Incidental Mutation 'R6050:Frem2'
ID 483491
Institutional Source Beutler Lab
Gene Symbol Frem2
Ensembl Gene ENSMUSG00000037016
Gene Name Fras1 related extracellular matrix protein 2
Synonyms my, ne, 6030440P17Rik, b2b1562Clo, 8430406N05Rik
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 53513938-53657355 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53653012 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1358 (N1358S)
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: N1358S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: N1358S

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: ENSMUST00000199323
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,977,813 (GRCm38) G175V probably damaging Het
Ahdc1 A G 4: 133,065,891 (GRCm38) D1481G possibly damaging Het
Ak9 A G 10: 41,389,112 (GRCm38) E955G possibly damaging Het
Aox3 T C 1: 58,180,655 (GRCm38) F1138S possibly damaging Het
Bbs2 T A 8: 94,092,532 (GRCm38) N70Y probably damaging Het
BC048679 T C 7: 81,495,591 (GRCm38) I70V possibly damaging Het
Ccdc141 G T 2: 77,011,731 (GRCm38) A1452E probably benign Het
Celsr1 T C 15: 85,930,611 (GRCm38) D1883G probably benign Het
Clhc1 A G 11: 29,561,397 (GRCm38) I280M possibly damaging Het
Cmtr1 G T 17: 29,682,134 (GRCm38) K678N probably damaging Het
Daam2 T C 17: 49,486,502 (GRCm38) D329G possibly damaging Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Duox1 C T 2: 122,319,475 (GRCm38) P116S probably benign Het
Fcf1 G A 12: 84,982,243 (GRCm38) C154Y probably damaging Het
Gm16432 G A 1: 178,103,924 (GRCm38) A470T unknown Het
Gtf2h3 C T 5: 124,584,297 (GRCm38) T121I probably benign Het
Gtf3c3 T C 1: 54,406,070 (GRCm38) I608M probably benign Het
Gzf1 G A 2: 148,684,238 (GRCm38) D210N possibly damaging Het
Ift140 C T 17: 25,091,005 (GRCm38) R1129C probably damaging Het
Lias A G 5: 65,393,972 (GRCm38) I83V possibly damaging Het
Mlh3 T C 12: 85,240,846 (GRCm38) T1342A possibly damaging Het
Mn1 A G 5: 111,419,397 (GRCm38) Y411C probably damaging Het
Mrps21 C T 3: 95,862,888 (GRCm38) R43H probably benign Het
Ncam2 C T 16: 81,443,166 (GRCm38) Q172* probably null Het
Notch3 T C 17: 32,143,527 (GRCm38) T1375A probably benign Het
Oga A C 19: 45,765,480 (GRCm38) S652A possibly damaging Het
Ovol3 T A 7: 30,234,394 (GRCm38) Y101F probably benign Het
Pcbp4 T C 9: 106,462,223 (GRCm38) V45A probably benign Het
Plec T C 15: 76,188,258 (GRCm38) E709G probably damaging Het
Prcc G A 3: 87,869,884 (GRCm38) T261I probably damaging Het
Psg25 A G 7: 18,526,478 (GRCm38) V165A probably benign Het
Rfk C T 19: 17,399,532 (GRCm38) P133S probably benign Het
Scaf8 C T 17: 3,168,108 (GRCm38) T251M unknown Het
Sec14l2 T C 11: 4,111,477 (GRCm38) D67G probably benign Het
Smtnl1 A G 2: 84,811,453 (GRCm38) I441T probably damaging Het
Tbce C T 13: 13,998,434 (GRCm38) V471I possibly damaging Het
Tnip1 G A 11: 54,917,877 (GRCm38) R495C probably damaging Het
Trbv19 A G 6: 41,179,010 (GRCm38) K105R probably benign Het
Ttc5 T A 14: 50,773,287 (GRCm38) N229I probably damaging Het
Ush2a T C 1: 188,957,324 (GRCm38) F5028L probably benign Het
Vmn2r24 T C 6: 123,815,732 (GRCm38) S673P probably damaging Het
Zfp780b A T 7: 27,964,302 (GRCm38) I276N probably damaging 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
IGL02427:Frem2 APN 3 53,535,763 (GRCm38) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TCAAGGACACGCCCTTACTTAC -3'
(R):5'- CTGTTGATGACGAGACACCCAG -3'

Sequencing Primer
(F):5'- GCCCTTACTTACCACATCAGGG -3'
(R):5'- TTGATGACGAGACACCCAGAATGAC -3'
Posted On 2017-07-14