Incidental Mutation 'R3807:Frem2'
ID 274960
Institutional Source Beutler Lab
Gene Symbol Frem2
Ensembl Gene ENSMUSG00000037016
Gene Name Fras1 related extracellular matrix protein 2
Synonyms 8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 53421359-53564776 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53560870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1212 (D1212E)
Ref Sequence ENSEMBL: ENSMUSP00000088670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091137]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091137
AA Change: D1212E

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: D1212E

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Frem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Frem2 APN 3 53,493,016 (GRCm39) missense probably damaging 1.00
IGL00911:Frem2 APN 3 53,479,883 (GRCm39) missense probably damaging 1.00
IGL01322:Frem2 APN 3 53,448,459 (GRCm39) missense probably benign 0.00
IGL01330:Frem2 APN 3 53,562,662 (GRCm39) missense possibly damaging 0.70
IGL01406:Frem2 APN 3 53,433,317 (GRCm39) missense probably damaging 1.00
IGL01556:Frem2 APN 3 53,442,702 (GRCm39) missense probably benign 0.23
IGL01580:Frem2 APN 3 53,562,596 (GRCm39) missense probably damaging 1.00
IGL01606:Frem2 APN 3 53,561,012 (GRCm39) missense possibly damaging 0.69
IGL01611:Frem2 APN 3 53,563,130 (GRCm39) missense probably benign 0.00
IGL01648:Frem2 APN 3 53,443,153 (GRCm39) missense possibly damaging 0.86
IGL01663:Frem2 APN 3 53,424,434 (GRCm39) missense probably damaging 1.00
IGL01665:Frem2 APN 3 53,457,083 (GRCm39) missense probably benign 0.07
IGL01670:Frem2 APN 3 53,564,358 (GRCm39) missense possibly damaging 0.95
IGL01960:Frem2 APN 3 53,429,725 (GRCm39) missense probably benign 0.33
IGL02175:Frem2 APN 3 53,563,020 (GRCm39) missense possibly damaging 0.69
IGL02201:Frem2 APN 3 53,427,061 (GRCm39) missense probably benign 0.35
IGL02202:Frem2 APN 3 53,562,220 (GRCm39) missense probably benign 0.00
IGL02427:Frem2 APN 3 53,443,184 (GRCm39) missense probably damaging 0.97
IGL02457:Frem2 APN 3 53,428,470 (GRCm39) missense probably damaging 0.99
IGL02638:Frem2 APN 3 53,458,767 (GRCm39) missense possibly damaging 0.94
IGL02801:Frem2 APN 3 53,559,596 (GRCm39) missense possibly damaging 0.85
IGL03023:Frem2 APN 3 53,563,049 (GRCm39) missense probably benign 0.40
IGL03169:Frem2 APN 3 53,429,713 (GRCm39) missense probably benign 0.01
IGL03238:Frem2 APN 3 53,563,682 (GRCm39) missense possibly damaging 0.93
IGL03251:Frem2 APN 3 53,479,729 (GRCm39) missense probably benign 0.01
IGL03273:Frem2 APN 3 53,444,930 (GRCm39) nonsense probably null
IGL03343:Frem2 APN 3 53,559,674 (GRCm39) missense probably damaging 1.00
Biosimilar UTSW 3 53,561,744 (GRCm39) missense probably benign 0.01
Fruit_stripe UTSW 3 53,444,910 (GRCm39) missense probably benign 0.21
PIT4366001:Frem2 UTSW 3 53,560,622 (GRCm39) missense probably damaging 0.98
R0019:Frem2 UTSW 3 53,431,099 (GRCm39) missense probably damaging 0.99
R0092:Frem2 UTSW 3 53,497,217 (GRCm39) missense probably benign 0.03
R0108:Frem2 UTSW 3 53,555,382 (GRCm39) missense probably benign 0.03
R0115:Frem2 UTSW 3 53,563,629 (GRCm39) missense probably damaging 0.99
R0118:Frem2 UTSW 3 53,442,664 (GRCm39) nonsense probably null
R0374:Frem2 UTSW 3 53,561,381 (GRCm39) missense probably damaging 1.00
R0437:Frem2 UTSW 3 53,560,436 (GRCm39) missense possibly damaging 0.96
R0531:Frem2 UTSW 3 53,427,375 (GRCm39) missense probably damaging 1.00
R0555:Frem2 UTSW 3 53,424,281 (GRCm39) missense probably damaging 0.97
R0564:Frem2 UTSW 3 53,563,530 (GRCm39) missense probably damaging 0.97
R0586:Frem2 UTSW 3 53,555,342 (GRCm39) missense probably damaging 0.99
R0726:Frem2 UTSW 3 53,427,047 (GRCm39) missense possibly damaging 0.89
R0925:Frem2 UTSW 3 53,561,394 (GRCm39) missense probably benign
R1233:Frem2 UTSW 3 53,455,199 (GRCm39) missense probably damaging 0.98
R1302:Frem2 UTSW 3 53,562,959 (GRCm39) missense probably benign 0.00
R1333:Frem2 UTSW 3 53,457,152 (GRCm39) missense probably benign 0.26
R1446:Frem2 UTSW 3 53,562,017 (GRCm39) missense probably benign 0.31
R1523:Frem2 UTSW 3 53,562,828 (GRCm39) missense possibly damaging 0.73
R1539:Frem2 UTSW 3 53,561,631 (GRCm39) missense probably benign 0.19
R1543:Frem2 UTSW 3 53,479,876 (GRCm39) missense possibly damaging 0.86
R1597:Frem2 UTSW 3 53,561,940 (GRCm39) missense probably benign 0.19
R1600:Frem2 UTSW 3 53,455,144 (GRCm39) missense probably damaging 1.00
R1678:Frem2 UTSW 3 53,427,359 (GRCm39) missense probably damaging 1.00
R1687:Frem2 UTSW 3 53,561,373 (GRCm39) missense probably benign
R1696:Frem2 UTSW 3 53,563,463 (GRCm39) nonsense probably null
R1758:Frem2 UTSW 3 53,560,778 (GRCm39) missense probably damaging 1.00
R1857:Frem2 UTSW 3 53,562,294 (GRCm39) missense probably benign 0.10
R1869:Frem2 UTSW 3 53,442,617 (GRCm39) missense probably benign 0.04
R1921:Frem2 UTSW 3 53,560,916 (GRCm39) missense possibly damaging 0.76
R1973:Frem2 UTSW 3 53,559,653 (GRCm39) missense probably benign 0.01
R2045:Frem2 UTSW 3 53,443,165 (GRCm39) missense probably damaging 1.00
R2113:Frem2 UTSW 3 53,560,343 (GRCm39) missense probably damaging 1.00
R2152:Frem2 UTSW 3 53,424,450 (GRCm39) nonsense probably null
R2164:Frem2 UTSW 3 53,444,751 (GRCm39) missense probably damaging 1.00
R2181:Frem2 UTSW 3 53,482,008 (GRCm39) missense possibly damaging 0.72
R2201:Frem2 UTSW 3 53,423,994 (GRCm39) missense probably benign
R2221:Frem2 UTSW 3 53,424,278 (GRCm39) missense probably benign 0.00
R2255:Frem2 UTSW 3 53,559,935 (GRCm39) missense probably damaging 0.96
R2280:Frem2 UTSW 3 53,479,844 (GRCm39) missense probably damaging 1.00
R3196:Frem2 UTSW 3 53,444,752 (GRCm39) missense probably damaging 1.00
R3716:Frem2 UTSW 3 53,479,781 (GRCm39) missense probably damaging 1.00
R3820:Frem2 UTSW 3 53,424,270 (GRCm39) missense probably damaging 1.00
R3821:Frem2 UTSW 3 53,559,836 (GRCm39) missense probably damaging 1.00
R3977:Frem2 UTSW 3 53,559,491 (GRCm39) missense probably benign 0.00
R3979:Frem2 UTSW 3 53,559,491 (GRCm39) missense probably benign 0.00
R4014:Frem2 UTSW 3 53,559,774 (GRCm39) missense probably benign 0.01
R4127:Frem2 UTSW 3 53,433,317 (GRCm39) missense probably damaging 1.00
R4195:Frem2 UTSW 3 53,446,689 (GRCm39) missense possibly damaging 0.90
R4196:Frem2 UTSW 3 53,446,689 (GRCm39) missense possibly damaging 0.90
R4374:Frem2 UTSW 3 53,452,923 (GRCm39) missense possibly damaging 0.61
R4427:Frem2 UTSW 3 53,446,583 (GRCm39) critical splice donor site probably null
R4428:Frem2 UTSW 3 53,561,759 (GRCm39) missense probably benign 0.40
R4559:Frem2 UTSW 3 53,561,742 (GRCm39) missense probably benign 0.01
R4600:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4602:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4610:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4611:Frem2 UTSW 3 53,455,228 (GRCm39) missense possibly damaging 0.96
R4661:Frem2 UTSW 3 53,562,864 (GRCm39) missense probably damaging 1.00
R4678:Frem2 UTSW 3 53,451,792 (GRCm39) missense probably benign 0.00
R4689:Frem2 UTSW 3 53,455,056 (GRCm39) missense probably benign 0.43
R4740:Frem2 UTSW 3 53,443,240 (GRCm39) missense probably benign 0.04
R4748:Frem2 UTSW 3 53,448,514 (GRCm39) missense probably damaging 1.00
R4790:Frem2 UTSW 3 53,424,162 (GRCm39) missense probably benign
R4809:Frem2 UTSW 3 53,561,316 (GRCm39) missense probably benign 0.01
R4930:Frem2 UTSW 3 53,563,736 (GRCm39) missense possibly damaging 0.93
R4971:Frem2 UTSW 3 53,446,604 (GRCm39) missense probably damaging 1.00
R5057:Frem2 UTSW 3 53,442,617 (GRCm39) missense probably benign 0.37
R5202:Frem2 UTSW 3 53,458,767 (GRCm39) missense probably benign 0.41
R5221:Frem2 UTSW 3 53,493,032 (GRCm39) missense probably damaging 1.00
R5231:Frem2 UTSW 3 53,429,716 (GRCm39) missense probably damaging 1.00
R5268:Frem2 UTSW 3 53,560,575 (GRCm39) missense probably damaging 0.96
R5480:Frem2 UTSW 3 53,563,928 (GRCm39) nonsense probably null
R5637:Frem2 UTSW 3 53,560,358 (GRCm39) missense probably damaging 0.97
R5664:Frem2 UTSW 3 53,559,911 (GRCm39) missense probably benign 0.33
R5698:Frem2 UTSW 3 53,559,926 (GRCm39) missense possibly damaging 0.89
R5744:Frem2 UTSW 3 53,563,380 (GRCm39) missense probably damaging 1.00
R5754:Frem2 UTSW 3 53,444,679 (GRCm39) missense probably damaging 1.00
R5808:Frem2 UTSW 3 53,559,984 (GRCm39) missense probably damaging 0.96
R5840:Frem2 UTSW 3 53,555,342 (GRCm39) missense probably damaging 0.99
R5874:Frem2 UTSW 3 53,444,910 (GRCm39) missense probably benign 0.21
R6050:Frem2 UTSW 3 53,560,433 (GRCm39) missense probably damaging 0.99
R6103:Frem2 UTSW 3 53,457,209 (GRCm39) missense probably benign 0.00
R6149:Frem2 UTSW 3 53,458,762 (GRCm39) missense probably damaging 0.98
R6182:Frem2 UTSW 3 53,555,390 (GRCm39) missense probably damaging 1.00
R6191:Frem2 UTSW 3 53,562,701 (GRCm39) missense probably benign 0.10
R6245:Frem2 UTSW 3 53,563,245 (GRCm39) missense probably benign 0.00
R6252:Frem2 UTSW 3 53,479,869 (GRCm39) missense probably damaging 1.00
R6393:Frem2 UTSW 3 53,493,061 (GRCm39) missense possibly damaging 0.91
R6416:Frem2 UTSW 3 53,479,799 (GRCm39) missense probably benign 0.01
R6595:Frem2 UTSW 3 53,457,205 (GRCm39) missense probably damaging 1.00
R6665:Frem2 UTSW 3 53,562,077 (GRCm39) missense probably damaging 1.00
R6708:Frem2 UTSW 3 53,492,922 (GRCm39) missense probably benign 0.00
R6751:Frem2 UTSW 3 53,561,086 (GRCm39) missense probably damaging 1.00
R6787:Frem2 UTSW 3 53,561,744 (GRCm39) missense probably benign 0.01
R6913:Frem2 UTSW 3 53,424,242 (GRCm39) missense probably damaging 1.00
R6916:Frem2 UTSW 3 53,455,109 (GRCm39) missense probably damaging 1.00
R7017:Frem2 UTSW 3 53,427,023 (GRCm39) missense probably benign 0.02
R7083:Frem2 UTSW 3 53,444,914 (GRCm39) missense probably damaging 0.99
R7108:Frem2 UTSW 3 53,560,934 (GRCm39) missense probably damaging 1.00
R7133:Frem2 UTSW 3 53,479,760 (GRCm39) missense possibly damaging 0.82
R7326:Frem2 UTSW 3 53,562,174 (GRCm39) missense probably damaging 1.00
R7341:Frem2 UTSW 3 53,561,916 (GRCm39) missense probably damaging 1.00
R7455:Frem2 UTSW 3 53,479,701 (GRCm39) splice site probably null
R7487:Frem2 UTSW 3 53,561,970 (GRCm39) missense probably benign 0.40
R7495:Frem2 UTSW 3 53,424,258 (GRCm39) missense probably benign 0.13
R7542:Frem2 UTSW 3 53,560,000 (GRCm39) missense probably damaging 1.00
R7636:Frem2 UTSW 3 53,560,668 (GRCm39) missense probably benign 0.00
R7703:Frem2 UTSW 3 53,429,589 (GRCm39) missense probably benign 0.01
R7750:Frem2 UTSW 3 53,431,103 (GRCm39) missense possibly damaging 0.83
R7849:Frem2 UTSW 3 53,479,795 (GRCm39) missense probably damaging 1.00
R7922:Frem2 UTSW 3 53,560,725 (GRCm39) missense probably damaging 0.98
R8008:Frem2 UTSW 3 53,560,331 (GRCm39) missense probably damaging 1.00
R8051:Frem2 UTSW 3 53,442,776 (GRCm39) missense probably benign 0.04
R8052:Frem2 UTSW 3 53,457,064 (GRCm39) missense probably benign 0.02
R8176:Frem2 UTSW 3 53,562,761 (GRCm39) missense possibly damaging 0.50
R8220:Frem2 UTSW 3 53,563,928 (GRCm39) nonsense probably null
R8397:Frem2 UTSW 3 53,560,562 (GRCm39) missense probably benign 0.00
R8410:Frem2 UTSW 3 53,446,598 (GRCm39) missense possibly damaging 0.60
R8697:Frem2 UTSW 3 53,433,249 (GRCm39) missense probably damaging 0.99
R9134:Frem2 UTSW 3 53,562,321 (GRCm39) missense probably damaging 1.00
R9183:Frem2 UTSW 3 53,427,486 (GRCm39) missense probably damaging 1.00
R9260:Frem2 UTSW 3 53,560,204 (GRCm39) missense probably damaging 1.00
R9267:Frem2 UTSW 3 53,564,504 (GRCm39) start codon destroyed probably null 0.00
R9299:Frem2 UTSW 3 53,563,980 (GRCm39) missense probably benign 0.37
R9378:Frem2 UTSW 3 53,559,410 (GRCm39) missense probably damaging 0.99
R9444:Frem2 UTSW 3 53,560,265 (GRCm39) missense probably benign 0.10
R9459:Frem2 UTSW 3 53,560,907 (GRCm39) missense probably benign
R9487:Frem2 UTSW 3 53,560,905 (GRCm39) missense possibly damaging 0.95
R9728:Frem2 UTSW 3 53,564,052 (GRCm39) missense probably benign 0.00
R9759:Frem2 UTSW 3 53,562,918 (GRCm39) missense possibly damaging 0.76
Z1177:Frem2 UTSW 3 53,563,028 (GRCm39) missense probably benign 0.31
Z1177:Frem2 UTSW 3 53,442,587 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TGAGGACCATCTTCTCCACG -3'
(R):5'- CGAAGACCGCTTTATATTCCGTTG -3'

Sequencing Primer
(F):5'- ACGGAGTGCTTGCCATCTGTC -3'
(R):5'- GTTCTGACGGTATTAACTTCTCTGAG -3'
Posted On 2015-04-02