Incidental Mutation 'R6598:Frem1'
ID 525027
Institutional Source Beutler Lab
Gene Symbol Frem1
Ensembl Gene ENSMUSG00000059049
Gene Name Fras1 related extracellular matrix protein 1
Synonyms eyes2, crf11, eye, QBRICK, heb
MMRRC Submission 044722-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R6598 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 82816157-82970576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82932065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 212 (F212Y)
Ref Sequence ENSEMBL: ENSMUSP00000102849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]
AlphaFold Q684R7
Predicted Effect probably damaging
Transcript: ENSMUST00000071708
AA Change: F212Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: F212Y

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Cadherin_3 364 508 1.7e-37 PFAM
Pfam:Cadherin_3 509 623 3.7e-18 PFAM
Pfam:Cadherin_3 592 709 8.4e-16 PFAM
Pfam:Cadherin_3 746 894 4.8e-26 PFAM
Pfam:Cadherin_3 863 1009 2.8e-30 PFAM
Pfam:Cadherin_3 1024 1115 6.4e-13 PFAM
Pfam:Cadherin_3 1119 1252 1.4e-17 PFAM
Pfam:Cadherin_3 1243 1393 8.2e-35 PFAM
Pfam:Cadherin_3 1378 1506 2e-22 PFAM
Pfam:Cadherin_3 1506 1616 1e-29 PFAM
Pfam:Cadherin_3 1617 1744 1.5e-14 PFAM
Pfam:Calx-beta 1749 1848 2.6e-10 PFAM
low complexity region 1894 1910 N/A INTRINSIC
CLECT 2065 2188 2.25e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107230
AA Change: F212Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: F212Y

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
internal_repeat_1 296 967 9.01e-39 PROSPERO
internal_repeat_1 1026 1705 9.01e-39 PROSPERO
Pfam:Calx-beta 1730 1829 6.7e-10 PFAM
low complexity region 1875 1891 N/A INTRINSIC
CLECT 2046 2169 2.25e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131102
Predicted Effect possibly damaging
Transcript: ENSMUST00000170248
AA Change: F212Y

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: F212Y

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Cadherin_3 365 509 1.3e-37 PFAM
Pfam:Cadherin_3 510 623 4.5e-18 PFAM
Pfam:Cadherin_3 593 711 6.1e-16 PFAM
Pfam:Cadherin_3 728 876 2.7e-27 PFAM
Pfam:Cadherin_3 845 991 2.1e-30 PFAM
Pfam:Cadherin_3 1006 1097 4.8e-13 PFAM
Pfam:Cadherin_3 1101 1234 1e-17 PFAM
Pfam:Cadherin_3 1225 1375 6.1e-35 PFAM
Pfam:Cadherin_3 1360 1488 1.5e-22 PFAM
Pfam:Cadherin_3 1488 1598 7.5e-30 PFAM
Pfam:Cadherin_3 1599 1726 1.1e-14 PFAM
Pfam:Calx-beta 1731 1830 6.4e-10 PFAM
low complexity region 1876 1892 N/A INTRINSIC
CLECT 2047 2170 2.25e-27 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,007,502 (GRCm39) S943T probably benign Het
Adgrv1 T G 13: 81,654,298 (GRCm39) E2911A probably damaging Het
Ankrd28 A G 14: 31,430,896 (GRCm39) F819S probably damaging Het
Cald1 G A 6: 34,723,575 (GRCm39) probably null Het
Clca3a2 G T 3: 144,792,246 (GRCm39) Y338* probably null Het
Cmya5 C T 13: 93,226,316 (GRCm39) G2924D probably benign Het
Col6a4 A T 9: 105,877,611 (GRCm39) L2122Q probably damaging Het
Dapk1 T C 13: 60,909,161 (GRCm39) F1258S probably benign Het
Ddx39a T C 8: 84,449,556 (GRCm39) V387A probably benign Het
Dscam A G 16: 96,620,984 (GRCm39) C575R probably damaging Het
Dyrk4 C T 6: 126,853,289 (GRCm39) V632M probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermp1 A G 19: 29,609,902 (GRCm39) S111P possibly damaging Het
Fbxo40 A T 16: 36,789,376 (GRCm39) L578Q probably damaging Het
Golm2 A T 2: 121,763,966 (GRCm39) E247D probably damaging Het
Golm2 G A 2: 121,763,967 (GRCm39) E383K probably damaging Het
Icos T G 1: 61,033,856 (GRCm39) I162S possibly damaging Het
Kcnj8 G T 6: 142,515,959 (GRCm39) N49K probably damaging Het
Ldhb A T 6: 142,436,326 (GRCm39) M281K possibly damaging Het
Med17 T C 9: 15,182,996 (GRCm39) K350E probably benign Het
Mpo A T 11: 87,690,798 (GRCm39) N412I probably benign Het
Mrps24 A T 11: 5,654,713 (GRCm39) D80E probably benign Het
Myo5c A G 9: 75,153,516 (GRCm39) D134G probably damaging Het
Ndufs1 T C 1: 63,204,109 (GRCm39) Q140R probably null Het
Nsd1 T C 13: 55,441,515 (GRCm39) V1662A possibly damaging Het
Or10ag53 C T 2: 87,083,100 (GRCm39) T273I probably damaging Het
Or5p51 G A 7: 107,444,470 (GRCm39) L157F probably benign Het
Or6c88 C A 10: 129,407,238 (GRCm39) T238N probably damaging Het
Polq G A 16: 36,881,993 (GRCm39) A1386T probably benign Het
Ppil1 C A 17: 29,480,852 (GRCm39) V24F probably benign Het
Prim1 G T 10: 127,856,049 (GRCm39) V165L possibly damaging Het
Slc12a2 G A 18: 58,031,145 (GRCm39) V317I probably benign Het
Tbpl1 A G 10: 22,583,748 (GRCm39) V103A probably damaging Het
Tmprss11c C T 5: 86,437,092 (GRCm39) E10K probably benign Het
Unc80 T G 1: 66,507,699 (GRCm39) probably null Het
Uqcrc1 G T 9: 108,776,690 (GRCm39) V30F possibly damaging Het
Vmn1r88 T C 7: 12,912,150 (GRCm39) Y169H probably damaging Het
Zan A T 5: 137,404,626 (GRCm39) probably benign Het
Zc3h13 A G 14: 75,569,623 (GRCm39) D1490G probably damaging Het
Zer1 T A 2: 30,003,286 (GRCm39) S44C probably damaging Het
Zfp106 T A 2: 120,365,541 (GRCm39) K289* probably null Het
Zfp618 A G 4: 63,007,636 (GRCm39) Y155C probably damaging Het
Zfp979 A G 4: 147,698,223 (GRCm39) L162P probably damaging Het
Other mutations in Frem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Frem1 APN 4 82,877,626 (GRCm39) missense possibly damaging 0.46
IGL01069:Frem1 APN 4 82,932,104 (GRCm39) missense probably benign 0.00
IGL01106:Frem1 APN 4 82,840,494 (GRCm39) missense probably benign 0.00
IGL01398:Frem1 APN 4 82,868,599 (GRCm39) missense possibly damaging 0.64
IGL01617:Frem1 APN 4 82,854,376 (GRCm39) missense probably benign 0.02
IGL01647:Frem1 APN 4 82,868,593 (GRCm39) missense possibly damaging 0.60
IGL01690:Frem1 APN 4 82,877,533 (GRCm39) splice site probably benign
IGL02006:Frem1 APN 4 82,911,037 (GRCm39) critical splice donor site probably null
IGL02069:Frem1 APN 4 82,821,788 (GRCm39) missense probably damaging 1.00
IGL02131:Frem1 APN 4 82,843,091 (GRCm39) missense probably benign 0.03
IGL02225:Frem1 APN 4 82,858,743 (GRCm39) missense probably damaging 1.00
IGL02439:Frem1 APN 4 82,874,582 (GRCm39) missense probably benign 0.00
IGL02567:Frem1 APN 4 82,918,292 (GRCm39) missense probably damaging 1.00
IGL02647:Frem1 APN 4 82,919,991 (GRCm39) missense probably damaging 1.00
IGL02653:Frem1 APN 4 82,877,571 (GRCm39) missense probably benign 0.22
IGL02831:Frem1 APN 4 82,874,395 (GRCm39) missense probably benign 0.31
IGL02997:Frem1 APN 4 82,853,205 (GRCm39) missense probably damaging 1.00
IGL03005:Frem1 APN 4 82,912,371 (GRCm39) missense probably damaging 1.00
IGL03036:Frem1 APN 4 82,877,576 (GRCm39) missense possibly damaging 0.55
IGL03193:Frem1 APN 4 82,912,263 (GRCm39) splice site probably benign
IGL03218:Frem1 APN 4 82,832,883 (GRCm39) missense probably benign 0.00
IGL03235:Frem1 APN 4 82,938,992 (GRCm39) missense possibly damaging 0.87
IGL03243:Frem1 APN 4 82,932,206 (GRCm39) missense probably damaging 1.00
bat UTSW 4 82,983,060 (GRCm38) intron probably benign
blister UTSW 4 82,939,007 (GRCm39) missense probably benign 0.28
boy UTSW 4 82,874,492 (GRCm39) missense probably benign 0.16
Bubblie UTSW 4 82,888,870 (GRCm39) critical splice donor site probably null
magicbear UTSW 4 82,920,057 (GRCm39) missense probably damaging 1.00
major UTSW 4 82,907,426 (GRCm39) missense probably damaging 1.00
R6324_Frem1_643 UTSW 4 82,901,574 (GRCm39) missense probably benign 0.00
PIT4131001:Frem1 UTSW 4 82,924,045 (GRCm39) missense probably damaging 0.99
PIT4466001:Frem1 UTSW 4 82,890,374 (GRCm39) missense probably benign 0.01
PIT4472001:Frem1 UTSW 4 82,890,374 (GRCm39) missense probably benign 0.01
PIT4515001:Frem1 UTSW 4 82,818,663 (GRCm39) missense probably damaging 0.98
PIT4531001:Frem1 UTSW 4 82,868,517 (GRCm39) missense probably benign 0.12
R0010:Frem1 UTSW 4 82,918,335 (GRCm39) missense probably benign 0.41
R0010:Frem1 UTSW 4 82,918,335 (GRCm39) missense probably benign 0.41
R0115:Frem1 UTSW 4 82,854,406 (GRCm39) missense possibly damaging 0.94
R0125:Frem1 UTSW 4 82,930,188 (GRCm39) missense probably damaging 1.00
R0280:Frem1 UTSW 4 82,887,681 (GRCm39) missense probably damaging 1.00
R0504:Frem1 UTSW 4 82,830,874 (GRCm39) missense probably benign 0.26
R0519:Frem1 UTSW 4 82,888,870 (GRCm39) critical splice donor site probably null
R0631:Frem1 UTSW 4 82,890,402 (GRCm39) missense probably damaging 1.00
R0645:Frem1 UTSW 4 82,907,403 (GRCm39) missense probably damaging 1.00
R0781:Frem1 UTSW 4 82,868,557 (GRCm39) missense probably damaging 0.99
R1110:Frem1 UTSW 4 82,868,557 (GRCm39) missense probably damaging 0.99
R1115:Frem1 UTSW 4 82,939,007 (GRCm39) missense probably benign 0.28
R1130:Frem1 UTSW 4 82,834,865 (GRCm39) splice site probably null
R1173:Frem1 UTSW 4 82,868,589 (GRCm39) missense probably benign 0.16
R1349:Frem1 UTSW 4 82,840,542 (GRCm39) splice site probably benign
R1464:Frem1 UTSW 4 82,930,116 (GRCm39) missense probably damaging 1.00
R1464:Frem1 UTSW 4 82,930,116 (GRCm39) missense probably damaging 1.00
R1658:Frem1 UTSW 4 82,920,045 (GRCm39) missense probably damaging 1.00
R1672:Frem1 UTSW 4 82,917,128 (GRCm39) missense probably benign 0.09
R1831:Frem1 UTSW 4 82,939,074 (GRCm39) missense possibly damaging 0.95
R1851:Frem1 UTSW 4 82,868,737 (GRCm39) missense probably damaging 0.98
R2014:Frem1 UTSW 4 82,924,089 (GRCm39) missense probably damaging 1.00
R2021:Frem1 UTSW 4 82,831,795 (GRCm39) missense probably benign 0.02
R2022:Frem1 UTSW 4 82,831,795 (GRCm39) missense probably benign 0.02
R2023:Frem1 UTSW 4 82,831,795 (GRCm39) missense probably benign 0.02
R2183:Frem1 UTSW 4 82,909,732 (GRCm39) missense probably benign 0.00
R2437:Frem1 UTSW 4 82,918,410 (GRCm39) missense probably damaging 1.00
R2520:Frem1 UTSW 4 82,868,527 (GRCm39) missense probably damaging 0.99
R3195:Frem1 UTSW 4 82,932,351 (GRCm39) missense probably damaging 0.99
R3196:Frem1 UTSW 4 82,932,351 (GRCm39) missense probably damaging 0.99
R3408:Frem1 UTSW 4 82,930,223 (GRCm39) missense probably damaging 1.00
R3411:Frem1 UTSW 4 82,881,416 (GRCm39) missense possibly damaging 0.51
R3742:Frem1 UTSW 4 82,930,104 (GRCm39) missense probably damaging 1.00
R3829:Frem1 UTSW 4 82,917,167 (GRCm39) missense probably damaging 1.00
R3888:Frem1 UTSW 4 82,831,844 (GRCm39) missense probably benign 0.41
R4329:Frem1 UTSW 4 82,904,774 (GRCm39) missense probably benign 0.01
R4364:Frem1 UTSW 4 82,831,488 (GRCm39) missense probably damaging 0.99
R4411:Frem1 UTSW 4 82,881,481 (GRCm39) missense probably damaging 1.00
R4624:Frem1 UTSW 4 82,907,343 (GRCm39) missense probably damaging 1.00
R4687:Frem1 UTSW 4 82,938,868 (GRCm39) missense probably damaging 1.00
R4764:Frem1 UTSW 4 82,907,426 (GRCm39) missense probably damaging 1.00
R4801:Frem1 UTSW 4 82,834,865 (GRCm39) splice site probably benign
R4802:Frem1 UTSW 4 82,834,865 (GRCm39) splice site probably benign
R4854:Frem1 UTSW 4 82,834,995 (GRCm39) missense possibly damaging 0.88
R4872:Frem1 UTSW 4 82,881,387 (GRCm39) missense probably damaging 1.00
R4947:Frem1 UTSW 4 82,884,371 (GRCm39) missense probably damaging 0.99
R5007:Frem1 UTSW 4 82,859,049 (GRCm39) intron probably benign
R5103:Frem1 UTSW 4 82,909,849 (GRCm39) missense probably benign
R5369:Frem1 UTSW 4 82,919,976 (GRCm39) missense possibly damaging 0.61
R5494:Frem1 UTSW 4 82,858,990 (GRCm39) makesense probably null
R5694:Frem1 UTSW 4 82,912,353 (GRCm39) missense probably damaging 1.00
R5780:Frem1 UTSW 4 82,868,652 (GRCm39) missense probably benign 0.12
R5813:Frem1 UTSW 4 82,918,395 (GRCm39) missense probably damaging 1.00
R5843:Frem1 UTSW 4 82,854,289 (GRCm39) missense probably damaging 1.00
R5914:Frem1 UTSW 4 82,920,012 (GRCm39) missense probably damaging 1.00
R5985:Frem1 UTSW 4 82,884,287 (GRCm39) missense probably benign
R6091:Frem1 UTSW 4 82,818,796 (GRCm39) missense probably benign 0.01
R6165:Frem1 UTSW 4 82,874,492 (GRCm39) missense probably benign 0.16
R6324:Frem1 UTSW 4 82,901,574 (GRCm39) missense probably benign 0.00
R6369:Frem1 UTSW 4 82,832,029 (GRCm39) splice site probably null
R6414:Frem1 UTSW 4 82,858,773 (GRCm39) missense probably damaging 0.98
R6421:Frem1 UTSW 4 82,912,365 (GRCm39) missense probably damaging 1.00
R6434:Frem1 UTSW 4 82,884,253 (GRCm39) missense probably benign 0.03
R6453:Frem1 UTSW 4 82,833,062 (GRCm39) nonsense probably null
R6720:Frem1 UTSW 4 82,932,069 (GRCm39) missense probably damaging 0.98
R6862:Frem1 UTSW 4 82,930,251 (GRCm39) nonsense probably null
R6922:Frem1 UTSW 4 82,840,506 (GRCm39) missense probably damaging 1.00
R6931:Frem1 UTSW 4 82,888,914 (GRCm39) missense probably damaging 1.00
R6992:Frem1 UTSW 4 82,858,599 (GRCm39) missense possibly damaging 0.62
R6995:Frem1 UTSW 4 82,904,838 (GRCm39) missense probably damaging 1.00
R7001:Frem1 UTSW 4 82,904,798 (GRCm39) missense probably benign 0.44
R7104:Frem1 UTSW 4 82,858,918 (GRCm39) missense probably benign 0.30
R7146:Frem1 UTSW 4 82,840,532 (GRCm39) missense possibly damaging 0.93
R7174:Frem1 UTSW 4 82,840,493 (GRCm39) missense probably benign 0.00
R7327:Frem1 UTSW 4 82,938,992 (GRCm39) missense possibly damaging 0.87
R7343:Frem1 UTSW 4 82,912,359 (GRCm39) missense probably damaging 0.99
R7368:Frem1 UTSW 4 82,884,381 (GRCm39) missense probably benign 0.19
R7392:Frem1 UTSW 4 82,932,064 (GRCm39) missense probably benign 0.06
R7465:Frem1 UTSW 4 82,833,072 (GRCm39) missense probably benign 0.11
R7499:Frem1 UTSW 4 82,924,007 (GRCm39) missense probably damaging 1.00
R7536:Frem1 UTSW 4 82,874,432 (GRCm39) missense probably damaging 1.00
R7752:Frem1 UTSW 4 82,877,614 (GRCm39) missense probably benign 0.02
R7753:Frem1 UTSW 4 82,832,217 (GRCm39) missense probably benign 0.03
R7790:Frem1 UTSW 4 82,907,401 (GRCm39) missense probably benign 0.02
R7818:Frem1 UTSW 4 82,932,245 (GRCm39) missense probably damaging 1.00
R7877:Frem1 UTSW 4 82,932,049 (GRCm39) critical splice donor site probably null
R7878:Frem1 UTSW 4 82,938,917 (GRCm39) missense probably benign 0.00
R7886:Frem1 UTSW 4 82,934,643 (GRCm39) missense possibly damaging 0.68
R7901:Frem1 UTSW 4 82,877,614 (GRCm39) missense probably benign 0.02
R7976:Frem1 UTSW 4 82,919,946 (GRCm39) missense probably damaging 0.97
R8240:Frem1 UTSW 4 82,874,485 (GRCm39) missense probably benign 0.21
R8305:Frem1 UTSW 4 82,918,226 (GRCm39) missense probably benign 0.06
R8415:Frem1 UTSW 4 82,918,499 (GRCm39) missense probably damaging 1.00
R8751:Frem1 UTSW 4 82,889,015 (GRCm39) missense probably damaging 1.00
R8819:Frem1 UTSW 4 82,821,754 (GRCm39) missense probably damaging 1.00
R8820:Frem1 UTSW 4 82,821,754 (GRCm39) missense probably damaging 1.00
R8829:Frem1 UTSW 4 82,918,431 (GRCm39) missense probably damaging 1.00
R8834:Frem1 UTSW 4 82,922,610 (GRCm39) missense probably damaging 1.00
R8857:Frem1 UTSW 4 82,922,280 (GRCm39) intron probably benign
R8910:Frem1 UTSW 4 82,868,694 (GRCm39) missense probably benign 0.09
R9036:Frem1 UTSW 4 82,831,785 (GRCm39) missense probably benign
R9228:Frem1 UTSW 4 82,920,057 (GRCm39) missense probably damaging 1.00
R9382:Frem1 UTSW 4 82,901,622 (GRCm39) missense possibly damaging 0.79
R9441:Frem1 UTSW 4 82,924,083 (GRCm39) missense probably damaging 1.00
R9492:Frem1 UTSW 4 82,920,057 (GRCm39) missense probably damaging 1.00
R9517:Frem1 UTSW 4 82,901,714 (GRCm39) missense probably damaging 1.00
R9640:Frem1 UTSW 4 82,831,896 (GRCm39) missense probably benign
R9641:Frem1 UTSW 4 82,877,653 (GRCm39) missense probably damaging 1.00
X0013:Frem1 UTSW 4 82,833,045 (GRCm39) missense probably benign 0.38
X0017:Frem1 UTSW 4 82,909,870 (GRCm39) critical splice acceptor site probably null
Z1088:Frem1 UTSW 4 82,890,504 (GRCm39) missense probably damaging 1.00
Z1176:Frem1 UTSW 4 82,918,220 (GRCm39) missense probably damaging 1.00
Z1177:Frem1 UTSW 4 82,918,506 (GRCm39) missense probably benign 0.39
Z1177:Frem1 UTSW 4 82,858,552 (GRCm39) critical splice donor site probably null
Z1177:Frem1 UTSW 4 82,934,701 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGATTCCAAATCCACAGCC -3'
(R):5'- ACTGAATTCTATGGCTTATCGCAAG -3'

Sequencing Primer
(F):5'- CCATGTAGGCCTGGTGATCAAATTC -3'
(R):5'- GCCATTGATAAGAACCTGCTC -3'
Posted On 2018-06-22