCm38) probably benign Het
Nova1 A G 12: 46,700,247 (GRCm38) S416P probably damaging Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 (GRCm38) probably null Het
Olfr1395 A T 11: 49,148,361 (GRCm38) M35L probably benign Het
Olfr502 T A 7: 108,523,177 (GRCm38) I258F possibly damaging Het
Olfr869 A T 9: 20,138,067 (GRCm38) K317M probably benign Het
Oosp3 T C 19: 11,700,944 (GRCm38) W95R probably benign Het
Pcdha7 T A 18: 36,975,448 (GRCm38) S509T probably damaging Het
Pdgfrb T C 18: 61,065,135 (GRCm38) V296A probably benign Het
Pdzd2 A T 15: 12,592,408 (GRCm38) L50* probably null Het
Plcl2 G T 17: 50,607,319 (GRCm38) R452L possibly damaging Het
Poldip3 A T 15: 83,138,191 (GRCm38) F131I possibly damaging Het
Rffl G A 11: 82,812,717 (GRCm38) R127* probably null Het
Sec24d T A 3: 123,358,901 (GRCm38) V854E probably damaging Het
Sgo2a T A 1: 58,017,759 (GRCm38) L1034* probably null Het
Slc39a4 C T 15: 76,614,083 (GRCm38) D385N probably damaging Het
Spaca1 A T 4: 34,039,247 (GRCm38) N95K possibly damaging Het
Spag17 C T 3: 100,085,341 (GRCm38) Q1718* probably null Het
Spdl1 C T 11: 34,823,440 (GRCm38) A141T probably benign Het
Stxbp3-ps A T 19: 9,558,350 (GRCm38) noncoding transcript Het
Supv3l1 G T 10: 62,430,615 (GRCm38) A594D probably damaging Het
Tcaf3 A G 6: 42,596,933 (GRCm38) V115A probably benign Het
Tcrg-V7 G T 13: 19,178,388 (GRCm38) L82F probably damaging Het
Tmem131 T C 1: 36,827,174 (GRCm38) N483S possibly damaging Het
Tmem2 T G 19: 21,842,105 (GRCm38) F1087V probably benign Het
Tonsl A T 15: 76,638,101 (GRCm38) C231S probably damaging Het
Trav9n-4 T C 14: 53,294,848 (GRCm38) F53S possibly damaging Het
Trim45 T G 3: 100,928,072 (GRCm38) V457G probably damaging Het
Trpm1 T A 7: 64,235,831 (GRCm38) I865N probably damaging Het
Trpm3 C A 19: 22,698,766 (GRCm38) L99I probably benign Het
Twist1 T A 12: 33,958,441 (GRCm38) L155Q probably damaging Het
Vac14 A G 8: 110,710,386 (GRCm38) E577G possibly damaging Het
Vmn1r184 T C 7: 26,267,456 (GRCm38) V209A probably benign Het
Xdh C T 17: 73,891,293 (GRCm38) G1200R probably damaging Het
Zbbx C T 3: 75,083,683 (GRCm38) D290N possibly damaging Het
Zbtb40 T C 4: 136,997,952 (GRCm38) T585A probably benign Het
Zc3h4 T A 7: 16,422,230 (GRCm38) D262E unknown Het
Zfp777 G T 6: 48,037,667 (GRCm38) D368E probably damaging Het
Other mutations in Frem3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Frem3 APN 8 80,668,810 (GRCm38) missense possibly damaging 0.75
IGL01019:Frem3 APN 8 80,615,134 (GRCm38) missense probably benign 0.02
IGL01470:Frem3 APN 8 80,614,315 (GRCm38) missense probably damaging 1.00
IGL01609:Frem3 APN 8 80,612,704 (GRCm38) missense probably benign 0.00
IGL01622:Frem3 APN 8 80,613,915 (GRCm38) missense probably benign 0.01
IGL01623:Frem3 APN 8 80,613,915 (GRCm38) missense probably benign 0.01
IGL01751:Frem3 APN 8 80,615,743 (GRCm38) missense probably benign 0.33
IGL02037:Frem3 APN 8 80,611,489 (GRCm38) missense probably benign 0.31
IGL02039:Frem3 APN 8 80,612,971 (GRCm38) missense probably damaging 1.00
IGL02084:Frem3 APN 8 80,612,443 (GRCm38) missense possibly damaging 0.95
IGL02124:Frem3 APN 8 80,613,094 (GRCm38) missense probably damaging 0.99
IGL02140:Frem3 APN 8 80,614,107 (GRCm38) missense possibly damaging 0.84
IGL02836:Frem3 APN 8 80,614,381 (GRCm38) missense probably benign
IGL03090:Frem3 APN 8 80,618,229 (GRCm38) missense probably benign 0.01
IGL03102:Frem3 APN 8 80,613,032 (GRCm38) missense possibly damaging 0.92
IGL03116:Frem3 APN 8 80,612,806 (GRCm38) missense possibly damaging 0.84
IGL03165:Frem3 APN 8 80,612,529 (GRCm38) missense probably benign 0.26
IGL03224:Frem3 APN 8 80,613,463 (GRCm38) missense probably damaging 1.00
IGL03401:Frem3 APN 8 80,614,541 (GRCm38) missense probably damaging 1.00
IGL03403:Frem3 APN 8 80,611,090 (GRCm38) missense probably benign 0.04
FR4340:Frem3 UTSW 8 80,615,241 (GRCm38) small insertion probably benign
FR4976:Frem3 UTSW 8 80,615,241 (GRCm38) small insertion probably benign
IGL02991:Frem3 UTSW 8 80,668,882 (GRCm38) missense probably damaging 1.00
IGL03052:Frem3 UTSW 8 80,614,530 (GRCm38) missense probably damaging 1.00
R0089:Frem3 UTSW 8 80,615,878 (GRCm38) missense possibly damaging 0.94
R0647:Frem3 UTSW 8 80,615,185 (GRCm38) missense probably damaging 1.00
R0690:Frem3 UTSW 8 80,613,952 (GRCm38) missense possibly damaging 0.84
R0766:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R0834:Frem3 UTSW 8 80,687,008 (GRCm38) missense probably damaging 1.00
R0909:Frem3 UTSW 8 80,663,406 (GRCm38) missense probably benign 0.45
R1033:Frem3 UTSW 8 80,695,157 (GRCm38) missense probably benign 0.00
R1144:Frem3 UTSW 8 80,611,884 (GRCm38) missense probably benign 0.01
R1312:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R1330:Frem3 UTSW 8 80,668,839 (GRCm38) missense probably damaging 0.99
R1355:Frem3 UTSW 8 80,690,702 (GRCm38) missense probably damaging 1.00
R1390:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.99
R1413:Frem3 UTSW 8 80,668,801 (GRCm38) missense probably benign
R1470:Frem3 UTSW 8 80,611,191 (GRCm38) missense probably benign 0.05
R1470:Frem3 UTSW 8 80,611,191 (GRCm38) missense probably benign 0.05
R1503:Frem3 UTSW 8 80,687,018 (GRCm38) missense probably damaging 0.99
R1538:Frem3 UTSW 8 80,613,135 (GRCm38) missense probably benign 0.00
R1538:Frem3 UTSW 8 80,612,710 (GRCm38) missense probably damaging 1.00
R1612:Frem3 UTSW 8 80,614,861 (GRCm38) missense probably damaging 1.00
R1793:Frem3 UTSW 8 80,613,112 (GRCm38) missense probably benign 0.03
R1872:Frem3 UTSW 8 80,612,576 (GRCm38) missense probably damaging 1.00
R1879:Frem3 UTSW 8 80,611,938 (GRCm38) nonsense probably null
R1886:Frem3 UTSW 8 80,613,885 (GRCm38) missense probably benign 0.00
R1933:Frem3 UTSW 8 80,612,890 (GRCm38) missense probably benign 0.00
R2027:Frem3 UTSW 8 80,695,337 (GRCm38) missense possibly damaging 0.75
R2040:Frem3 UTSW 8 80,615,826 (GRCm38) missense possibly damaging 0.92
R2050:Frem3 UTSW 8 80,614,891 (GRCm38) missense probably damaging 1.00
R2079:Frem3 UTSW 8 80,615,103 (GRCm38) missense probably benign 0.03
R2099:Frem3 UTSW 8 80,615,859 (GRCm38) missense probably benign 0.06
R2120:Frem3 UTSW 8 80,615,457 (GRCm38) missense probably benign 0.20
R2842:Frem3 UTSW 8 80,669,349 (GRCm38) splice site probably null
R2845:Frem3 UTSW 8 80,613,220 (GRCm38) missense probably damaging 1.00
R3015:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.99
R3442:Frem3 UTSW 8 80,613,040 (GRCm38) missense probably damaging 1.00
R3724:Frem3 UTSW 8 80,615,271 (GRCm38) missense probably benign 0.06
R3730:Frem3 UTSW 8 80,615,916 (GRCm38) missense probably damaging 0.99
R3939:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R3940:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R3941:Frem3 UTSW 8 80,615,020 (GRCm38) missense possibly damaging 0.84
R4089:Frem3 UTSW 8 80,615,173 (GRCm38) missense probably damaging 1.00
R4282:Frem3 UTSW 8 80,614,141 (GRCm38) missense probably benign 0.00
R4437:Frem3 UTSW 8 80,612,607 (GRCm38) missense probably benign 0.30
R4480:Frem3 UTSW 8 80,611,357 (GRCm38) missense probably benign 0.10
R4575:Frem3 UTSW 8 80,616,075 (GRCm38) missense probably benign 0.17
R4583:Frem3 UTSW 8 80,613,514 (GRCm38) missense probably benign 0.03
R4620:Frem3 UTSW 8 80,668,957 (GRCm38) missense possibly damaging 0.82
R4621:Frem3 UTSW 8 80,669,191 (GRCm38) splice site probably null
R4644:Frem3 UTSW 8 80,613,727 (GRCm38) missense probably benign 0.33
R4667:Frem3 UTSW 8 80,663,420 (GRCm38) missense probably damaging 0.97
R4748:Frem3 UTSW 8 80,611,459 (GRCm38) missense probably damaging 1.00
R4823:Frem3 UTSW 8 80,613,958 (GRCm38) missense probably benign 0.25
R4836:Frem3 UTSW 8 80,663,397 (GRCm38) missense probably damaging 0.99
R4867:Frem3 UTSW 8 80,613,283 (GRCm38) missense probably damaging 1.00
R4921:Frem3 UTSW 8 80,613,136 (GRCm38) missense possibly damaging 0.83
R5035:Frem3 UTSW 8 80,615,914 (GRCm38) missense probably damaging 0.97
R5172:Frem3 UTSW 8 80,612,566 (GRCm38) missense probably benign 0.44
R5289:Frem3 UTSW 8 80,612,319 (GRCm38) missense probably benign 0.00
R5492:Frem3 UTSW 8 80,612,677 (GRCm38) missense probably damaging 1.00
R5655:Frem3 UTSW 8 80,612,694 (GRCm38) missense probably benign 0.00
R5685:Frem3 UTSW 8 80,695,303 (GRCm38) missense probably damaging 1.00
R5723:Frem3 UTSW 8 80,613,397 (GRCm38) missense probably benign 0.02
R5743:Frem3 UTSW 8 80,615,778 (GRCm38) missense probably damaging 0.98
R5889:Frem3 UTSW 8 80,614,288 (GRCm38) missense probably damaging 1.00
R6048:Frem3 UTSW 8 80,613,433 (GRCm38) missense probably benign 0.03
R6057:Frem3 UTSW 8 80,615,587 (GRCm38) missense probably damaging 0.99
R6137:Frem3 UTSW 8 80,615,047 (GRCm38) missense probably benign
R6264:Frem3 UTSW 8 80,615,203 (GRCm38) missense probably damaging 1.00
R6339:Frem3 UTSW 8 80,613,015 (GRCm38) missense possibly damaging 0.84
R6418:Frem3 UTSW 8 80,611,152 (GRCm38) missense probably benign 0.08
R6680:Frem3 UTSW 8 80,669,320 (GRCm38) missense probably damaging 1.00
R6773:Frem3 UTSW 8 80,611,815 (GRCm38) missense probably damaging 1.00
R6838:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R6928:Frem3 UTSW 8 80,611,282 (GRCm38) missense possibly damaging 0.48
R6939:Frem3 UTSW 8 80,615,145 (GRCm38) missense probably benign 0.23
R6995:Frem3 UTSW 8 80,612,579 (GRCm38) missense probably damaging 0.98
R7112:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R7155:Frem3 UTSW 8 80,616,039 (GRCm38) missense probably benign 0.01
R7235:Frem3 UTSW 8 80,690,725 (GRCm38) missense probably benign 0.00
R7282:Frem3 UTSW 8 80,612,031 (GRCm38) missense probably damaging 1.00
R7403:Frem3 UTSW 8 80,616,145 (GRCm38) missense probably damaging 1.00
R7422:Frem3 UTSW 8 80,615,763 (GRCm38) missense probably benign 0.00
R7485:Frem3 UTSW 8 80,613,336 (GRCm38) missense probably damaging 1.00
R7516:Frem3 UTSW 8 80,612,083 (GRCm38) missense probably damaging 0.99
R7858:Frem3 UTSW 8 80,611,721 (GRCm38) nonsense probably null
R7976:Frem3 UTSW 8 80,611,602 (GRCm38) nonsense probably null
R8171:Frem3 UTSW 8 80,615,240 (GRCm38) missense probably damaging 1.00
R8185:Frem3 UTSW 8 80,612,304 (GRCm38) nonsense probably null
R8306:Frem3 UTSW 8 80,612,211 (GRCm38) missense possibly damaging 0.95
R8478:Frem3 UTSW 8 80,611,558 (GRCm38) missense probably damaging 1.00
R8518:Frem3 UTSW 8 80,612,595 (GRCm38) missense probably damaging 1.00
R8794:Frem3 UTSW 8 80,616,222 (GRCm38) missense probably benign 0.02
R8794:Frem3 UTSW 8 80,612,278 (GRCm38) missense probably damaging 1.00
R8806:Frem3 UTSW 8 80,663,435 (GRCm38) missense probably benign 0.30
R8833:Frem3 UTSW 8 80,612,772 (GRCm38) missense probably benign 0.29
R8879:Frem3 UTSW 8 80,613,148 (GRCm38) missense probably damaging 0.98
R8897:Frem3 UTSW 8 80,612,790 (GRCm38) missense probably damaging 1.00
R8983:Frem3 UTSW 8 80,669,246 (GRCm38) missense probably damaging 1.00
R9207:Frem3 UTSW 8 80,613,442 (GRCm38) missense possibly damaging 0.73
R9277:Frem3 UTSW 8 80,690,773 (GRCm38) missense probably damaging 0.96
R9536:Frem3 UTSW 8 80,615,419 (GRCm38) missense probably benign 0.00
R9596:Frem3 UTSW 8 80,615,322 (GRCm38) missense probably benign
R9649:Frem3 UTSW 8 80,614,516 (GRCm38) missense probably damaging 1.00
R9671:Frem3 UTSW 8 80,612,505 (GRCm38) missense probably benign 0.00
R9723:Frem3 UTSW 8 80,614,723 (GRCm38) missense probably benign
R9790:Frem3 UTSW 8 80,613,261 (GRCm38) missense probably benign 0.01
R9791:Frem3 UTSW 8 80,613,261 (GRCm38) missense probably benign 0.01
RF030:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
RF034:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
RF042:Frem3 UTSW 8 80,615,238 (GRCm38) small insertion probably benign
X0024:Frem3 UTSW 8 80,613,081 (GRCm38) missense possibly damaging 0.76
X0027:Frem3 UTSW 8 80,612,388 (GRCm38) nonsense probably null
Z1088:Frem3 UTSW 8 80,615,426 (GRCm38) missense probably benign 0.04
Z1176:Frem3 UTSW 8 80,615,431 (GRCm38) missense probably benign 0.03
Z1176:Frem3 UTSW 8 80,611,503 (GRCm38) missense probably damaging 0.99
Z1177:Frem3 UTSW 8 80,616,129 (GRCm38) 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