Incidental Mutation 'R4621:Frem3'
ID 346154
Institutional Source Beutler Lab
Gene Symbol Frem3
Ensembl Gene ENSMUSG00000042353
Gene Name Fras1 related extracellular matrix protein 3
Synonyms LOC333315
MMRRC Submission 041886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4621 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81337709-81421985 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 81395820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039695] [ENSMUST00000039695]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000039695
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353

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
Predicted Effect probably null
Transcript: ENSMUST00000039695
SMART Domains Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (90/90)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,975,235 (GRCm39) Y142H probably damaging Het
Abra C T 15: 41,732,620 (GRCm39) D149N probably benign Het
Acin1 A T 14: 54,890,900 (GRCm39) probably benign Het
Adap2 T A 11: 80,064,899 (GRCm39) probably null Het
Afdn A G 17: 14,109,082 (GRCm39) E1535G probably damaging Het
Ajm1 G A 2: 25,468,412 (GRCm39) P500S probably damaging Het
Ak9 A G 10: 41,282,887 (GRCm39) N1218D possibly damaging Het
Angptl1 G A 1: 156,672,494 (GRCm39) V107M probably damaging Het
Arhgap26 G A 18: 39,032,894 (GRCm39) probably benign Het
Cage1 A C 13: 38,209,477 (GRCm39) S61A possibly damaging Het
Cdadc1 T C 14: 59,824,004 (GRCm39) T163A probably benign Het
Celsr2 A T 3: 108,302,532 (GRCm39) V2568D possibly damaging Het
Cep44 G A 8: 56,995,951 (GRCm39) T166M probably damaging Het
Cnksr3 T C 10: 7,076,182 (GRCm39) K187E possibly damaging Het
Cyp20a1 A G 1: 60,415,258 (GRCm39) T295A probably benign Het
Dus2 T A 8: 106,757,074 (GRCm39) M88K probably damaging Het
E330034G19Rik A T 14: 24,346,070 (GRCm39) probably benign Het
Ecrg4 G A 1: 43,776,412 (GRCm39) probably null Het
Efna5 T C 17: 62,958,040 (GRCm39) D72G probably benign Het
Epb41l2 T C 10: 25,378,038 (GRCm39) probably null Het
Espn A G 4: 152,215,709 (GRCm39) S408P probably damaging Het
Evi5l T C 8: 4,252,909 (GRCm39) probably benign Het
F830016B08Rik G A 18: 60,433,939 (GRCm39) V341I probably benign Het
Flii A G 11: 60,606,937 (GRCm39) L1013P possibly damaging Het
Fndc10 G A 4: 155,779,264 (GRCm39) V103M probably damaging Het
Gltp C T 5: 114,812,188 (GRCm39) R106Q probably damaging Het
Gtf3c3 A G 1: 54,458,575 (GRCm39) Y449H probably damaging Het
H1f9 G A 11: 94,858,986 (GRCm39) V94M probably damaging Het
Hmga1b T C 11: 120,653,866 (GRCm39) V51A probably damaging Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Igkv13-84 T C 6: 68,916,783 (GRCm39) S27P possibly damaging Het
Il15ra A G 2: 11,723,140 (GRCm39) N55D possibly damaging Het
Kctd19 T G 8: 106,123,103 (GRCm39) N104H probably damaging Het
Kif27 T G 13: 58,478,827 (GRCm39) D572A probably benign Het
Larp1b G A 3: 40,918,424 (GRCm39) G22R possibly damaging Het
Lcn2 A T 2: 32,274,655 (GRCm39) probably benign Het
Lmtk2 T A 5: 144,111,752 (GRCm39) I824N probably benign Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mcoln1 A G 8: 3,555,923 (GRCm39) I73V probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mycbp2 G T 14: 103,457,415 (GRCm39) T1627K probably benign Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ndufaf5 A G 2: 140,025,845 (GRCm39) T135A probably benign Het
Neb G A 2: 52,161,051 (GRCm39) Q2207* probably null Het
Nek3 T C 8: 22,647,055 (GRCm39) Y160C probably damaging Het
Or2y6 G C 11: 52,104,706 (GRCm39) L37V probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Osbpl8 A G 10: 111,105,279 (GRCm39) I245V probably benign Het
Pcdh9 T C 14: 94,125,079 (GRCm39) I241V probably benign Het
Pcdhb12 A G 18: 37,570,213 (GRCm39) Q453R probably benign Het
Pcdhb2 A G 18: 37,428,980 (GRCm39) T318A probably benign Het
Prlr T A 15: 10,319,462 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,001,453 (GRCm39) A1181V possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rap1gap2 A G 11: 74,326,525 (GRCm39) probably null Het
Rbm5 A G 9: 107,631,345 (GRCm39) V244A probably damaging Het
Rexo5 T G 7: 119,418,722 (GRCm39) I254R probably benign Het
Robo2 A T 16: 73,782,821 (GRCm39) S316T probably benign Het
Satb2 A T 1: 56,884,778 (GRCm39) V382E probably damaging Het
Scg2 C T 1: 79,414,381 (GRCm39) R114Q probably benign Het
Scube2 T C 7: 109,399,857 (GRCm39) D893G possibly damaging Het
Snrpn T C 7: 59,637,274 (GRCm39) D14G possibly damaging Het
Spag17 A G 3: 100,010,559 (GRCm39) T2018A probably benign Het
Spata9 T G 13: 76,116,001 (GRCm39) F17V possibly damaging Het
Supt6 A G 11: 78,103,572 (GRCm39) Y1378H possibly damaging Het
Thsd7b T C 1: 129,358,652 (GRCm39) S29P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Tmem87a A G 2: 120,227,905 (GRCm39) S81P probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Trbj2-4 T A 6: 41,520,308 (GRCm39) probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Vmn1r82 A G 7: 12,039,263 (GRCm39) T179A possibly damaging Het
Yipf7 T A 5: 69,676,704 (GRCm39) Q145L 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
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
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'- TGCCACACACGATTTAATAAGGG -3'
(R):5'- CCCCATTCTAATAGGCCCATTG -3'

Sequencing Primer
(F):5'- GGGATCCCCTAAACTCAAATCTCCTG -3'
(R):5'- GCCAGGTGCACTCTCCCTAAC -3'
Posted On 2015-09-25