Incidental Mutation 'IGL03343:Frem2'
ID 417312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frem2
Ensembl Gene ENSMUSG00000037016
Gene Name Fras1 related extracellular matrix protein 2
Synonyms 8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03343
Quality Score
Status
Chromosome 3
Chromosomal Location 53421359-53564776 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53559674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1611 (D1611G)
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: D1611G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: D1611G

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Asl A T 5: 130,040,908 (GRCm39) Y178N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Cfp A C X: 20,794,248 (GRCm39) F291C possibly damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Inpp1 A T 1: 52,838,486 (GRCm39) D54E probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Itprid1 T G 6: 55,945,569 (GRCm39) D763E probably damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Micu2 A G 14: 58,154,768 (GRCm39) V419A probably benign Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D 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
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
R3807:Frem2 UTSW 3 53,560,870 (GRCm39) missense probably benign 0.22
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
Posted On 2016-08-02