Incidental Mutation 'IGL02427:Frem2'
ID 292949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frem2
Ensembl Gene ENSMUSG00000037016
Gene Name Fras1 related extracellular matrix protein 2
Synonyms my, ne, 6030440P17Rik, b2b1562Clo, 8430406N05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02427
Quality Score
Status
Chromosome 3
Chromosomal Location 53513938-53657355 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53535763 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 2527 (N2527Y)
Ref Sequence ENSEMBL: ENSMUSP00000088670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091137]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000091137
AA Change: N2527Y

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: N2527Y

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
Pfam:Cadherin_3 249 388 4.3e-9 PFAM
Pfam:Cadherin_3 376 532 3e-34 PFAM
Pfam:Cadherin_3 516 665 7.5e-24 PFAM
Pfam:Cadherin_3 632 798 1.6e-21 PFAM
Pfam:Cadherin_3 763 910 1.2e-25 PFAM
Pfam:Cadherin_3 879 1027 5.1e-18 PFAM
Pfam:Cadherin_3 1015 1159 2.2e-20 PFAM
CA 1202 1293 4.8e-1 SMART
Pfam:Cadherin_3 1392 1503 9.8e-24 PFAM
Pfam:Cadherin_3 1504 1612 6.2e-28 PFAM
Pfam:Cadherin_3 1613 1743 5.3e-20 PFAM
Calx_beta 1748 1847 1.5e-5 SMART
Calx_beta 1860 1971 9.47e-12 SMART
Calx_beta 1985 2092 1.65e-11 SMART
Calx_beta 2105 2209 1.99e-5 SMART
Calx_beta 2227 2331 6.9e-14 SMART
transmembrane domain 3103 3125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197519
Coding Region Coverage
Validation Efficiency
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 encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik C T 5: 99,233,970 (GRCm38) G311D probably damaging Het
Ablim1 A T 19: 57,079,880 (GRCm38) probably benign Het
Adgrg2 T C X: 160,491,404 (GRCm38) F863S probably damaging Het
B3galt2 A T 1: 143,646,516 (GRCm38) H130L probably benign Het
Bbs2 G A 8: 94,081,118 (GRCm38) P378S possibly damaging Het
Ccdc154 A T 17: 25,171,757 (GRCm38) probably null Het
Ccdc88c C T 12: 100,921,592 (GRCm38) C1543Y probably damaging Het
Cdcp3 T A 7: 131,244,788 (GRCm38) V647E probably damaging Het
Cfap77 A T 2: 28,955,580 (GRCm38) C258* probably null Het
Cpsf4l T G 11: 113,709,498 (GRCm38) probably benign Het
Csrnp3 G A 2: 65,878,036 (GRCm38) probably benign Het
Cul9 G A 17: 46,502,632 (GRCm38) T2305I possibly damaging Het
Cwf19l1 G A 19: 44,133,023 (GRCm38) Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 (GRCm38) V717L probably benign Het
Cyp1a1 A G 9: 57,700,575 (GRCm38) Y162C probably damaging Het
Dlg5 T C 14: 24,166,207 (GRCm38) D589G probably damaging Het
Dmbt1 G T 7: 131,088,085 (GRCm38) probably null Het
Dtna T C 18: 23,651,538 (GRCm38) Y705H possibly damaging Het
Fancd2 T A 6: 113,549,352 (GRCm38) probably null Het
Gm7694 T C 1: 170,302,544 (GRCm38) D95G probably benign Het
Haus5 T C 7: 30,661,771 (GRCm38) T115A probably benign Het
Kdm3a A T 6: 71,592,200 (GRCm38) probably benign Het
Klra6 T C 6: 130,016,717 (GRCm38) D197G possibly damaging Het
Lap3 T C 5: 45,511,133 (GRCm38) V429A probably damaging Het
Mroh2b G T 15: 4,951,560 (GRCm38) probably benign Het
Myh9 T A 15: 77,775,804 (GRCm38) Q88L probably damaging Het
Myo5a T C 9: 75,176,618 (GRCm38) probably benign Het
Negr1 C T 3: 156,562,190 (GRCm38) probably benign Het
Niban1 A T 1: 151,717,274 (GRCm38) D570V probably damaging Het
Nlrp9b T G 7: 20,042,501 (GRCm38) C337W probably damaging Het
Obscn A T 11: 59,067,162 (GRCm38) C3780S probably damaging Het
Or1e19 A T 11: 73,425,661 (GRCm38) F107L probably damaging Het
Piwil2 T A 14: 70,398,134 (GRCm38) probably benign Het
Ppp6r3 T C 19: 3,466,580 (GRCm38) S213G probably null Het
Pxdn T A 12: 29,984,532 (GRCm38) C39S probably damaging Het
Raf1 T C 6: 115,631,327 (GRCm38) N241S probably benign Het
Rapgef3 A T 15: 97,747,136 (GRCm38) probably null Het
Rhox2h C T X: 37,672,873 (GRCm38) G72D probably benign Het
Sbf1 T C 15: 89,305,985 (GRCm38) probably benign Het
Sema5a T C 15: 32,673,544 (GRCm38) probably benign Het
Setbp1 T C 18: 78,857,473 (GRCm38) D993G probably damaging Het
Slc5a4b A T 10: 76,058,879 (GRCm38) C598S possibly damaging Het
Sorl1 T C 9: 42,041,690 (GRCm38) D685G probably damaging Het
Sulf2 C T 2: 166,089,298 (GRCm38) R263H probably damaging Het
Tbx22 C A X: 107,681,171 (GRCm38) P17T probably damaging Het
Tspoap1 A T 11: 87,762,515 (GRCm38) T136S probably benign Het
Tyw5 T C 1: 57,388,725 (GRCm38) E240G possibly damaging Het
Umodl1 C T 17: 30,968,441 (GRCm38) probably benign Het
Vmn1r60 T C 7: 5,544,781 (GRCm38) T107A probably damaging Het
Zbbx T C 3: 75,139,598 (GRCm38) T121A probably benign Het
Zbtb11 A G 16: 55,982,350 (GRCm38) D241G possibly damaging Het
Zfp445 T C 9: 122,852,230 (GRCm38) H882R probably benign Het
Zscan30 T C 18: 23,971,476 (GRCm38) noncoding transcript Het
Other mutations in Frem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Frem2 APN 3 53,585,595 (GRCm38) missense probably damaging 1.00
IGL00911:Frem2 APN 3 53,572,462 (GRCm38) missense probably damaging 1.00
IGL01322:Frem2 APN 3 53,541,038 (GRCm38) missense probably benign 0.00
IGL01330:Frem2 APN 3 53,655,241 (GRCm38) missense possibly damaging 0.70
IGL01406:Frem2 APN 3 53,525,896 (GRCm38) missense probably damaging 1.00
IGL01556:Frem2 APN 3 53,535,281 (GRCm38) missense probably benign 0.23
IGL01580:Frem2 APN 3 53,655,175 (GRCm38) missense probably damaging 1.00
IGL01606:Frem2 APN 3 53,653,591 (GRCm38) missense possibly damaging 0.69
IGL01611:Frem2 APN 3 53,655,709 (GRCm38) missense probably benign 0.00
IGL01648:Frem2 APN 3 53,535,732 (GRCm38) missense possibly damaging 0.86
IGL01663:Frem2 APN 3 53,517,013 (GRCm38) missense probably damaging 1.00
IGL01665:Frem2 APN 3 53,549,662 (GRCm38) missense probably benign 0.07
IGL01670:Frem2 APN 3 53,656,937 (GRCm38) missense possibly damaging 0.95
IGL01960:Frem2 APN 3 53,522,304 (GRCm38) missense probably benign 0.33
IGL02175:Frem2 APN 3 53,655,599 (GRCm38) missense possibly damaging 0.69
IGL02201:Frem2 APN 3 53,519,640 (GRCm38) missense probably benign 0.35
IGL02202:Frem2 APN 3 53,654,799 (GRCm38) missense probably benign 0.00
IGL02457:Frem2 APN 3 53,521,049 (GRCm38) missense probably damaging 0.99
IGL02638:Frem2 APN 3 53,551,346 (GRCm38) missense possibly damaging 0.94
IGL02801:Frem2 APN 3 53,652,175 (GRCm38) missense possibly damaging 0.85
IGL03023:Frem2 APN 3 53,655,628 (GRCm38) missense probably benign 0.40
IGL03169:Frem2 APN 3 53,522,292 (GRCm38) missense probably benign 0.01
IGL03238:Frem2 APN 3 53,656,261 (GRCm38) missense possibly damaging 0.93
IGL03251:Frem2 APN 3 53,572,308 (GRCm38) missense probably benign 0.01
IGL03273:Frem2 APN 3 53,537,509 (GRCm38) nonsense probably null
IGL03343:Frem2 APN 3 53,652,253 (GRCm38) missense probably damaging 1.00
Biosimilar UTSW 3 53,654,323 (GRCm38) missense probably benign 0.01
Fruit_stripe UTSW 3 53,537,489 (GRCm38) missense probably benign 0.21
PIT4366001:Frem2 UTSW 3 53,653,201 (GRCm38) missense probably damaging 0.98
R0019:Frem2 UTSW 3 53,523,678 (GRCm38) missense probably damaging 0.99
R0092:Frem2 UTSW 3 53,589,796 (GRCm38) missense probably benign 0.03
R0108:Frem2 UTSW 3 53,647,961 (GRCm38) missense probably benign 0.03
R0115:Frem2 UTSW 3 53,656,208 (GRCm38) missense probably damaging 0.99
R0118:Frem2 UTSW 3 53,535,243 (GRCm38) nonsense probably null
R0374:Frem2 UTSW 3 53,653,960 (GRCm38) missense probably damaging 1.00
R0437:Frem2 UTSW 3 53,653,015 (GRCm38) missense possibly damaging 0.96
R0531:Frem2 UTSW 3 53,519,954 (GRCm38) missense probably damaging 1.00
R0555:Frem2 UTSW 3 53,516,860 (GRCm38) missense probably damaging 0.97
R0564:Frem2 UTSW 3 53,656,109 (GRCm38) missense probably damaging 0.97
R0586:Frem2 UTSW 3 53,647,921 (GRCm38) missense probably damaging 0.99
R0726:Frem2 UTSW 3 53,519,626 (GRCm38) missense possibly damaging 0.89
R0925:Frem2 UTSW 3 53,653,973 (GRCm38) missense probably benign
R1233:Frem2 UTSW 3 53,547,778 (GRCm38) missense probably damaging 0.98
R1302:Frem2 UTSW 3 53,655,538 (GRCm38) missense probably benign 0.00
R1333:Frem2 UTSW 3 53,549,731 (GRCm38) missense probably benign 0.26
R1446:Frem2 UTSW 3 53,654,596 (GRCm38) missense probably benign 0.31
R1523:Frem2 UTSW 3 53,655,407 (GRCm38) missense possibly damaging 0.73
R1539:Frem2 UTSW 3 53,654,210 (GRCm38) missense probably benign 0.19
R1543:Frem2 UTSW 3 53,572,455 (GRCm38) missense possibly damaging 0.86
R1597:Frem2 UTSW 3 53,654,519 (GRCm38) missense probably benign 0.19
R1600:Frem2 UTSW 3 53,547,723 (GRCm38) missense probably damaging 1.00
R1678:Frem2 UTSW 3 53,519,938 (GRCm38) missense probably damaging 1.00
R1687:Frem2 UTSW 3 53,653,952 (GRCm38) missense probably benign
R1696:Frem2 UTSW 3 53,656,042 (GRCm38) nonsense probably null
R1758:Frem2 UTSW 3 53,653,357 (GRCm38) missense probably damaging 1.00
R1857:Frem2 UTSW 3 53,654,873 (GRCm38) missense probably benign 0.10
R1869:Frem2 UTSW 3 53,535,196 (GRCm38) missense probably benign 0.04
R1921:Frem2 UTSW 3 53,653,495 (GRCm38) missense possibly damaging 0.76
R1973:Frem2 UTSW 3 53,652,232 (GRCm38) missense probably benign 0.01
R2045:Frem2 UTSW 3 53,535,744 (GRCm38) missense probably damaging 1.00
R2113:Frem2 UTSW 3 53,652,922 (GRCm38) missense probably damaging 1.00
R2152:Frem2 UTSW 3 53,517,029 (GRCm38) nonsense probably null
R2164:Frem2 UTSW 3 53,537,330 (GRCm38) missense probably damaging 1.00
R2181:Frem2 UTSW 3 53,574,587 (GRCm38) missense possibly damaging 0.72
R2201:Frem2 UTSW 3 53,516,573 (GRCm38) missense probably benign
R2221:Frem2 UTSW 3 53,516,857 (GRCm38) missense probably benign 0.00
R2255:Frem2 UTSW 3 53,652,514 (GRCm38) missense probably damaging 0.96
R2280:Frem2 UTSW 3 53,572,423 (GRCm38) missense probably damaging 1.00
R3196:Frem2 UTSW 3 53,537,331 (GRCm38) missense probably damaging 1.00
R3716:Frem2 UTSW 3 53,572,360 (GRCm38) missense probably damaging 1.00
R3807:Frem2 UTSW 3 53,653,449 (GRCm38) missense probably benign 0.22
R3820:Frem2 UTSW 3 53,516,849 (GRCm38) missense probably damaging 1.00
R3821:Frem2 UTSW 3 53,652,415 (GRCm38) missense probably damaging 1.00
R3977:Frem2 UTSW 3 53,652,070 (GRCm38) missense probably benign 0.00
R3979:Frem2 UTSW 3 53,652,070 (GRCm38) missense probably benign 0.00
R4014:Frem2 UTSW 3 53,652,353 (GRCm38) missense probably benign 0.01
R4127:Frem2 UTSW 3 53,525,896 (GRCm38) missense probably damaging 1.00
R4195:Frem2 UTSW 3 53,539,268 (GRCm38) missense possibly damaging 0.90
R4196:Frem2 UTSW 3 53,539,268 (GRCm38) missense possibly damaging 0.90
R4374:Frem2 UTSW 3 53,545,502 (GRCm38) missense possibly damaging 0.61
R4427:Frem2 UTSW 3 53,539,162 (GRCm38) critical splice donor site probably null
R4428:Frem2 UTSW 3 53,654,338 (GRCm38) missense probably benign 0.40
R4559:Frem2 UTSW 3 53,654,321 (GRCm38) missense probably benign 0.01
R4600:Frem2 UTSW 3 53,547,807 (GRCm38) missense possibly damaging 0.96
R4602:Frem2 UTSW 3 53,547,807 (GRCm38) missense possibly damaging 0.96
R4610:Frem2 UTSW 3 53,547,807 (GRCm38) missense possibly damaging 0.96
R4611:Frem2 UTSW 3 53,547,807 (GRCm38) missense possibly damaging 0.96
R4661:Frem2 UTSW 3 53,655,443 (GRCm38) missense probably damaging 1.00
R4678:Frem2 UTSW 3 53,544,371 (GRCm38) missense probably benign 0.00
R4689:Frem2 UTSW 3 53,547,635 (GRCm38) missense probably benign 0.43
R4740:Frem2 UTSW 3 53,535,819 (GRCm38) missense probably benign 0.04
R4748:Frem2 UTSW 3 53,541,093 (GRCm38) missense probably damaging 1.00
R4790:Frem2 UTSW 3 53,516,741 (GRCm38) missense probably benign
R4809:Frem2 UTSW 3 53,653,895 (GRCm38) missense probably benign 0.01
R4930:Frem2 UTSW 3 53,656,315 (GRCm38) missense possibly damaging 0.93
R4971:Frem2 UTSW 3 53,539,183 (GRCm38) missense probably damaging 1.00
R5057:Frem2 UTSW 3 53,535,196 (GRCm38) missense probably benign 0.37
R5202:Frem2 UTSW 3 53,551,346 (GRCm38) missense probably benign 0.41
R5221:Frem2 UTSW 3 53,585,611 (GRCm38) missense probably damaging 1.00
R5231:Frem2 UTSW 3 53,522,295 (GRCm38) missense probably damaging 1.00
R5268:Frem2 UTSW 3 53,653,154 (GRCm38) missense probably damaging 0.96
R5480:Frem2 UTSW 3 53,656,507 (GRCm38) nonsense probably null
R5637:Frem2 UTSW 3 53,652,937 (GRCm38) missense probably damaging 0.97
R5664:Frem2 UTSW 3 53,652,490 (GRCm38) missense probably benign 0.33
R5698:Frem2 UTSW 3 53,652,505 (GRCm38) missense possibly damaging 0.89
R5744:Frem2 UTSW 3 53,655,959 (GRCm38) missense probably damaging 1.00
R5754:Frem2 UTSW 3 53,537,258 (GRCm38) missense probably damaging 1.00
R5808:Frem2 UTSW 3 53,652,563 (GRCm38) missense probably damaging 0.96
R5840:Frem2 UTSW 3 53,647,921 (GRCm38) missense probably damaging 0.99
R5874:Frem2 UTSW 3 53,537,489 (GRCm38) missense probably benign 0.21
R6050:Frem2 UTSW 3 53,653,012 (GRCm38) missense probably damaging 0.99
R6103:Frem2 UTSW 3 53,549,788 (GRCm38) missense probably benign 0.00
R6149:Frem2 UTSW 3 53,551,341 (GRCm38) missense probably damaging 0.98
R6182:Frem2 UTSW 3 53,647,969 (GRCm38) missense probably damaging 1.00
R6191:Frem2 UTSW 3 53,655,280 (GRCm38) missense probably benign 0.10
R6245:Frem2 UTSW 3 53,655,824 (GRCm38) missense probably benign 0.00
R6252:Frem2 UTSW 3 53,572,448 (GRCm38) missense probably damaging 1.00
R6393:Frem2 UTSW 3 53,585,640 (GRCm38) missense possibly damaging 0.91
R6416:Frem2 UTSW 3 53,572,378 (GRCm38) missense probably benign 0.01
R6595:Frem2 UTSW 3 53,549,784 (GRCm38) missense probably damaging 1.00
R6665:Frem2 UTSW 3 53,654,656 (GRCm38) missense probably damaging 1.00
R6708:Frem2 UTSW 3 53,585,501 (GRCm38) missense probably benign 0.00
R6751:Frem2 UTSW 3 53,653,665 (GRCm38) missense probably damaging 1.00
R6787:Frem2 UTSW 3 53,654,323 (GRCm38) missense probably benign 0.01
R6913:Frem2 UTSW 3 53,516,821 (GRCm38) missense probably damaging 1.00
R6916:Frem2 UTSW 3 53,547,688 (GRCm38) missense probably damaging 1.00
R7017:Frem2 UTSW 3 53,519,602 (GRCm38) missense probably benign 0.02
R7083:Frem2 UTSW 3 53,537,493 (GRCm38) missense probably damaging 0.99
R7108:Frem2 UTSW 3 53,653,513 (GRCm38) missense probably damaging 1.00
R7133:Frem2 UTSW 3 53,572,339 (GRCm38) missense possibly damaging 0.82
R7326:Frem2 UTSW 3 53,654,753 (GRCm38) missense probably damaging 1.00
R7341:Frem2 UTSW 3 53,654,495 (GRCm38) missense probably damaging 1.00
R7455:Frem2 UTSW 3 53,572,280 (GRCm38) splice site probably null
R7487:Frem2 UTSW 3 53,654,549 (GRCm38) missense probably benign 0.40
R7495:Frem2 UTSW 3 53,516,837 (GRCm38) missense probably benign 0.13
R7542:Frem2 UTSW 3 53,652,579 (GRCm38) missense probably damaging 1.00
R7636:Frem2 UTSW 3 53,653,247 (GRCm38) missense probably benign 0.00
R7703:Frem2 UTSW 3 53,522,168 (GRCm38) missense probably benign 0.01
R7750:Frem2 UTSW 3 53,523,682 (GRCm38) missense possibly damaging 0.83
R7849:Frem2 UTSW 3 53,572,374 (GRCm38) missense probably damaging 1.00
R7922:Frem2 UTSW 3 53,653,304 (GRCm38) missense probably damaging 0.98
R8008:Frem2 UTSW 3 53,652,910 (GRCm38) missense probably damaging 1.00
R8051:Frem2 UTSW 3 53,535,355 (GRCm38) missense probably benign 0.04
R8052:Frem2 UTSW 3 53,549,643 (GRCm38) missense probably benign 0.02
R8176:Frem2 UTSW 3 53,655,340 (GRCm38) missense possibly damaging 0.50
R8220:Frem2 UTSW 3 53,656,507 (GRCm38) nonsense probably null
R8397:Frem2 UTSW 3 53,653,141 (GRCm38) missense probably benign 0.00
R8410:Frem2 UTSW 3 53,539,177 (GRCm38) missense possibly damaging 0.60
R8697:Frem2 UTSW 3 53,525,828 (GRCm38) missense probably damaging 0.99
R9134:Frem2 UTSW 3 53,654,900 (GRCm38) missense probably damaging 1.00
R9183:Frem2 UTSW 3 53,520,065 (GRCm38) missense probably damaging 1.00
R9260:Frem2 UTSW 3 53,652,783 (GRCm38) missense probably damaging 1.00
R9267:Frem2 UTSW 3 53,657,083 (GRCm38) start codon destroyed probably null 0.00
R9299:Frem2 UTSW 3 53,656,559 (GRCm38) missense probably benign 0.37
R9378:Frem2 UTSW 3 53,651,989 (GRCm38) missense probably damaging 0.99
R9444:Frem2 UTSW 3 53,652,844 (GRCm38) missense probably benign 0.10
R9459:Frem2 UTSW 3 53,653,486 (GRCm38) missense probably benign
R9487:Frem2 UTSW 3 53,653,484 (GRCm38) missense possibly damaging 0.95
R9728:Frem2 UTSW 3 53,656,631 (GRCm38) missense probably benign 0.00
R9759:Frem2 UTSW 3 53,655,497 (GRCm38) missense possibly damaging 0.76
Z1177:Frem2 UTSW 3 53,655,607 (GRCm38) missense probably benign 0.31
Z1177:Frem2 UTSW 3 53,535,166 (GRCm38) missense probably null 1.00
Posted On 2015-04-16