Incidental Mutation 'R3888:Frem1'
ID 312859
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 040800-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 82816157-82970576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82831844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1991 (R1991G)
Ref Sequence ENSEMBL: ENSMUSP00000071627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]
AlphaFold Q684R7
Predicted Effect probably benign
Transcript: ENSMUST00000071708
AA Change: R1991G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: R1991G

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
AA Change: R1972G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: R1972G

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 noncoding transcript
Transcript: ENSMUST00000133610
Predicted Effect probably benign
Transcript: ENSMUST00000170248
AA Change: R1973G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: R1973G

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
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
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Acbd6 A G 1: 155,500,643 (GRCm39) D201G probably damaging Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ano3 T A 2: 110,715,345 (GRCm39) K31I probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cmya5 T G 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Gimap7 G A 6: 48,700,779 (GRCm39) E122K probably benign Het
Hps3 A G 3: 20,057,387 (GRCm39) probably null Het
Kctd2 A T 11: 115,318,345 (GRCm39) K209N probably damaging Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Muc5ac T C 7: 141,344,961 (GRCm39) V144A possibly damaging Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Ntf3 T C 6: 126,079,405 (GRCm39) M21V probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Or5b97 A T 19: 12,878,497 (GRCm39) C216S probably benign Het
Or6c1 A T 10: 129,518,088 (GRCm39) D173E probably benign Het
Or6c1 G A 10: 129,518,087 (GRCm39) H174Y possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Slc12a6 T A 2: 112,097,375 (GRCm39) L70Q possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Smim17 G T 7: 6,432,279 (GRCm39) G74C probably damaging Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Suv39h2 G A 2: 3,465,845 (GRCm39) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,345,166 (GRCm39) Q191* probably null Het
Trak1 G T 9: 121,271,863 (GRCm39) probably null Het
Ttn A G 2: 76,540,618 (GRCm39) S25796P probably damaging Het
Ugp2 T C 11: 21,303,366 (GRCm39) R80G probably benign Het
Utp15 C T 13: 98,395,674 (GRCm39) V103I probably benign Het
Wdr3 A T 3: 100,061,222 (GRCm39) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm39) D86E 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
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'- AGCAGTTTCCTTCCTTGGG -3'
(R):5'- GCCTTGATGCTGTCTTTTAAATGC -3'

Sequencing Primer
(F):5'- ACATCTGTGTCAAGTAAACTGTCCC -3'
(R):5'- CCTCAAGTACCATGGTATAG -3'
Posted On 2015-04-30