Incidental Mutation 'R1349:Frem1'
ID 156593
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 039414-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R1349 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 82816157-82970576 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 82840542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]
AlphaFold Q684R7
Predicted Effect probably benign
Transcript: ENSMUST00000071708
SMART Domains Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049

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 benign
Transcript: ENSMUST00000107230
SMART Domains Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049

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: ENSMUST00000130889
Predicted Effect probably benign
Transcript: ENSMUST00000170248
SMART Domains Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.8%
Validation Efficiency 98% (46/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik G A 8: 125,587,992 (GRCm39) T36I possibly damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Ccdc157 A T 11: 4,099,056 (GRCm39) I48N probably benign Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cecr2 G A 6: 120,734,564 (GRCm39) G613E probably damaging Het
Clspn C T 4: 126,457,770 (GRCm39) A98V probably benign Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dbpht2 C CNNNNNNNNNNNNNNNNNN 12: 74,345,836 (GRCm39) noncoding transcript Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dmxl1 A T 18: 50,021,920 (GRCm39) N1612Y probably damaging Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Glipr1 A G 10: 111,829,437 (GRCm39) V108A probably benign Het
Gpatch2l T C 12: 86,307,483 (GRCm39) L287P possibly damaging Het
Hp T G 8: 110,301,938 (GRCm39) K337Q probably benign Het
Htr1a T A 13: 105,581,874 (GRCm39) C371* probably null Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Map4k4 C A 1: 40,060,319 (GRCm39) P1103Q probably damaging Het
Mybph T C 1: 134,121,353 (GRCm39) S38P probably benign Het
Myo1e T G 9: 70,194,351 (GRCm39) probably benign Het
Nefh T TNNNNNNNNNNNNNNNNNN 11: 4,891,010 (GRCm39) probably benign Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Slc6a7 C T 18: 61,133,615 (GRCm39) G527D probably benign Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tgm1 A G 14: 55,948,658 (GRCm39) probably benign Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Togaram1 T A 12: 65,057,919 (GRCm39) M1502K probably damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Vmn2r102 A T 17: 19,880,887 (GRCm39) probably benign Het
Vmn2r12 T C 5: 109,234,452 (GRCm39) M587V probably benign Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Wdr35 A T 12: 9,069,870 (GRCm39) probably benign Het
Wdr73 C A 7: 80,543,000 (GRCm39) V176L 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
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
R6598:Frem1 UTSW 4 82,932,065 (GRCm39) missense probably damaging 0.99
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'- AAACCCGTCTGTTGGGCAAAGG -3'
(R):5'- TAGCACGACTCTCAGTCCCAGAAG -3'

Sequencing Primer
(F):5'- AGGGTGGTAAGGCTCCCTG -3'
(R):5'- ATCCATTGAGGCAGTGCTC -3'
Posted On 2014-02-11